Variant report

Variant	esv2753619
Chromosome Location	chr1:220210273-220302117
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2658)
CpG islands
(count:2442)
Chromatin interactive
region (count:105)
LncRNA
region (count:8)
Mature miRNA
region (count: 3)
miRNA target
sites (count:0)

(count:2658 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:220297447-220297527	K562	blood:	n/a	n/a
2	ARID3A	chr1:220267838-220268015	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:220286461-220286866	K562	blood:	n/a	chr1:220286627-220286643
4	ARID3A	chr1:220262701-220263860	K562	blood:	n/a	n/a
5	ARID3A	chr1:220292276-220292860	K562	blood:	n/a	n/a
6	ARID3A	chr1:220286514-220286810	HepG2	liver:	n/a	chr1:220286627-220286643
7	ARID3A	chr1:220262890-220263556	HepG2	liver:	n/a	n/a
8	ARID3A	chr1:220232558-220233035	HepG2	liver:	n/a	n/a
9	ARID3A	chr1:220266650-220267504	HepG2	liver:	n/a	n/a
10	ARID3A	chr1:220259316-220259831	K562	blood:	n/a	n/a
11	ARID3A	chr1:220219623-220220158	HepG2	liver:	n/a	n/a
12	ARID3A	chr1:220297333-220297471	HepG2	liver:	n/a	n/a
13	ARID3A	chr1:220291692-220291877	K562	blood:	n/a	n/a
14	ATF1	chr1:220291553-220291620	K562	blood:	n/a	n/a
15	ATF1	chr1:220292347-220292837	K562	blood:	n/a	n/a
16	ATF1	chr1:220262978-220263681	K562	blood:	n/a	n/a
17	ATF1	chr1:220259531-220259847	K562	blood:	n/a	n/a
18	ATF1	chr1:220219563-220220219	K562	blood:	n/a	n/a
19	ATF2	chr1:220259483-220259825	GM12878	blood:	n/a	n/a
20	ATF2	chr1:220219600-220220227	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr1:220262683-220263768	GM12878	blood:	n/a	n/a
22	ATF2	chr1:220219565-220220272	GM12878	blood:	n/a	n/a
23	ATF2	chr1:220219656-220220278	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF2	chr1:220219748-220220341	GM12878	blood:	n/a	n/a
25	ATF2	chr1:220262957-220263730	GM12878	blood:	n/a	n/a
26	ATF3	chr1:220292314-220292822	K562	blood:	n/a	chr1:220292525-220292538
27	ATF3	chr1:220219554-220220202	K562	blood:	n/a	n/a
28	ATF3	chr1:220219432-220220194	K562	blood:	n/a	n/a
29	ATF3	chr1:220219641-220220318	GM12878	blood:	n/a	n/a
30	ATF3	chr1:220219774-220220156	HepG2	liver:	n/a	n/a
31	ATF3	chr1:220219549-220220234	H1-hESC	embryonic stem cell:	n/a	n/a
32	ATF3	chr1:220219646-220220179	H1-hESC	embryonic stem cell:	n/a	n/a
33	ATF3	chr1:220219496-220220172	K562	blood:	n/a	n/a
34	ATF3	chr1:220219641-220220368	HepG2	liver:	n/a	n/a
35	ATF3	chr1:220219499-220220214	A549	lung:	n/a	n/a
36	ATF3	chr1:220219813-220220193	GM12878	blood:	n/a	n/a
37	ATF3	chr1:220262929-220263522	A549	lung:	n/a	n/a
38	BACH1	chr1:220259186-220259273	K562	blood:	n/a	n/a
39	BACH1	chr1:220219222-220220191	H1-hESC	embryonic stem cell:	n/a	n/a
40	BACH1	chr1:220263027-220263516	K562	blood:	n/a	n/a
41	BCL11A	chr1:220219493-220220070	GM12878	blood:	n/a	n/a
42	BCL3	chr1:220219340-220220300	A549	lung:	n/a	n/a
43	BCL3	chr1:220262852-220263576	A549	lung:	n/a	n/a
44	BCL3	chr1:220219673-220220378	A549	lung:	n/a	n/a
45	BCL3	chr1:220262863-220263535	A549	lung:	n/a	n/a
46	BCLAF1	chr1:220262737-220263786	GM12878	blood:	n/a	n/a
47	BCLAF1	chr1:220219483-220220273	GM12878	blood:	n/a	n/a
48	BCLAF1	chr1:220267258-220268070	GM12878	blood:	n/a	chr1:220267523-220267532 chr1:220267864-220267877 chr1:220267871-220267884 chr1:220267340-220267353
49	BCLAF1	chr1:220262937-220263619	GM12878	blood:	n/a	n/a
50	BCLAF1	chr1:220267273-220267900	GM12878	blood:	n/a	chr1:220267523-220267532 chr1:220267864-220267877 chr1:220267871-220267884 chr1:220267340-220267353

(count:2442 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:220263111-220263161	BE2_C	brain:	n/a
2	chr1:220292590-220292640	NH-A	brain:	n/a
3	chr1:220263111-220263161	BE2_C	brain:	n/a
4	chr1:220292590-220292640	NH-A	brain:	n/a
5	chr1:220220103-220220153	RPTEC	kidney:	n/a
6	chr1:220222487-220222537	MCF10A-Er-Src	breast:	n/a
7	chr1:220220060-220220110	SKMC	muscle:	n/a
8	chr1:220216811-220216861	HNPCEpiC	eye:	n/a
9	chr1:220219742-220219792	NHBE	bronchial:	n/a
10	chr1:220220706-220220756	AG09309	skin:	n/a
11	chr1:220263239-220263289	H1-hESC	embryonic stem cell:	embryo
12	chr1:220222487-220222537	GM06990	blood:	n/a
13	chr1:220219430-220219480	HCM	heart:	n/a
14	chr1:220219722-220219772	AG04450	lung:	fetal
15	chr1:220219823-220219873	NH-A	brain:	n/a
16	chr1:220292590-220292640	HAEpiC	amniotic membrane:	n/a
17	chr1:220292590-220292640	HepG2	liver:	n/a
18	chr1:220267397-220267447	SK-N-MC	brain:	n/a
19	chr1:220263017-220263067	PFSK-1	brain:	n/a
20	chr1:220219430-220219480	LNCaP	prostate:	n/a
21	chr1:220268091-220268141	HCPEpiC	choroid plexus:	n/a
22	chr1:220267382-220267432	LNCaP	prostate:	n/a
23	chr1:220216811-220216861	ovcar-3	ovarian:	n/a
24	chr1:220263509-220263559	MCF-7	breast:	n/a
25	chr1:220263520-220263570	HIPEpiC	eye:	n/a
26	chr1:220219742-220219792	SK-N-SH_RA	brain:	n/a
