Variant report

Variant	nsv608420
Chromosome Location	chr7:129397644-129444951
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1061)
CpG islands
(count:3790)
Chromatin interactive
region (count:113)
LncRNA
region (count:5)
Mature miRNA
region (count: 6)
miRNA target
sites (count:0)

(count:1061 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr7:129429040-129429044	K562	blood:	n/a	n/a
2	ATF2	chr7:129415813-129416557	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr7:129419771-129420075	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr7:129419357-129419901	K562	blood:	n/a	n/a
5	ATF3	chr7:129408622-129409358	K562	blood:	n/a	n/a
6	BACH1	chr7:129423258-129423326	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr7:129426914-129427114	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr7:129410289-129410317	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr7:129422266-129422970	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL3	chr7:129408697-129409362	K562	blood:	n/a	n/a
11	BCL3	chr7:129420172-129420625	A549	lung:	n/a	n/a
12	BHLHE40	chr7:129419742-129420589	K562	blood:	n/a	chr7:129419835-129419851
13	BHLHE40	chr7:129420331-129420566	HepG2	liver:	n/a	n/a
14	BHLHE40	chr7:129419031-129419032	K562	blood:	n/a	n/a
15	BHLHE40	chr7:129408534-129409657	K562	blood:	n/a	n/a
16	BHLHE40	chr7:129440661-129440871	HepG2	liver:	n/a	chr7:129440763-129440772 chr7:129440763-129440772 chr7:129440762-129440771
17	BHLHE40	chr7:129424910-129425166	K562	blood:	n/a	n/a
18	BHLHE40	chr7:129440608-129440906	K562	blood:	n/a	chr7:129440763-129440772 chr7:129440763-129440772 chr7:129440762-129440771
19	BRCA1	chr7:129420108-129420353	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr7:129419799-129419870	Hela-S3	cervix:	n/a	n/a
21	CBX3	chr7:129424642-129425527	K562	blood:	n/a	n/a
22	CBX3	chr7:129419447-129421913	K562	blood:	n/a	n/a
23	CBX3	chr7:129408341-129409758	K562	blood:	n/a	n/a
24	CBX3	chr7:129408429-129409190	K562	blood:	n/a	n/a
25	CBX3	chr7:129418545-129419440	K562	blood:	n/a	n/a
26	CBX3	chr7:129404143-129404905	K562	blood:	n/a	n/a
27	CBX3	chr7:129424885-129425427	K562	blood:	n/a	n/a
28	CCNT2	chr7:129418889-129420689	K562	blood:	n/a	chr7:129420453-129420462
29	CCNT2	chr7:129409004-129409444	K562	blood:	n/a	chr7:129409245-129409254
30	CCNT2	chr7:129424862-129425188	K562	blood:	n/a	chr7:129425033-129425042 chr7:129424892-129424901
31	CCNT2	chr7:129402473-129402722	K562	blood:	n/a	n/a
32	CEBPB	chr7:129437874-129438006	HepG2	liver:	n/a	n/a
33	CEBPB	chr7:129437748-129438133	HepG2	liver:	n/a	n/a
34	CEBPB	chr7:129437059-129437319	H1-hESC	embryonic stem cell:	n/a	chr7:129437213-129437222 chr7:129437213-129437224 chr7:129437211-129437222
35	CEBPB	chr7:129420137-129420480	A549	lung:	n/a	n/a
36	CEBPB	chr7:129437046-129437370	HepG2	liver:	n/a	chr7:129437213-129437222 chr7:129437213-129437224 chr7:129437211-129437222
37	CEBPB	chr7:129420062-129420461	HepG2	liver:	n/a	n/a
38	CEBPB	chr7:129437790-129438095	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr7:129420138-129420449	K562	blood:	n/a	n/a
40	CEBPB	chr7:129419845-129419891	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPB	chr7:129420089-129420614	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr7:129430024-129430253	IMR90	lung:	n/a	n/a
43	CEBPB	chr7:129437010-129437310	K562	blood:	n/a	chr7:129437213-129437222 chr7:129437213-129437224 chr7:129437211-129437222
44	CEBPB	chr7:129420180-129420293	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr7:129420128-129420431	HepG2	liver:	n/a	n/a
46	CEBPB	chr7:129437715-129438120	K562	blood:	n/a	n/a
47	CEBPB	chr7:129437747-129438122	A549	lung:	n/a	n/a
