Variant report

Variant	nsv947468
Chromosome Location	chr1:220287976-220292749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:76)
CpG islands
(count:122)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 3)
miRNA target
sites (count:0)

(count:76 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:220291692-220291877	K562	blood:	n/a	n/a
2	ARID3A	chr1:220292276-220292860	K562	blood:	n/a	n/a
3	ATF1	chr1:220292347-220292837	K562	blood:	n/a	n/a
4	ATF1	chr1:220291553-220291620	K562	blood:	n/a	n/a
5	ATF3	chr1:220292314-220292822	K562	blood:	n/a	chr1:220292525-220292538
6	BHLHE40	chr1:220292359-220292779	K562	blood:	n/a	n/a
7	BRCA1	chr1:220292195-220292729	Hela-S3	cervix:	n/a	n/a
8	CCNT2	chr1:220292425-220293139	K562	blood:	n/a	n/a
9	CEBPB	chr1:220292275-220292842	Hela-S3	cervix:	n/a	chr1:220292520-220292528 chr1:220292317-220292334
10	CEBPB	chr1:220292214-220292898	K562	blood:	n/a	chr1:220292520-220292528 chr1:220292317-220292334
11	CEBPB	chr1:220292374-220292850	K562	blood:	n/a	chr1:220292520-220292528
12	CEBPD	chr1:220292363-220292819	K562	blood:	n/a	n/a
13	CEBPD	chr1:220292280-220292911	K562	blood:	n/a	n/a
14	CHD2	chr1:220292393-220292717	Hela-S3	cervix:	n/a	n/a
15	CREB1	chr1:220292103-220293033	K562	blood:	n/a	n/a
16	CREB1	chr1:220292319-220292768	K562	blood:	n/a	n/a
17	CUX1	chr1:220292341-220292857	K562	blood:	n/a	n/a
18	EP300	chr1:220292361-220292886	K562	blood:	n/a	n/a
19	EP300	chr1:220292342-220292830	Hela-S3	cervix:	n/a	n/a
20	ETS1	chr1:220292479-220292805	GM12878	blood:	n/a	n/a
21	FOSL1	chr1:220292396-220292705	K562	blood:	n/a	n/a
22	GATA2	chr1:220292365-220292778	K562	blood:	n/a	chr1:220292606-220292613 chr1:220292606-220292616 chr1:220292718-220292727
23	GTF2F1	chr1:220292315-220292704	Hela-S3	cervix:	n/a	n/a
24	HDAC2	chr1:220292345-220292611	K562	blood:	n/a	n/a
25	IRF1	chr1:220292274-220292840	K562	blood:	n/a	chr1:220292520-220292529
26	IRF1	chr1:220292212-220292830	K562	blood:	n/a	chr1:220292247-220292263 chr1:220292520-220292529
27	IRF1	chr1:220292002-220292017	K562	blood:	n/a	n/a
28	JUN	chr1:220292367-220292762	K562	blood:	n/a	n/a
29	JUN	chr1:220292359-220292775	K562	blood:	n/a	n/a
30	JUN	chr1:220292352-220292783	K562	blood:	n/a	n/a
31	JUN	chr1:220292388-220292767	K562	blood:	n/a	n/a
32	JUN	chr1:220292358-220292805	K562	blood:	n/a	n/a
33	JUN	chr1:220292006-220292759	Hela-S3	cervix:	n/a	n/a
34	JUN	chr1:220289778-220289780	K562	blood:	n/a	n/a
35	JUN	chr1:220291339-220293017	K562	blood:	n/a	n/a
36	JUND	chr1:220292331-220292857	K562	blood:	n/a	n/a
37	JUND	chr1:220292316-220292782	Hela-S3	cervix:	n/a	n/a
38	KAP1	chr1:220292285-220292858	U2OS	brain:	n/a	n/a
39	KAP1	chr1:220292286-220292846	HEK293	kidney:	n/a	n/a
40	KAP1	chr1:220291246-220291564	K562	blood:	n/a	n/a
41	MAFK	chr1:220292293-220292733	Hela-S3	cervix:	n/a	n/a
42	MAFK	chr1:220292371-220292470	HepG2	liver:	n/a	n/a
43	MAX	chr1:220292353-220292725	Hela-S3	cervix:	n/a	n/a
44	MAZ	chr1:220292409-220292789	K562	blood:	n/a	n/a
45	MYC	chr1:220292288-220292795	K562	blood:	n/a	n/a
46	MYC	chr1:220292400-220292743	K562	blood:	n/a	n/a
47	MYC	chr1:220292591-220292613	K562	blood:	n/a	n/a