27	chr1:220263239-220263289	T-47D	breast:	n/a
28	chr1:220221233-220221283	HNPCEpiC	eye:	n/a
29	chr1:220219906-220219956	IMR90	lung:	fetal
30	chr1:220267382-220267432	NT2-D1	testis:	n/a
31	chr1:220292508-220292558	HNPCEpiC	eye:	n/a
32	chr1:220267790-220267840	HRCEpiC	kidney:	n/a
33	chr1:220271059-220271109	H1-hESC	embryonic stem cell:	embryo
34	chr1:220263525-220263575	AG09309	skin:	n/a
35	chr1:220219430-220219480	BJ	skin:	n/a
36	chr1:220267521-220267571	ProgFib	skin:	n/a
37	chr1:220271059-220271109	RPTEC	kidney:	n/a
38	chr1:220263698-220263748	HCF	heart:	n/a
39	chr1:220263520-220263570	HRCEpiC	kidney:	n/a
40	chr1:220219722-220219772	HNPCEpiC	eye:	n/a
41	chr1:220232018-220232068	K562	blood:	n/a
42	chr1:220220036-220220086	HUVEC	blood vessel:	n/a
43	chr1:220219742-220219792	MCF-7	breast:	n/a
44	chr1:220263520-220263570	HEEpiC	esophagus:	n/a
45	chr1:220219163-220219213	HCF	heart:	n/a
46	chr1:220267790-220267840	HNPCEpiC	eye:	n/a
47	chr1:220266799-220266849	AG04450	lung:	fetal
48	chr1:220266799-220266849	HCF	heart:	n/a
49	chr1:220232018-220232068	GM19239	blood:	n/a
50	chr1:220266799-220266849	HRPEpiC	eye:	n/a

(count:105 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:220292461..220294314-chr1:220300641..220303068,2	MCF-7	breast:
2	chr1:220241340..220244207-chr1:220246166..220247870,2	K562	blood:
3	chr1:220253135..220256088-chr1:220267328..220268920,2	MCF-7	breast:
4	chr1:220219302..220219842-chr11:64878697..64879528,2	NB4	blood:
5	chr1:220296550..220299024-chr1:220300584..220302127,2	MCF-7	breast:
6	chr1:220164112..220164967-chr1:220297177..220297836,2	MCF-7	breast:
7	chr1:220278385..220281361-chr1:220362582..220364756,2	K562	blood:
8	chr1:220267309..220268289-chrX:55744121..55744662,2	Hela-S3	cervix:
9	chr1:220009776..220012687-chr1:220217353..220218943,2	K562	blood:
10	chr1:220219093..220220220-chr15:66084111..66084775,3	Hela-S3	cervix:
11	chr1:220274759..220277050-chr1:220282694..220284313,2	K562	blood:
12	chr1:220285273..220288143-chr1:220290128..220292284,2	K562	blood:
13	chr1:219988735..219991351-chr1:220240938..220242898,2	K562	blood:
14	chr1:220292461..220294314-chr1:220300641..220303068,2	MCF-7	breast:
15	chr1:220286097..220288376-chr1:220293126..220296028,3	K562	blood:
16	chr1:220279178..220280754-chr1:220286872..220289173,2	K562	blood:
17	chr1:220261171..220264758-chr1:220266195..220270505,9	MCF-7	breast:
18	chr1:220219640..220220523-chr5:139493361..139494034,2	Hela-S3	cervix:
19	chr1:220279596..220282587-chr1:220284758..220287286,2	MCF-7	breast:
20	chr1:220266934..220268710-chr1:220286713..220288993,3	K562	blood:
21	chr1:220267529..220269249-chr1:220275235..220276981,2	K562	blood:
22	chr1:220218535..220220494-chr1:220265581..220269628,4	MCF-7	breast:
23	chr1:220273792..220275457-chr1:220277265..220279175,2	K562	blood:
24	chr1:220217537..220219750-chr1:220295098..220297083,2	K562	blood:
25	chr1:220209718..220212778-chr1:220216575..220219154,4	K562	blood:
26	chr1:220267849..220270969-chr1:220271218..220274109,4	MCF-7	breast:
27	chr1:220258983..220260930-chr1:220282366..220284505,2	K562	blood:
28	chr1:220219521..220220100-chr1:220262803..220263613,2	K562	blood:
29	chr1:220261085..220263110-chr1:220275764..220277863,2	MCF-7	breast:
30	chr1:220260533..220264899-chr1:220265232..220269626,12	MCF-7	breast:
31	chr1:220218169..220221765-chr1:220261064..220269153,11	MCF-7	breast:
32	chr1:220250499..220254001-chr1:220255278..220257878,3	K562	blood:
33	chr1:220218535..220220494-chr1:220265581..220269628,4	MCF-7	breast:
34	chr1:220209718..220212778-chr1:220216575..220219154,4	K562	blood:
35	chr1:220218765..220221462-chr1:220223593..220225505,2	MCF-7	breast:
36	chr1:220275550..220277666-chr1:220281833..220284313,2	K562	blood:
37	chr1:220219668..220220272-chr1:247373675..247374229,2	Hela-S3	cervix:
38	chr1:220274759..220277050-chr1:220282694..220284313,2	K562	blood:
39	chr1:220219151..220219774-chr19:47852496..47853071,2	NB4	blood:
40	chr1:220258983..220260930-chr1:220282366..220284505,2	K562	blood:
41	chr1:11714821..11715495-chr1:220219634..220220255,2	HCT-116	colon:
42	chr1:220266360..220269449-chr1:220274847..220278218,5	MCF-7	breast:
43	chr1:220275550..220277666-chr1:220281833..220284313,2	K562	blood:
44	chr1:220215698..220219502-chr1:220266015..220268343,4	K562	blood:
45	chr1:220296550..220299024-chr1:220300584..220302127,2	MCF-7	breast:
46	chr1:220263230..220264773-chr1:220279211..220280945,2	K562	blood:
47	chr1:220267849..220270969-chr1:220271218..220274109,4	MCF-7	breast:
48	chr1:220218207..220221672-chr1:220261461..220265020,3	K562	blood:
49	chr1:220236160..220238551-chr1:220252332..220254009,2	K562	blood:
50	chr1:220235246..220237284-chr17:58155320..58156912,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAB3GAP2-1	chr1:220281670-220281887	NONHSAT009579
2	lnc-EPRS-2	chr1:220231103-220231259	NONHSAT009576