48	CEBPB	chr7:129420169-129420615	ECC-1	luminal epithelium:	n/a	n/a
49	CEBPB	chr7:129437763-129438108	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr7:129415509-129415845	H1-hESC	embryonic stem cell:	n/a	n/a

(count:3790 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:129402221-129402271	AG10803	skin:	n/a
2	chr7:129421353-129421403	HRPEpiC	eye:	n/a
3	chr7:129423354-129423404	Jurkat	blood:	n/a
4	chr7:129424539-129424589	NHBE	bronchial:	n/a
5	chr7:129414894-129414944	HUVEC	blood vessel:	n/a
6	chr7:129425330-129425380	K562	blood:	n/a
7	chr7:129410427-129410477	K562	blood:	n/a
8	chr7:129421353-129421403	Jurkat	blood:	n/a
9	chr7:129402221-129402271	AG10803	skin:	n/a
10	chr7:129421353-129421403	HRPEpiC	eye:	n/a
11	chr7:129423354-129423404	Jurkat	blood:	n/a
12	chr7:129424539-129424589	NHBE	bronchial:	n/a
13	chr7:129414894-129414944	HUVEC	blood vessel:	n/a
14	chr7:129425330-129425380	K562	blood:	n/a
15	chr7:129410427-129410477	K562	blood:	n/a
16	chr7:129421353-129421403	Jurkat	blood:	n/a
17	chr7:129417053-129417103	GM12878	blood:	n/a
18	chr7:129402790-129402840	HRPEpiC	eye:	n/a
19	chr7:129414651-129414701	NHBE	bronchial:	n/a
20	chr7:129444398-129444448	PFSK-1	brain:	n/a
21	chr7:129410227-129410277	GM12892	blood:	n/a
22	chr7:129424943-129424993	CMK	blood:	n/a
23	chr7:129410417-129410467	PANC-1	pancreas:	n/a
24	chr7:129403187-129403237	SAEC	small airway:	n/a
25	chr7:129414894-129414944	BE2_C	brain:	n/a
26	chr7:129414880-129414930	HCF	heart:	n/a
27	chr7:129399249-129399299	AG09319	gingival:	n/a
28	chr7:129414627-129414677	HCPEpiC	choroid plexus:	n/a
29	chr7:129425451-129425501	HCF	heart:	n/a
30	chr7:129415994-129416044	NHBE	bronchial:	n/a
31	chr7:129414694-129414744	RPTEC	kidney:	n/a
32	chr7:129414567-129414617	ECC-1	luminal epithelium:	n/a
33	chr7:129425858-129425908	HCM	heart:	n/a
34	chr7:129415301-129415351	HRPEpiC	eye:	n/a
35	chr7:129414868-129414918	GM12878	blood:	n/a
36	chr7:129410657-129410707	MCF10A-Er-Src	breast:	n/a
37	chr7:129410417-129410467	U87	brain:	n/a
38	chr7:129412730-129412780	NH-A	brain:	n/a
39	chr7:129419030-129419080	MCF10A-Er-Src	breast:	n/a
40	chr7:129410427-129410477	HUVEC	blood vessel:	n/a
41	chr7:129414317-129414367	GM19239	blood:	n/a
42	chr7:129401208-129401258	BE2_C	brain:	n/a
43	chr7:129425330-129425380	HAEpiC	amniotic membrane:	n/a
44	chr7:129424943-129424993	AoSMC	blood vessel:	n/a
45	chr7:129415994-129416044	HepG2	liver:	n/a
46	chr7:129417148-129417198	HCPEpiC	choroid plexus:	n/a
47	chr7:129402221-129402271	HCPEpiC	choroid plexus:	n/a
48	chr7:129422915-129422965	MCF10A-Er-Src	breast:	n/a
49	chr7:129418470-129418520	MCF-7	breast:	n/a
50	chr7:129424718-129424768	HCT-116	colon:	n/a

(count:113 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr7:129342836..129345962-chr7:129418257..129420117,4	MCF-7	breast:
2	chr7:129419635..129422610-chr7:129468261..129471456,4	MCF-7	breast:
3	chr7:129244640..129247034-chr7:129428547..129431253,2	K562	blood:
4	chr7:129287658..129290681-chr7:129418523..129421116,3	MCF-7	breast:
5	chr7:129417511..129419383-chr7:129468534..129470658,2	MCF-7	breast:
6	chr7:129262066..129264067-chr7:129418277..129420073,2	MCF-7	breast:
7	chr7:129443158..129445019-chr7:129452713..129455693,2	K562	blood:
8	chr7:129424493..129427743-chr7:129430236..129432207,3	MCF-7	breast:
9	chr7:129401300..129403744-chr7:129418644..129420478,3	MCF-7	breast:
10	chr7:129403968..129406043-chr7:129441740..129443595,2	K562	blood:
11	chr7:129263715..129266316-chr7:129418247..129420856,2	K562	blood:
12	chr7:129427078..129429949-chr7:129430780..129433313,3	K562	blood:
13	chr7:129399801..129403124-chr7:129418959..129421278,3	MCF-7	breast:
14	chr7:129435656..129438159-chr7:129441228..129443565,3	K562	blood:
15	chr7:129314893..129316809-chr7:129417977..129419979,2	K562	blood:
16	chr7:129361298..129364140-chr7:129418293..129421008,3	K562	blood:
17	chr7:129317551..129320481-chr7:129418444..129420547,3	MCF-7	breast:
18	chr7:129418686..129423959-chr7:129438384..129442719,6	MCF-7	breast:
19	chr7:129389570..129391224-chr7:129418594..129421023,2	MCF-7	breast:
20	chr7:129425011..129426914-chr7:129428046..129430047,2	MCF-7	breast:
21	chr7:129427180..129428804-chr7:129449721..129451379,2	MCF-7	breast:
22	chr11:66822544..66825120-chr7:129418562..129421328,2	MCF-7	breast:
23	chr7:128809246..128811789-chr7:129418189..129419962,2	MCF-7	breast:
24	chr7:129419844..129421398-chr8:128748410..128750522,2	MCF-7	breast:
25	chr13:114830682..114831247-chr7:129419879..129420637,2	Hela-S3	cervix:
26	chr7:129362619..129364140-chr7:129419422..129421008,2	K562	blood:
27	chr7:129350525..129352273-chr7:129405783..129407526,2	K562	blood:
28	chr7:129349986..129354083-chr7:129418762..129421039,4	MCF-7	breast:
29	chr7:129417063..129419855-chr7:129589780..129592870,4	MCF-7	breast:
30	chr7:129435296..129437587-chr7:129438576..129440962,3	K562	blood:
31	chr7:129415990..129422927-chr7:129459994..129470946,26	MCF-7	breast:
32	chr7:129417027..129423271-chr7:129428076..129437839,16	MCF-7	breast:
33	chr7:129342582..129344113-chr7:129417247..129419847,2	K562	blood:
34	chr7:129399801..129403124-chr7:129418959..129421278,3	MCF-7	breast:
35	chr7:129418555..129422595-chr7:129463586..129466468,3	K562	blood:
36	chr7:129251251..129253646-chr7:129418234..129419818,2	K562	blood:
37	chr7:129420506..129423623-chr7:129440322..129443284,4	K562	blood:
38	chr7:129403367..129409123-chr7:129416069..129420416,9	MCF-7	breast:
39	chr7:129397077..129398771-chr7:129415899..129417473,2	MCF-7	breast:
40	chr7:129403968..129406043-chr7:129441740..129443595,2	K562	blood:
41	chr7:129397077..129398771-chr7:129415899..129417473,2	MCF-7	breast:
42	chr7:129417802..129420248-chr7:129504470..129507326,2	MCF-7	breast:
43	chr7:129417027..129423271-chr7:129428076..129437839,16	MCF-7	breast:
44	chr7:129395908..129399517-chr7:129419607..129422113,4	MCF-7	breast:
45	chr4:169471440..169472123-chr7:129419596..129420324,2	HCT-116	colon:
46	chr7:129405931..129408629-chr7:129412296..129413845,2	MCF-7	breast:
47	chr7:129330503..129333006-chr7:129437406..129439224,2	K562	blood:
48	chr7:129288674..129290633-chr7:129421581..129423638,2	K562	blood:
49	chr7:129390482..129392654-chr7:129396448..129398436,2	MCF-7	breast:
50	chr7:129388926..129391795-chr7:129396383..129398661,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UBE2H-1	chr7:129424214-129424311	XLOC_006606
2	lnc-UBE2H-1	chr7:129424937-129425025	XLOC_006606
3	lnc-UBE2H-3	chr7:129402907-129403246	NONHSAT123305
4	lnc-UBE2H-3	chr7:129408291-129408711	NONHSAT123305
5	lnc-UBE2H-1	chr7:129423210-129423327	XLOC_006606

miRNA name	Chromosome Location	mirBase accession
hsa-miR-96-5p	chr7:129414579-129414601	MIMAT0000095
hsa-miR-183-3p	chr7:129414768-129414789	MIMAT0004560
hsa-miR-96-3p	chr7:129414537-129414558	MIMAT0004510
hsa-miR-182-5p	chr7:129410287-129410310	MIMAT0000259
hsa-miR-182-3p	chr7:129410246-129410266	MIMAT0000260
hsa-miR-183-5p	chr7:129414807-129414828	MIMAT0000261

No data

Variant related genes	Relation type
MIR96	TF binding region
MIR183	TF binding region
ENSG00000242078	TF binding region
MIR182	TF binding region
MIR96	CpG island
MIR183	CpG island
ENSG00000242078	CpG island
MIR182	CpG island
ENSG00000136997	chromatin interactions