48	NR2F2	chr1:220292343-220292868	K562	blood:	n/a	n/a
49	NR2F2	chr1:220292282-220292997	K562	blood:	n/a	n/a
50	PML	chr1:220292305-220292935	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:220292590-220292640	AG04449	skin:	fetal
2	chr1:220292590-220292640	CMK	blood:	n/a
3	chr1:220292590-220292640	HEK293	kidney:	embryo
4	chr1:220292590-220292640	ovcar-3	ovarian:	n/a
5	chr1:220292590-220292640	HepG2	liver:	n/a
6	chr1:220292590-220292640	HMEC	breast:	n/a
7	chr1:220292590-220292640	HAEpiC	amniotic membrane:	n/a
8	chr1:220292590-220292640	AG09319	gingival:	n/a
9	chr1:220292590-220292640	HCF	heart:	n/a
10	chr1:220292508-220292558	LNCaP	prostate:	n/a
11	chr1:220292590-220292640	Jurkat	blood:	n/a
12	chr1:220292590-220292640	AoSMC	blood vessel:	n/a
13	chr1:220292508-220292558	HAEpiC	amniotic membrane:	n/a
14	chr1:220292590-220292640	A549	lung:	n/a
15	chr1:220292508-220292558	SK-N-SH	brain:	n/a
16	chr1:220292590-220292640	MCF-7	breast:	n/a
17	chr1:220292508-220292558	ProgFib	skin:	n/a
18	chr1:220292590-220292640	BE2_C	brain:	n/a
19	chr1:220292508-220292558	CMK	blood:	n/a
20	chr1:220292590-220292640	NT2-D1	testis:	n/a
21	chr1:220292508-220292558	ovcar-3	ovarian:	n/a
22	chr1:220292590-220292640	SK-N-MC	brain:	n/a
23	chr1:220292590-220292640	HRE	kidney:	n/a
24	chr1:220292508-220292558	GM12891	blood:	n/a
25	chr1:220292508-220292558	SKMC	muscle:	n/a
26	chr1:220292508-220292558	PFSK-1	brain:	n/a
27	chr1:220292508-220292558	T-47D	breast:	n/a
28	chr1:220292508-220292558	HRCEpiC	kidney:	n/a
29	chr1:220292590-220292640	PANC-1	pancreas:	n/a
30	chr1:220292508-220292558	GM06990	blood:	n/a
31	chr1:220292508-220292558	HCT-116	colon:	n/a
32	chr1:220292590-220292640	SK-N-SH_RA	brain:	n/a
33	chr1:220292508-220292558	HepG2	liver:	n/a
34	chr1:220292508-220292558	PrEC	prostate:	n/a
35	chr1:220292508-220292558	BE2_C	brain:	n/a
36	chr1:220292508-220292558	NH-A	brain:	n/a
37	chr1:220292590-220292640	ECC-1	luminal epithelium:	n/a
38	chr1:220292590-220292640	SAEC	small airway:	n/a
39	chr1:220292590-220292640	NHBE	bronchial:	n/a
40	chr1:220292590-220292640	U87	brain:	n/a
41	chr1:220292508-220292558	HCPEpiC	choroid plexus:	n/a
42	chr1:220292508-220292558	ECC-1	luminal epithelium:	n/a
43	chr1:220292590-220292640	PFSK-1	brain:	n/a
44	chr1:220292590-220292640	HPAEpiC	pulmonary alveolar:	n/a
45	chr1:220292590-220292640	Caco-2	colon:	n/a
46	chr1:220292508-220292558	HRPEpiC	eye:	n/a
47	chr1:220292590-220292640	NH-A	brain:	n/a
48	chr1:220292508-220292558	BJ	skin:	n/a
49	chr1:220292508-220292558	HL-60	blood:	n/a
50	chr1:220292590-220292640	T-47D	breast:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:220285273..220288143-chr1:220290128..220292284,2	K562	blood:
2	chr1:220266934..220269601-chr1:220286713..220289289,2	K562	blood:
3	chr1:220292461..220294314-chr1:220300641..220303068,2	MCF-7	breast:
4	chr1:220266934..220268710-chr1:220286713..220288993,3	K562	blood:
5	chr1:220285273..220288143-chr1:220290128..220292284,2	K562	blood:
6	chr1:220266254..220269129-chr1:220290209..220292443,2	MCF-7	breast:
7	chr1:220163115..220165079-chr1:220292412..220294107,2	K562	blood:

No data

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

No data

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

Extended variants
information (count: 163 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:163 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140796582	chr1:220288081-220288082	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs79926357	chr1:220288100-220288101	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs1465815	chr1:220288188-220288189	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs368576083	chr1:220288196-220288197	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs1124763	chr1:220288208-220288209	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs147672411	chr1:220288219-220288220	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs571617085	chr1:220288232-220288233	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs537253643	chr1:220288234-220288235	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs556837230	chr1:220288244-220288245	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs191143087	chr1:220288268-220288269	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs367706229	chr1:220288283-220288284	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs5781165	chr1:220288284-220288285	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs75672769	chr1:220288295-220288296	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs79007403	chr1:220288296-220288297	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs77530758	chr1:220288297-220288298	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs182233065	chr1:220288319-220288320	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs2118374	chr1:220288341-220288342	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs1039207	chr1:220288405-220288406	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs542739355	chr1:220288430-220288431	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs1039206	chr1:220288432-220288433	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs142393004	chr1:220288459-220288460	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs558637660	chr1:220288489-220288490	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs575205697	chr1:220288542-220288543	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs544007243	chr1:220288585-220288586	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs563723043	chr1:220288609-220288610	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs188020222	chr1:220288632-220288633	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs376281179	chr1:220288633-220288634	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs191160142	chr1:220288640-220288641	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs559356119	chr1:220288646-220288647	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs528482527	chr1:220288652-220288653	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs200677721	chr1:220288658-220288659	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs551459670	chr1:220288690-220288691	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs113012455	chr1:220288722-220288723	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs12402405	chr1:220288727-220288728	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs2004080	chr1:220288729-220288730	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs183278405	chr1:220288734-220288735	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs188202281	chr1:220288740-220288741	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs1809854	chr1:220288755-220288756	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs372113260	chr1:220288797-220288798	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs566742439	chr1:220288883-220288884	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs538629068	chr1:220288885-220288886	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs558230439	chr1:220288940-220288941	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs17007135	chr1:220288958-220288959	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs143813353	chr1:220288999-220289000	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs557162653	chr1:220289009-220289010	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs373071235	chr1:220289024-220289025	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs146704847	chr1:220289062-220289063	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs72747390	chr1:220289082-220289083	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs148156339	chr1:220289119-220289120	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs193179413	chr1:220289257-220289258	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:291 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220268400-220293400	Weak transcription	Stomach Mucosa	stomach
2	chr1:220268400-220330200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:220268600-220293800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:220269200-220291600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:220269200-220291600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:220269200-220292800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:220269200-220293600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:220269400-220291200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:220269400-220330000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:220269600-220290600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:220269600-220291200	Strong transcription	Liver	Liver
12	chr1:220269600-220291400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:220269600-220291400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:220269600-220291400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:220269600-220291600	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:220269600-220291800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:220269800-220291000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:220269800-220291200	Strong transcription	Fetal Thymus	thymus
19	chr1:220269800-220291600	Strong transcription	Fetal Muscle Trunk	muscle
20	chr1:220269800-220292800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:220270000-220291200	Strong transcription	Placenta	Placenta
22	chr1:220270000-220291600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr1:220270000-220292800	Strong transcription	Primary B cells from peripheral blood	blood
24	chr1:220270400-220290000	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr1:220270400-220291600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr1:220270600-220293800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr1:220271000-220292000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:220272000-220293200	Strong transcription	Dnd41	blood
29	chr1:220274600-220291200	Strong transcription	Adipose Nuclei	Adipose
30	chr1:220275400-220289400	Strong transcription	GM12878-XiMat	blood
31	chr1:220276000-220289800	Strong transcription	Fetal Muscle Leg	muscle
32	chr1:220276400-220290400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:220277400-220289200	Weak transcription	Brain Substantia Nigra	brain
34	chr1:220277400-220290000	Strong transcription	Fetal Lung	lung
35	chr1:220278600-220288200	Weak transcription	Right Ventricle	heart
36	chr1:220278600-220316200	Weak transcription	Pancreas	Pancrea
37	chr1:220281200-220295200	Weak transcription	Right Atrium	heart
38	chr1:220281400-220288600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:220281400-220300600	Weak transcription	NHLF	lung
40	chr1:220281400-220307200	Weak transcription	Brain Angular Gyrus	brain
41	chr1:220281400-220307800	Weak transcription	Psoas Muscle	Psoas
42	chr1:220281400-220314400	Weak transcription	Fetal Brain Male	brain
43	chr1:220282400-220291000	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:220282600-220289800	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr1:220283000-220290000	Strong transcription	K562	blood
46	chr1:220283000-220292800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:220283000-220292800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:220284200-220290000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:220284400-220288600	Weak transcription	Esophagus	oesophagus
50	chr1:220284400-220289200	Weak transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links