3	lnc-EPRS-2	chr1:220263028-220263191	NONHSAT009576
4	lnc-IARS2-2	chr1:220222965-220223108	NONHSAT009575
5	lnc-EPRS-1	chr1:220218325-220218488	NONHSAT009572
6	lnc-RAB3GAP2-1	chr1:220298379-220298643	NONHSAT009579
7	lnc-IARS2-2	chr1:220222965-220223108	NONHSAT009574
8	lnc-IARS2-2	chr1:220224019-220224929	NONHSAT009575

miRNA name	Chromosome Location	mirBase accession
hsa-miR-215-5p	chr1:220291258-220291278	MIMAT0000272
hsa-miR-215-3p	chr1:220291219-220291241	MIMAT0026476
hsa-miR-194-5p	chr1:220291548-220291569	MIMAT0000460

No data

Variant related genes	Relation type
MIR194-1	TF binding region
MIR215	TF binding region
EPRS	TF binding region
IARS2	TF binding region
BPNT1	TF binding region
MIR194-1	CpG island
MIR215	CpG island
EPRS	CpG island
IARS2	CpG island
BPNT1	CpG island
ENSG00000068097	chromatin interactions
ENSG00000168488	chromatin interactions
ENSG00000162813	chromatin interactions
ENSG00000136628	chromatin interactions
ENSG00000227671	chromatin interactions
ENSG00000254501	chromatin interactions
ENSG00000132879	chromatin interactions
ENSG00000067704	chromatin interactions
ENSG00000207590	chromatin interactions
ENSG00000174485	chromatin interactions
ENSG00000149809	chromatin interactions
ENSG00000083750	chromatin interactions
ENSG00000196660	chromatin interactions
ENSG00000185129	chromatin interactions
ENSG00000134815	chromatin interactions
ENSG00000267416	chromatin interactions
ENSG00000207624	chromatin interactions
APOLD1	Mature miRNA region
AHSA2	Mature miRNA region
TRIB3	Mature miRNA region
TMEM200A	Mature miRNA region
SAP30	Mature miRNA region
TBL1X	Mature miRNA region
PARM1	Mature miRNA region
SRCAP	Mature miRNA region
CFL2	Mature miRNA region
BMI1	Mature miRNA region
CDK14	Mature miRNA region
PCGF5	Mature miRNA region
FADS1	Mature miRNA region
TFCP2L1	Mature miRNA region
GATM	Mature miRNA region
CCDC174	Mature miRNA region
DLGAP5	Mature miRNA region
UNG	Mature miRNA region
TTPA	Mature miRNA region
FAM83D	Mature miRNA region
REEP1	Mature miRNA region
FBXO5	Mature miRNA region
FOXA1	Mature miRNA region
GAB2	Mature miRNA region
CDH2	Mature miRNA region
KHDRBS3	Mature miRNA region
FZD4	Mature miRNA region
NKRF	Mature miRNA region
CDKN3	Mature miRNA region
CENPF	Mature miRNA region
DNMT3A	Mature miRNA region
PIP4K2B	Mature miRNA region
ZNF449	Mature miRNA region
ZNF226	Mature miRNA region
FZD1	Mature miRNA region
GCH1	Mature miRNA region
HJURP	Mature miRNA region
HBEGF	Mature miRNA region
ANG	Mature miRNA region
SLC16A9	Mature miRNA region
TICRR	Mature miRNA region
PASK	Mature miRNA region
PSMD6	Mature miRNA region
CKAP4	Mature miRNA region
GALNT12	Mature miRNA region
ANLN	Mature miRNA region
SH2B3	Mature miRNA region
COCH	Mature miRNA region
TCEB3	Mature miRNA region
PHF6	Mature miRNA region
SGPP1	Mature miRNA region
CLVS1	Mature miRNA region
SPTBN1	Mature miRNA region
NOXO1	Mature miRNA region
CNTNAP3B	Mature miRNA region
MAD2L1	Mature miRNA region
FAM178A	Mature miRNA region
LIMS1	Mature miRNA region
ANKRD32	Mature miRNA region
EPDR1	Mature miRNA region
ATAD2	Mature miRNA region
RFC4	Mature miRNA region
SEMA4D	Mature miRNA region
WDR47	Mature miRNA region
CEP55	Mature miRNA region
NMU	Mature miRNA region
RAB27A	Mature miRNA region
NUCB2	Mature miRNA region
HOXA10	Mature miRNA region
SMARCB1	Mature miRNA region
TMTC4	Mature miRNA region
OTUB2	Mature miRNA region
ATG10	Mature miRNA region
BUB1B	Mature miRNA region
BRIP1	Mature miRNA region
C2orf44	Mature miRNA region
RPAP2	Mature miRNA region
SNX10	Mature miRNA region
TMTC3	Mature miRNA region
ZNF85	Mature miRNA region
PRICKLE1	Mature miRNA region
ZNF248	Mature miRNA region
ERCC3	Mature miRNA region
MOAP1	Mature miRNA region
KCTD15	Mature miRNA region
BRCA2	Mature miRNA region
HIBADH	Mature miRNA region
FGF2	Mature miRNA region
TDG	Mature miRNA region
B4GALT6	Mature miRNA region
ZNF443	Mature miRNA region
CD83	Mature miRNA region
ALG10B	Mature miRNA region
PRIMPOL	Mature miRNA region
CDKN1A	Mature miRNA region
AGO2	Mature miRNA region
PRADC1	Mature miRNA region
ASPH	Mature miRNA region
UGT8	Mature miRNA region
KLF10	Mature miRNA region
HOXB9	Mature miRNA region
MFI2	Mature miRNA region
SLC46A3	Mature miRNA region
TOR1AIP1	Mature miRNA region
CCDC121	Mature miRNA region
LMNB1	Mature miRNA region
PPP1CB	Mature miRNA region
CIT	Mature miRNA region
ID1	Mature miRNA region
LRRCC1	Mature miRNA region
CHM	Mature miRNA region
BBS7	Mature miRNA region
ST3GAL6	Mature miRNA region
CASC5	Mature miRNA region
PPP1R12A	Mature miRNA region
FBXW2	Mature miRNA region
NCEH1	Mature miRNA region
TIFA	Mature miRNA region
ITGA9	Mature miRNA region
CDC7	Mature miRNA region
DCP1A	Mature miRNA region
ALDH9A1	Mature miRNA region
FBN1	Mature miRNA region
SLC48A1	Mature miRNA region
PIF1	Mature miRNA region