ENSG00000242078	chromatin interactions
ENSG00000199158	chromatin interactions
ENSG00000231636	chromatin interactions
ENSG00000186591	chromatin interactions
ENSG00000207691	chromatin interactions
ENSG00000091732	chromatin interactions
ENSG00000106459	chromatin interactions
ENSG00000173156	chromatin interactions
ENSG00000146063	chromatin interactions
ENSG00000230359	chromatin interactions
ENSG00000064419	chromatin interactions
ENSG00000212238	chromatin interactions
ENSG00000273329	chromatin interactions
ENSG00000103274	chromatin interactions
ENSG00000005483	chromatin interactions
ENSG00000239569	chromatin interactions
RTN4	Mature miRNA region
C1orf174	Mature miRNA region
BRPF1	Mature miRNA region
TNKS1BP1	Mature miRNA region
BCL11B	Mature miRNA region
HOXA9	Mature miRNA region
SNX7	Mature miRNA region
HNRNPL	Mature miRNA region
FBXO21	Mature miRNA region
MTUS1	Mature miRNA region
FAM175B	Mature miRNA region
PROSC	Mature miRNA region
ERC1	Mature miRNA region
APITD1	Mature miRNA region
HSPA1B	Mature miRNA region
RPS6	Mature miRNA region
TMPO	Mature miRNA region
RCN2	Mature miRNA region
RECK	Mature miRNA region
GTF2A1	Mature miRNA region
C18orf25	Mature miRNA region
TRO	Mature miRNA region
USP16	Mature miRNA region
ABCF1	Mature miRNA region
FOXK2	Mature miRNA region
CNNM3	Mature miRNA region
ARFGAP2	Mature miRNA region
UBE2N	Mature miRNA region
RNF41	Mature miRNA region
EVI5	Mature miRNA region
CAMTA1	Mature miRNA region
STAG2	Mature miRNA region
PRKAR1A	Mature miRNA region
LARP1	Mature miRNA region
B4GALT3	Mature miRNA region
SCARB1	Mature miRNA region
CASC3	Mature miRNA region
KAT2A	Mature miRNA region
SUPT4H1	Mature miRNA region
MYO10	Mature miRNA region
FNTB	Mature miRNA region
YWHAG	Mature miRNA region
CLOCK	Mature miRNA region
GLUL	Mature miRNA region
FOXN2	Mature miRNA region
TWISTNB	Mature miRNA region
PSEN1	Mature miRNA region
RAB5B	Mature miRNA region
RDH11	Mature miRNA region
SMIM12	Mature miRNA region
DMWD	Mature miRNA region
HOXA5	Mature miRNA region
SLC25A46	Mature miRNA region
SLC2A3	Mature miRNA region
PAQR4	Mature miRNA region
REV3L	Mature miRNA region
TRIM37	Mature miRNA region
NOTCH2	Mature miRNA region
GAS1	Mature miRNA region
KDELC2	Mature miRNA region
FAM171A1	Mature miRNA region
HCFC1	Mature miRNA region
MGST1	Mature miRNA region
GSR	Mature miRNA region
STK33	Mature miRNA region
PRKAA2	Mature miRNA region
GSPT1	Mature miRNA region
CAPNS1	Mature miRNA region
UBE2Z	Mature miRNA region
DEK	Mature miRNA region
HIPK2	Mature miRNA region
ALKBH5	Mature miRNA region
GATA6	Mature miRNA region
DDIT3	Mature miRNA region
PRKCE	Mature miRNA region
AUH	Mature miRNA region
FLOT1	Mature miRNA region
APPL1	Mature miRNA region
SLC39A1	Mature miRNA region
FAM104A	Mature miRNA region
EP300	Mature miRNA region
RPAP2	Mature miRNA region
STIP1	Mature miRNA region
USP8	Mature miRNA region
GNL1	Mature miRNA region
SH3D19	Mature miRNA region
RPL23	Mature miRNA region
UCHL3	Mature miRNA region
MTSS1	Mature miRNA region
HLA-A	Mature miRNA region
P4HB	Mature miRNA region
CISD2	Mature miRNA region
BRIP1	Mature miRNA region
SLC35B4	Mature miRNA region
ANO6	Mature miRNA region
EEF1A1	Mature miRNA region
FOXF2	Mature miRNA region
EIF4A3	Mature miRNA region
ZC3H18	Mature miRNA region
ECT2	Mature miRNA region
ARHGDIA	Mature miRNA region
KLHL24	Mature miRNA region
ZC3H15	Mature miRNA region
EDEM1	Mature miRNA region
ZFAT	Mature miRNA region
POLH	Mature miRNA region
TTC28	Mature miRNA region
EZR	Mature miRNA region
TTF2	Mature miRNA region
LYPLA1	Mature miRNA region
SLAIN1	Mature miRNA region
GLO1	Mature miRNA region
ERO1L	Mature miRNA region
COMMD8	Mature miRNA region