TCFL5	Mature miRNA region
FNDC3B	Mature miRNA region
OSBPL10	Mature miRNA region
SLC39A1	Mature miRNA region
EDRF1	Mature miRNA region
APC	Mature miRNA region
DNAJB9	Mature miRNA region
PRIM1	Mature miRNA region
AGL	Mature miRNA region
ELOVL5	Mature miRNA region
UBE2D2	Mature miRNA region
RFWD3	Mature miRNA region
IGDCC4	Mature miRNA region
PPP1R26	Mature miRNA region
SOX5	Mature miRNA region
UPP1	Mature miRNA region
FAM20B	Mature miRNA region
GABPB1	Mature miRNA region
TLN2	Mature miRNA region
GSG2	Mature miRNA region
PERP	Mature miRNA region
BORA	Mature miRNA region
PHF10	Mature miRNA region
SLC19A2	Mature miRNA region
NEIL3	Mature miRNA region
FZD7	Mature miRNA region
ERMP1	Mature miRNA region
GPSM2	Mature miRNA region
SNRPD1	Mature miRNA region
ACADSB	Mature miRNA region
ERCC6L	Mature miRNA region
LSM14B	Mature miRNA region
SIRT1	Mature miRNA region
MYB	Mature miRNA region
IQCC	Mature miRNA region
PHTF1	Mature miRNA region
MTMR12	Mature miRNA region
KIF14	Mature miRNA region
KIFC1	Mature miRNA region
TDP1	Mature miRNA region
PRNP	Mature miRNA region
MANF	Mature miRNA region
NOB1	Mature miRNA region
RAB1A	Mature miRNA region
ARL2BP	Mature miRNA region
PAPD7	Mature miRNA region
CCL3L3	Mature miRNA region
RNASEL	Mature miRNA region
DIMT1	Mature miRNA region
TYMS	Mature miRNA region
G2E3	Mature miRNA region
DNAJC19	Mature miRNA region
TMED10	Mature miRNA region
EP300	Mature miRNA region
ZBTB14	Mature miRNA region
BRCA1	Mature miRNA region
MKI67	Mature miRNA region
UVRAG	Mature miRNA region
CCNO	Mature miRNA region
NOL12	Mature miRNA region
ALCAM	Mature miRNA region
SGCB	Mature miRNA region
CEP128	Mature miRNA region
TMPO	Mature miRNA region
MIB1	Mature miRNA region
RAD1	Mature miRNA region
AP3M2	Mature miRNA region
GEN1	Mature miRNA region
RAB8B	Mature miRNA region
DYRK1A	Mature miRNA region
CDC20	Mature miRNA region
RAB11FIP2	Mature miRNA region
EME1	Mature miRNA region
UBL3	Mature miRNA region
OSBPL6	Mature miRNA region
SH3BP4	Mature miRNA region
RAD21	Mature miRNA region
NAA20	Mature miRNA region
LRRFIP1	Mature miRNA region
DBF4B	Mature miRNA region
MIPOL1	Mature miRNA region
PPAT	Mature miRNA region
HIST2H3A	Mature miRNA region
WNT3	Mature miRNA region
PRPS2	Mature miRNA region
PAK6	Mature miRNA region
PMF1	Mature miRNA region
KIF20B	Mature miRNA region
CLIP4	Mature miRNA region
NKX3-1	Mature miRNA region
NUCKS1	Mature miRNA region
CENPI	Mature miRNA region
NBN	Mature miRNA region
NPTXR	Mature miRNA region
OPA1	Mature miRNA region
ZSWIM3	Mature miRNA region
VPS13C	Mature miRNA region
ZNF114	Mature miRNA region
KBTBD11	Mature miRNA region
DICER1	Mature miRNA region
TBC1D22B	Mature miRNA region
IDI1	Mature miRNA region
C9orf163	Mature miRNA region
COPS7A	Mature miRNA region
CAMK4	Mature miRNA region
MKL2	Mature miRNA region
CADPS2	Mature miRNA region
PCSK9	Mature miRNA region
EFCAB11	Mature miRNA region
INPP5F	Mature miRNA region
MAP1LC3B	Mature miRNA region
NUFIP1	Mature miRNA region
STIL	Mature miRNA region
CHPT1	Mature miRNA region
PLAU	Mature miRNA region
ZNF346	Mature miRNA region
C18orf54	Mature miRNA region
PIGM	Mature miRNA region
WHSC1	Mature miRNA region
FEN1	Mature miRNA region
MACF1	Mature miRNA region
ECT2	Mature miRNA region
CTCF	Mature miRNA region
TMEM30A	Mature miRNA region
CCDC176	Mature miRNA region
C10orf35	Mature miRNA region
SAMHD1	Mature miRNA region
CCDC15	Mature miRNA region
ARHGAP29	Mature miRNA region
GPR126	Mature miRNA region
ZDHHC23	Mature miRNA region
CPSF6	Mature miRNA region
GNRH1	Mature miRNA region
MTSS1	Mature miRNA region
STX7	Mature miRNA region
RAB2A	Mature miRNA region
HAUS3	Mature miRNA region
KCTD12	Mature miRNA region
KCNS3	Mature miRNA region
ZBTB10	Mature miRNA region
BCL2	Mature miRNA region
HOXA13	Mature miRNA region
ANAPC15	Mature miRNA region
SLC35G1	Mature miRNA region
RNF6	Mature miRNA region
PODXL	Mature miRNA region
GPR19	Mature miRNA region
PDLIM3	Mature miRNA region
NCBP1	Mature miRNA region
SMC2	Mature miRNA region
FAM126B	Mature miRNA region
MCM9	Mature miRNA region
DIS3L	Mature miRNA region
ZDHHC2	Mature miRNA region
EXTL2	Mature miRNA region
PHTF2	Mature miRNA region
IL17RB	Mature miRNA region
POU2F1	Mature miRNA region
RAB40B	Mature miRNA region
IQGAP1	Mature miRNA region
IGF1R	Mature miRNA region
ATAD5	Mature miRNA region
STAM	Mature miRNA region
C1orf86	Mature miRNA region
RAD51	Mature miRNA region
SPCS3	Mature miRNA region
ENTPD7	Mature miRNA region
ENC1	Mature miRNA region
ZIC5	Mature miRNA region
CMTM6	Mature miRNA region
CCNY	Mature miRNA region
TMEM169	Mature miRNA region
BTC	Mature miRNA region
EMC7	Mature miRNA region
CLK4	Mature miRNA region
SOAT1	Mature miRNA region
KIF5C	Mature miRNA region
CIB2	Mature miRNA region
DEPDC1	Mature miRNA region
PIM1	Mature miRNA region
TBC1D31	Mature miRNA region
ITGB1	Mature miRNA region
PLK4	Mature miRNA region
TCF7	Mature miRNA region
ANAPC10	Mature miRNA region
UBE2D1	Mature miRNA region
RAB6C	Mature miRNA region
GPANK1	Mature miRNA region
TMTC2	Mature miRNA region
NPHP3	Mature miRNA region
CUL5	Mature miRNA region
RNASE4	Mature miRNA region
RMI1	Mature miRNA region
MRPL13	Mature miRNA region
TNFSF12	Mature miRNA region
TRIM59	Mature miRNA region
SFR1	Mature miRNA region
IRAK1	Mature miRNA region
ASPM	Mature miRNA region
GATAD1	Mature miRNA region
EAF1	Mature miRNA region
DEK	Mature miRNA region
ZMAT3	Mature miRNA region
AMMECR1	Mature miRNA region
APPL1	Mature miRNA region
ZNF611	Mature miRNA region
PTPRE	Mature miRNA region
CCDC14	Mature miRNA region
PPP1CA	Mature miRNA region
DTL	Mature miRNA region
DHCR24	Mature miRNA region
SLC26A2	Mature miRNA region
SERAC1	Mature miRNA region
RAC1	Mature miRNA region
NEDD1	Mature miRNA region
FAM126A	Mature miRNA region
TMEM2	Mature miRNA region
MEIS2	Mature miRNA region
VASH2	Mature miRNA region
TRIP13	Mature miRNA region
TROAP	Mature miRNA region
UCK1	Mature miRNA region
MIS12	Mature miRNA region
SEPT10	Mature miRNA region
LRIG1	Mature miRNA region
NUDT15	Mature miRNA region
GULP1	Mature miRNA region
PRPF38A	Mature miRNA region
SLC16A14	Mature miRNA region
ACSF3	Mature miRNA region
ZBTB33	Mature miRNA region
LIN9	Mature miRNA region
IRX4	Mature miRNA region
NSF	Mature miRNA region
POLA2	Mature miRNA region
CGNL1	Mature miRNA region
SLC35F3	Mature miRNA region
RET	Mature miRNA region
PRKAR1A	Mature miRNA region
CRLF3	Mature miRNA region
SLC39A8	Mature miRNA region
CHML	Mature miRNA region
CDKN2D	Mature miRNA region
MTDH	Mature miRNA region
NRG4	Mature miRNA region
SYNGR1	Mature miRNA region
LEAP2	Mature miRNA region
C17orf58	Mature miRNA region
SIX4	Mature miRNA region
USP54	Mature miRNA region
ORC1	Mature miRNA region
TMED7-TICAM2	Mature miRNA region
METTL9	Mature miRNA region
USP14	Mature miRNA region
ITGAV	Mature miRNA region
TCHP	Mature miRNA region
NDE1	Mature miRNA region
IFNLR1	Mature miRNA region
NT5M	Mature miRNA region
CCZ1B	Mature miRNA region
TOPBP1	Mature miRNA region
SEC24D	Mature miRNA region
MAPK9	Mature miRNA region
TTF2	Mature miRNA region
PGM3	Mature miRNA region
IL7	Mature miRNA region
FBXO36	Mature miRNA region
ZFP30	Mature miRNA region
RBP7	Mature miRNA region
KLHL8	Mature miRNA region
ARL4C	Mature miRNA region
COBLL1	Mature miRNA region
AP1S2	Mature miRNA region
AGO1	Mature miRNA region
SMARCA2	Mature miRNA region
GPR37	Mature miRNA region
ZNF230	Mature miRNA region
FOS	Mature miRNA region
WWC2	Mature miRNA region
NFKBIZ	Mature miRNA region
SLC1A4	Mature miRNA region
ARHGEF26	Mature miRNA region
DDX50	Mature miRNA region
B3GALNT1	Mature miRNA region
IRAK4	Mature miRNA region
DNAJB5	Mature miRNA region
UBE2V2	Mature miRNA region
HINT3	Mature miRNA region
ZBTB6	Mature miRNA region
RUFY3	Mature miRNA region
CLN6	Mature miRNA region
SRD5A1	Mature miRNA region
TOR3A	Mature miRNA region
RPS6KB1	Mature miRNA region
FAM171B	Mature miRNA region
CCNE1	Mature miRNA region
THOP1	Mature miRNA region
PTPN12	Mature miRNA region
CDC14A	Mature miRNA region
ZNF165	Mature miRNA region
PSMC3IP	Mature miRNA region
USP1	Mature miRNA region
CRK	Mature miRNA region
SMC4	Mature miRNA region
DBT	Mature miRNA region
SERTAD4	Mature miRNA region
CCDC150	Mature miRNA region
SOWAHC	Mature miRNA region
PSRC1	Mature miRNA region
HAS3	Mature miRNA region
CDCA4	Mature miRNA region
TRAIP	Mature miRNA region
SPRY4	Mature miRNA region
ALDH5A1	Mature miRNA region
PLEKHF2	Mature miRNA region
MCAM	Mature miRNA region
NMI	Mature miRNA region
HIATL1	Mature miRNA region
IL1R1	Mature miRNA region
MCM3	Mature miRNA region
PLAGL2	Mature miRNA region
PRKD3	Mature miRNA region
NLK	Mature miRNA region
THEM6	Mature miRNA region
USP18	Mature miRNA region
CLSTN1	Mature miRNA region
ZBTB18	Mature miRNA region
HNF1B	Mature miRNA region
MIS18BP1	Mature miRNA region
MXI1	Mature miRNA region
CKLF	Mature miRNA region
LGMN	Mature miRNA region
C1D	Mature miRNA region
LRP8	Mature miRNA region
TOR1B	Mature miRNA region
KIF5B	Mature miRNA region
CENPA	Mature miRNA region
STK3	Mature miRNA region
HSPBAP1	Mature miRNA region
ATAD1	Mature miRNA region
OGFRL1	Mature miRNA region
CYP24A1	Mature miRNA region
ZNHIT3	Mature miRNA region
GPC4	Mature miRNA region
BCL2L13	Mature miRNA region
CENPK	Mature miRNA region
ELOVL1	Mature miRNA region
ARFGEF1	Mature miRNA region
DEGS1	Mature miRNA region
PAFAH1B1	Mature miRNA region
OSBPL8	Mature miRNA region
GINM1	Mature miRNA region
MAP6D1	Mature miRNA region
EEF1A2	Mature miRNA region
SKA1	Mature miRNA region
TRIM68	Mature miRNA region
FOXD1	Mature miRNA region
KIF18A	Mature miRNA region
IMPA1	Mature miRNA region
LAMTOR5	Mature miRNA region
PRSS23	Mature miRNA region
TMEFF1	Mature miRNA region
MSH6	Mature miRNA region