CLIC1	Mature miRNA region
SNX16	Mature miRNA region
PPP1R12A	Mature miRNA region
TUBB1	Mature miRNA region
HMGCS1	Mature miRNA region
UBXN7	Mature miRNA region
KLHL23	Mature miRNA region
MOXD1	Mature miRNA region
PHF19	Mature miRNA region
MCM4	Mature miRNA region
TPRG1L	Mature miRNA region
ZMIZ1	Mature miRNA region
RALGDS	Mature miRNA region
PROK2	Mature miRNA region
XIAP	Mature miRNA region
CTDSPL	Mature miRNA region
PTPN11	Mature miRNA region
TSC22D3	Mature miRNA region
YTHDC2	Mature miRNA region
CCND2	Mature miRNA region
TNRC6B	Mature miRNA region
RC3H2	Mature miRNA region
SHISA2	Mature miRNA region
MTF2	Mature miRNA region
GUCD1	Mature miRNA region
RBM15B	Mature miRNA region
PRMT5	Mature miRNA region
BTRC	Mature miRNA region
TAOK1	Mature miRNA region
FOXO1	Mature miRNA region
PREB	Mature miRNA region
DAP	Mature miRNA region
WNK1	Mature miRNA region
TMEM108	Mature miRNA region
ARHGEF5	Mature miRNA region
KLHL15	Mature miRNA region
PIK3C2A	Mature miRNA region
RPLP0	Mature miRNA region
USP22	Mature miRNA region
REEP3	Mature miRNA region
GNB2L1	Mature miRNA region
CYB5D2	Mature miRNA region
JAZF1	Mature miRNA region
RPS29	Mature miRNA region
CBWD3	Mature miRNA region
IDH2	Mature miRNA region
TNRC18	Mature miRNA region
SYNGR2	Mature miRNA region
SRXN1	Mature miRNA region
ARHGAP21	Mature miRNA region
SRSF2	Mature miRNA region
HINT1	Mature miRNA region
WASH2P	Mature miRNA region
ASNS	Mature miRNA region
THAP9	Mature miRNA region
TUBA1B	Mature miRNA region
FOXO3	Mature miRNA region
TSR1	Mature miRNA region
PCOLCE2	Mature miRNA region
NEO1	Mature miRNA region
EIF4G1	Mature miRNA region
RBM12	Mature miRNA region
PPRC1	Mature miRNA region
CS	Mature miRNA region
NIPBL	Mature miRNA region
PLOD2	Mature miRNA region
RLF	Mature miRNA region
NAA30	Mature miRNA region
SENP1	Mature miRNA region
SMEK1	Mature miRNA region
C5orf24	Mature miRNA region
DOCK1	Mature miRNA region
AKAP12	Mature miRNA region
RELA	Mature miRNA region
NHSL2	Mature miRNA region
UBA1	Mature miRNA region
HTR1B	Mature miRNA region
UQCRC1	Mature miRNA region
SRSF10	Mature miRNA region
PRDM16	Mature miRNA region
POMP	Mature miRNA region
CEPT1	Mature miRNA region
SERTAD4	Mature miRNA region
PLEKHM1	Mature miRNA region
RIF1	Mature miRNA region
PTP4A2	Mature miRNA region
NHLRC3	Mature miRNA region
TERF2	Mature miRNA region
EGR1	Mature miRNA region
ATXN1	Mature miRNA region
EFNB2	Mature miRNA region
ADSS	Mature miRNA region
ZC3H4	Mature miRNA region
CNOT6	Mature miRNA region
CSNK2A1	Mature miRNA region
HNRNPDL	Mature miRNA region
PFN1	Mature miRNA region
SEC61A2	Mature miRNA region
HYOU1	Mature miRNA region
KIF2A	Mature miRNA region
MED1	Mature miRNA region
ETV3	Mature miRNA region
PEAK1	Mature miRNA region
PPP3R1	Mature miRNA region
OPN3	Mature miRNA region
RBM34	Mature miRNA region
ABCC10	Mature miRNA region
DTYMK	Mature miRNA region
FKBPL	Mature miRNA region
RPS3	Mature miRNA region
ZYX	Mature miRNA region
TMEM184C	Mature miRNA region
API5	Mature miRNA region
MYCBP2	Mature miRNA region
PDCD6	Mature miRNA region
NUB1	Mature miRNA region
PTPN9	Mature miRNA region
PHF14	Mature miRNA region
CYLD	Mature miRNA region
ITPR3	Mature miRNA region
CBX6	Mature miRNA region
ACTN4	Mature miRNA region
PMS2	Mature miRNA region
IGF1R	Mature miRNA region
MYBBP1A	Mature miRNA region
NKIRAS2	Mature miRNA region
ST13	Mature miRNA region
ADNP2	Mature miRNA region
ABHD17C	Mature miRNA region
DGAT1	Mature miRNA region
ARHGEF2	Mature miRNA region
NUFIP2	Mature miRNA region
FRS2	Mature miRNA region
SGK3	Mature miRNA region
HNRNPA1	Mature miRNA region
ITPKB	Mature miRNA region
BAG1	Mature miRNA region