GPR180	Mature miRNA region
ZNF215	Mature miRNA region
ENPP4	Mature miRNA region
PAWR	Mature miRNA region
USP12	Mature miRNA region
MDC1	Mature miRNA region
LHFP	Mature miRNA region
HMMR	Mature miRNA region
BLM	Mature miRNA region
TMEM246	Mature miRNA region
EAF2	Mature miRNA region
SLC16A6	Mature miRNA region
MT1F	Mature miRNA region
CREBZF	Mature miRNA region
SOCS2	Mature miRNA region
BIVM	Mature miRNA region
MCM10	Mature miRNA region
DLG5	Mature miRNA region
PABPC4	Mature miRNA region
EGR1	Mature miRNA region
RNF26	Mature miRNA region
DHFRL1	Mature miRNA region
IL6ST	Mature miRNA region
RAD54B	Mature miRNA region
CCSAP	Mature miRNA region
TMEM66	Mature miRNA region
CHST12	Mature miRNA region
MNS1	Mature miRNA region
ATG4A	Mature miRNA region
SCD	Mature miRNA region
IL15	Mature miRNA region
TRIM23	Mature miRNA region
RSRC1	Mature miRNA region
PRDM4	Mature miRNA region
BCOR	Mature miRNA region
RB1	Mature miRNA region
ZMYND11	Mature miRNA region
C1orf198	Mature miRNA region
KCNMB4	Mature miRNA region
ICK	Mature miRNA region
IL1RAP	Mature miRNA region
SAYSD1	Mature miRNA region
SLC39A9	Mature miRNA region
MPZL1	Mature miRNA region
NCOA3	Mature miRNA region
PPP2R3B	Mature miRNA region
EMC1	Mature miRNA region
CUZD1	Mature miRNA region
SCMH1	Mature miRNA region
MDM4	Mature miRNA region
LMAN1	Mature miRNA region
TRPC1	Mature miRNA region
SNX13	Mature miRNA region
PIGX	Mature miRNA region
CLSPN	Mature miRNA region
CCDC47	Mature miRNA region
TAF9B	Mature miRNA region
ELL2	Mature miRNA region
E2F8	Mature miRNA region
DEAF1	Mature miRNA region
FUBP1	Mature miRNA region
RNFT1	Mature miRNA region
PTPLAD1	Mature miRNA region
L2HGDH	Mature miRNA region
LARS	Mature miRNA region
ANKRD6	Mature miRNA region
ZNF652	Mature miRNA region
TMEM106A	Mature miRNA region
PLCE1	Mature miRNA region
CMPK1	Mature miRNA region
MEX3B	Mature miRNA region
TMEM164	Mature miRNA region
CEP19	Mature miRNA region
SS18	Mature miRNA region
ARHGAP11A	Mature miRNA region
WWC3	Mature miRNA region
INSIG1	Mature miRNA region
BARD1	Mature miRNA region
CSGALNACT2	Mature miRNA region
ZNF701	Mature miRNA region
SEC23B	Mature miRNA region
C1orf112	Mature miRNA region
TPM4	Mature miRNA region
SPAG9	Mature miRNA region
MAN2A2	Mature miRNA region
LRRFIP2	Mature miRNA region
CASP7	Mature miRNA region
UACA	Mature miRNA region
KIF20A	Mature miRNA region
C12orf65	Mature miRNA region
PKP4	Mature miRNA region
KAT2B	Mature miRNA region
ZNF200	Mature miRNA region
CORO2B	Mature miRNA region
PTBP2	Mature miRNA region
ZNF273	Mature miRNA region
ACVR2B	Mature miRNA region
TRPV1	Mature miRNA region
C4orf32	Mature miRNA region
ABCB10	Mature miRNA region
ARHGAP19	Mature miRNA region
C8orf47	Mature miRNA region
SLC35B4	Mature miRNA region
FBXO25	Mature miRNA region
BMPR2	Mature miRNA region
UBE2W	Mature miRNA region
RADIL	Mature miRNA region
CLK1	Mature miRNA region
KIF24	Mature miRNA region
RAB3B	Mature miRNA region
RAP1GAP	Mature miRNA region
PCOLCE2	Mature miRNA region
XIAP	Mature miRNA region
PARP16	Mature miRNA region
AKAP11	Mature miRNA region
EPM2A	Mature miRNA region
CHSY3	Mature miRNA region
NAB1	Mature miRNA region
CTNNBIP1	Mature miRNA region
FAM189A2	Mature miRNA region
RECQL	Mature miRNA region
HADH	Mature miRNA region
NAA50	Mature miRNA region
PARN	Mature miRNA region
RIMKLA	Mature miRNA region
EML1	Mature miRNA region
KIF23	Mature miRNA region
NCAPH	Mature miRNA region
ZNF519	Mature miRNA region
LMNB2	Mature miRNA region
RHOBTB3	Mature miRNA region
DST	Mature miRNA region
ZFP1	Mature miRNA region
XK	Mature miRNA region
CTH	Mature miRNA region
CNEP1R1	Mature miRNA region
GFOD1	Mature miRNA region
LIPA	Mature miRNA region
FAXC	Mature miRNA region
TMEM180	Mature miRNA region
MSN	Mature miRNA region
TJP2	Mature miRNA region
EIF2AK3	Mature miRNA region
C5orf30	Mature miRNA region
ATF1	Mature miRNA region
ZNF267	Mature miRNA region
NOD2	Mature miRNA region
NREP	Mature miRNA region
CA8	Mature miRNA region
RACGAP1	Mature miRNA region
CDKN2A	Mature miRNA region
ZNF45	Mature miRNA region
AASDHPPT	Mature miRNA region
MTERFD1	Mature miRNA region
ROPN1L	Mature miRNA region
TUBGCP3	Mature miRNA region
TNFSF13B	Mature miRNA region
ID2	Mature miRNA region
MRPL50	Mature miRNA region
FBXO4	Mature miRNA region
MMP20	Mature miRNA region
HNRNPA1	Mature miRNA region
PITPNB	Mature miRNA region
HESX1	Mature miRNA region
SLCO3A1	Mature miRNA region
ASRGL1	Mature miRNA region
CD164	Mature miRNA region
KLHL23	Mature miRNA region
LYRM7	Mature miRNA region
UBASH3B	Mature miRNA region
THBD	Mature miRNA region
RNF219	Mature miRNA region
SCRN3	Mature miRNA region
DDX3X	Mature miRNA region
TEX30	Mature miRNA region
CHD7	Mature miRNA region
C1QTNF3	Mature miRNA region
PLOD1	Mature miRNA region
FAIM	Mature miRNA region
TTK	Mature miRNA region
LARP1B	Mature miRNA region
TMEM200B	Mature miRNA region
SLC7A11	Mature miRNA region
HYLS1	Mature miRNA region
PPARG	Mature miRNA region
ATP5L	Mature miRNA region
CXorf57	Mature miRNA region
RAB23	Mature miRNA region
FUT11	Mature miRNA region
HSPA2	Mature miRNA region
PTPN13	Mature miRNA region
ZNF385B	Mature miRNA region
EPS8	Mature miRNA region
PTS	Mature miRNA region
KIF15	Mature miRNA region
ACTR2	Mature miRNA region
SLC16A7	Mature miRNA region
FAM222A	Mature miRNA region
MED22	Mature miRNA region
GAS2L3	Mature miRNA region
EFNB2	Mature miRNA region
DSN1	Mature miRNA region
ATP6V1G1	Mature miRNA region
HES6	Mature miRNA region
INIP	Mature miRNA region
KDM4D	Mature miRNA region
MRPL43	Mature miRNA region
STAMBPL1	Mature miRNA region
TOP1	Mature miRNA region
DNAJB4	Mature miRNA region
B3GNT5	Mature miRNA region
CREBL2	Mature miRNA region
RIC8B	Mature miRNA region
SLC25A40	Mature miRNA region
RDM1	Mature miRNA region
ELF1	Mature miRNA region
SGOL2	Mature miRNA region
NUF2	Mature miRNA region
CKAP2L	Mature miRNA region
AKAP7	Mature miRNA region
PLS3	Mature miRNA region
CENPE	Mature miRNA region
NIPA1	Mature miRNA region
FERMT1	Mature miRNA region
SLC25A51	Mature miRNA region
COQ3	Mature miRNA region
WNK1	Mature miRNA region
ZNF184	Mature miRNA region
C8orf46	Mature miRNA region
MCM6	Mature miRNA region
RTKN2	Mature miRNA region
ARHGEF40	Mature miRNA region

Extended variants
information (count: 3273 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:3273 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11118490	chr1:220210273-220210274	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541970517	chr1:220210284-220210285	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113145046	chr1:220210375-220210376	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs199703723	chr1:220210386-220210387	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561733675	chr1:220210428-220210429	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530329795	chr1:220210431-220210432	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141366869	chr1:220210456-220210457	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370571381	chr1:220210460-220210461	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532831070	chr1:220210474-220210475	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552324589	chr1:220210517-220210518	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569213305	chr1:220210563-220210564	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183211015	chr1:220210566-220210567	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554658158	chr1:220210567-220210568	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555096372	chr1:220210622-220210623	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568175337	chr1:220210685-220210686	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533741270	chr1:220210709-220210710	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553927536	chr1:220210779-220210780	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577100345	chr1:220210791-220210792	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575106894	chr1:220210792-220210793	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368039543	chr1:220210833-220210834	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145149750	chr1:220210845-220210846	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372061740	chr1:220210868-220210869	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186496940	chr1:220210917-220210918	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76572433	chr1:220210928-220210929	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111725397	chr1:220210938-220210939	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs56393650	chr1:220210967-220210968	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572171571	chr1:220211007-220211008	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540869648	chr1:220211046-220211047	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146901756	chr1:220211075-220211076	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190886882	chr1:220211161-220211162	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182513438	chr1:220211194-220211195	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563005790	chr1:220211249-220211250	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12117454	chr1:220211259-220211260	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs112291982	chr1:220211282-220211283	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568261950	chr1:220211317-220211318	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116993639	chr1:220211319-220211320	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs72747318	chr1:220211341-220211342	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs370881863	