CDON	Mature miRNA region
FLII	Mature miRNA region
C14orf1	Mature miRNA region
SERTAD2	Mature miRNA region
LAPTM4B	Mature miRNA region
LENG8	Mature miRNA region
GCC1	Mature miRNA region
SFSWAP	Mature miRNA region
PAPD5	Mature miRNA region
INSIG1	Mature miRNA region
FMNL3	Mature miRNA region
HSP90AA1	Mature miRNA region
FAT2	Mature miRNA region
FAM105B	Mature miRNA region
GNL3	Mature miRNA region
SMAD4	Mature miRNA region
PSMD13	Mature miRNA region
RARG	Mature miRNA region
ARHGAP32	Mature miRNA region
SNRPA1	Mature miRNA region
BTAF1	Mature miRNA region
FAM110B	Mature miRNA region
PDE8A	Mature miRNA region
BCL2	Mature miRNA region
ELAC2	Mature miRNA region
MKL1	Mature miRNA region
LSM14A	Mature miRNA region
LARS	Mature miRNA region
NIPA1	Mature miRNA region
MASTL	Mature miRNA region
TRAF4	Mature miRNA region
CCNB1	Mature miRNA region
CCND1	Mature miRNA region
KIF5C	Mature miRNA region
RPS4X	Mature miRNA region
OTUD4	Mature miRNA region
ACVR1B	Mature miRNA region
TRIM4	Mature miRNA region
GAPDH	Mature miRNA region
PGAM1	Mature miRNA region
SLC5A3	Mature miRNA region
BAG4	Mature miRNA region
CDKN1A	Mature miRNA region
CCT3	Mature miRNA region
ADCY6	Mature miRNA region
ZBTB34	Mature miRNA region
TIMELESS	Mature miRNA region
CGGBP1	Mature miRNA region
TMEM245	Mature miRNA region
TUT1	Mature miRNA region
C10orf2	Mature miRNA region
THOC2	Mature miRNA region
SLC31A1	Mature miRNA region
WDR53	Mature miRNA region
STK40	Mature miRNA region
SLC25A14	Mature miRNA region
ATP13A3	Mature miRNA region
ATP5O	Mature miRNA region
ITGA5	Mature miRNA region
ITGA8	Mature miRNA region
TXNIP	Mature miRNA region
IZUMO2	Mature miRNA region
ZFHX4	Mature miRNA region
TRIM28	Mature miRNA region
CREB1	Mature miRNA region
ITGB1	Mature miRNA region
CR1	Mature miRNA region
C15orf39	Mature miRNA region
TSPAN14	Mature miRNA region
RAB3IP	Mature miRNA region
PDCD4	Mature miRNA region
MITF	Mature miRNA region
AAMP	Mature miRNA region
CHML	Mature miRNA region
VPS51	Mature miRNA region
USP19	Mature miRNA region
PON2	Mature miRNA region
FEN1	Mature miRNA region
KIAA0430	Mature miRNA region
SNRPD3	Mature miRNA region
SNAI2	Mature miRNA region
HARS	Mature miRNA region
MSH2	Mature miRNA region
RPL5	Mature miRNA region
MTHFD2L	Mature miRNA region
TRIT1	Mature miRNA region
RCC2	Mature miRNA region
SPIN4	Mature miRNA region
KRAS	Mature miRNA region
KDELR1	Mature miRNA region
DYNC1H1	Mature miRNA region
LBR	Mature miRNA region
FAM188A	Mature miRNA region
HNRNPM	Mature miRNA region
KNTC1	Mature miRNA region
UBP1	Mature miRNA region

Extended variants
information (count: 1904 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1904 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1882095	chr7:129397644-129397645	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566300098	chr7:129397665-129397666	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs557796917	chr7:129397678-129397679	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs572972771	chr7:129397683-129397684	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs530047080	chr7:129397714-129397715	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs114660338	chr7:129397770-129397771	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs145885068	chr7:129397797-129397798	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs573973010	chr7:129397802-129397803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542289009	chr7:129397836-129397837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35246716	chr7:129397839-129397840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs56348532	