chr1:220211349-220211350	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570601955	chr1:220211381-220211382	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373970720	chr1:220211424-220211425	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35446521	chr1:220211425-220211426	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs397860688	chr1:220211441-220211442	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76553373	chr1:220211442-220211443	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528288788	chr1:220211496-220211497	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556433316	chr1:220211505-220211506	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140698419	chr1:220211560-220211561	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535493166	chr1:220211585-220211586	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555393887	chr1:220211662-220211663	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577296728	chr1:220211663-220211664	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192694868	chr1:220211666-220211667	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:3587 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220166400-220210600	Strong transcription	Duodenum Mucosa	Duodenum
2	chr1:220167800-220211800	Weak transcription	Stomach Mucosa	stomach
3	chr1:220168400-220213800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:220170400-220218600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:220172600-220218600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:220178000-220217800	Weak transcription	Pancreas	Pancrea
7	chr1:220178200-220218600	Weak transcription	Right Ventricle	heart
8	chr1:220187200-220216800	Weak transcription	Fetal Heart	heart
9	chr1:220187400-220216800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:220190800-220210400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:220193600-220218600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:220194800-220211600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:220194800-220211800	Weak transcription	Esophagus	oesophagus
14	chr1:220194800-220212200	Weak transcription	Aorta	Aorta
15	chr1:220196400-220211600	Weak transcription	Gastric	stomach
16	chr1:220196400-220218200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr1:220196600-220212200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:220197200-220217800	Weak transcription	Colonic Mucosa	Colon
19	chr1:220197400-220212000	Weak transcription	Small Intestine	intestine
20	chr1:220197600-220211800	Weak transcription	Spleen	Spleen
21	chr1:220199600-220216800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:220200200-220212200	Strong transcription	GM12878-XiMat	blood
23	chr1:220203400-220218600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:220205000-220212200	Weak transcription	Fetal Kidney	kidney
25	chr1:220205200-220216800	Weak transcription	Fetal Brain Male	brain
26	chr1:220205200-220218200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:220206200-220212000	Weak transcription	Brain Angular Gyrus	brain
28	chr1:220206200-220212000	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:220206600-220211600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:220206600-220211600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:220206600-220211600	Weak transcription	Left Ventricle	heart
32	chr1:220206600-220211800	Weak transcription	Ovary	ovary
33	chr1:220206600-220211800	Weak transcription	Thymus	Thymus
34	chr1:220206600-220212000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr1:220206600-220212000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr1:220206600-220212000	Weak transcription	A549	lung
37	chr1:220206600-220212000	Weak transcription	HSMMtube	muscle
38	chr1:220206600-220217000	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr1:220206800-220211200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr1:220206800-220211600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:220206800-220211800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr1:220206800-220211800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:220206800-220211800	Weak transcription	Fetal Intestine Small	intestine
44	chr1:220206800-220211800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:220206800-220212000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr1:220206800-220212000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr1:220206800-220213000	Weak transcription	Psoas Muscle	Psoas
48	chr1:220206800-220218200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:220206800-220219000	Weak transcription	Fetal Lung	lung
50	chr1:220207000-220212200	Weak transcription	NHLF	lung

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