chr7:129397841-129397842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201681370	chr7:129397844-129397845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs398067273	chr7:129397845-129397846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149012119	chr7:129397854-129397855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530901756	chr7:129398011-129398012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546003125	chr7:129398018-129398019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564558309	chr7:129398081-129398082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528690460	chr7:129398107-129398108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527832334	chr7:129398146-129398147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190678018	chr7:129398163-129398164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547594094	chr7:129398167-129398168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533193222	chr7:129398223-129398224	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs568464722	chr7:129398233-129398234	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs34338395	chr7:129398236-129398237	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs34354232	chr7:129398265-129398266	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs570175734	chr7:129398329-129398330	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs115875908	chr7:129398361-129398362	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs577305388	chr7:129398362-129398363	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs568773666	chr7:129398408-129398409	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs539166651	chr7:129398430-129398431	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs113166115	chr7:129398435-129398436	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs566520995	chr7:129398441-129398442	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs4731623	chr7:129398442-129398443	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs555597815	chr7:129398469-129398470	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs151038596	chr7:129398511-129398512	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs28480046	chr7:129398521-129398522	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs9649538	chr7:129398549-129398550	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs534751304	chr7:129398597-129398598	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs371308127	chr7:129398610-129398611	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs192513914	chr7:129398619-129398620	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs575553510	chr7:129398621-129398622	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs141270171	chr7:129398624-129398625	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs558006237	chr7:129398646-129398647	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs564466082	chr7:129398650-129398651	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs112641401	chr7:129398652-129398653	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs17161487	chr7:129398686-129398687	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs145080263	chr7:129398690-129398691	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs553151887	chr7:129398693-129398694	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs550881871	chr7:129398802-129398803	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs114499146	chr7:129398809-129398810	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Ovarian cancer	18458333	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1619 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129366800-129399400	Weak transcription	Fetal Kidney	kidney
2	chr7:129369600-129399400	Weak transcription	Fetal Brain Male	brain
3	chr7:129372200-129397800	Weak transcription	NH-A	brain
4	chr7:129372400-129398800	Weak transcription	NHLF	lung
5	chr7:129379800-129400400	Weak transcription	HSMM	muscle
6	chr7:129380000-129406600	Weak transcription	HSMMtube	muscle
7	chr7:129380800-129397800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr7:129381800-129404200	Weak transcription	HepG2	liver
9	chr7:129381800-129415600	Weak transcription	Pancreas	Pancrea
10	chr7:129382000-129398400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:129382400-129408600	Weak transcription	Right Atrium	heart
12	chr7:129382400-129408800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:129382600-129407000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:129382800-129411400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:129383400-129398400	Weak transcription	Brain Substantia Nigra	brain
16	chr7:129383800-129401000	Weak transcription	Osteobl	bone
17	chr7:129385400-129399200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr7:129387200-129398400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr7:129387600-129399200	Weak transcription	Fetal Lung	lung
20	chr7:129387800-129398200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:129388600-129399000	Strong transcription	Fetal Stomach	stomach
22	chr7:129391000-129398000	Weak transcription	GM12878-XiMat	blood
23	chr7:129392000-129400000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr7:129392200-129404000	Weak transcription	K562	blood
25	chr7:129392400-129404200	Weak transcription	NHEK	skin
26	chr7:129392400-129404400	Weak transcription	HMEC	breast
27	chr7:129393600-129398400	Strong transcription	Thymus	Thymus
28	chr7:129393800-129398000	Strong transcription	Fetal Intestine Small	intestine
29	chr7:129394400-129397800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:129394400-129397800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr7:129394400-129397800	Strong transcription	Duodenum Mucosa	Duodenum
32	chr7:129394400-129398200	Strong transcription	Primary T cells from cord blood	blood
33	chr7:129394600-129397800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:129394800-129397800	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr7:129394800-129397800	Strong transcription	Fetal Intestine Large	intestine
36	chr7:129394800-129397800	Strong transcription	Stomach Smooth Muscle	stomach
37	chr7:129394800-129398000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr7:129394800-129398200	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr7:129394800-129398200	Strong transcription	Brain Germinal Matrix	brain
40	chr7:129395000-129398400	Strong transcription	Fetal Muscle Trunk	muscle
41	chr7:129395200-129398200	Weak transcription	Colon Smooth Muscle	Colon
42	chr7:129395400-129397800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:129395400-129397800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:129395800-129398200	Weak transcription	Brain Angular Gyrus	brain
45	chr7:129396000-129413600	Weak transcription	A549	lung
46	chr7:129396200-129398400	Weak transcription	Small Intestine	intestine
47	chr7:129396200-129398600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:129396200-129398800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr7:129396200-129407000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:129396400-129398200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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