Variant report

Variant	rs7386996
Chromosome Location	chr8:62288827-62288828
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr8:62288581-62288904	MCF10A-Er-Src	breast:	n/a	chr8:62288759-62288768 chr8:62288758-62288767
2	CEBPB	chr8:62288698-62288846	HepG2	liver:	n/a	chr8:62288791-62288802
3	FOSL2	chr8:62288507-62288992	A549	lung:	n/a	chr8:62288692-62288701
4	CEBPB	chr8:62288506-62289038	A549	lung:	n/a	chr8:62288791-62288802
5	CEBPB	chr8:62288649-62288897	K562	blood:	n/a	chr8:62288791-62288802
6	CEBPB	chr8:62288628-62288984	IMR90	lung:	n/a	chr8:62288791-62288802
7	STAT3	chr8:62288487-62288919	MCF10A-Er-Src	breast:	n/a	chr8:62288759-62288768 chr8:62288758-62288767
8	FOS	chr8:62288460-62288932	MCF10A-Er-Src	breast:	n/a	chr8:62288692-62288701
9	CEBPB	chr8:62288614-62288916	H1-hESC	embryonic stem cell:	n/a	chr8:62288791-62288802
10	MYC	chr8:62288653-62288906	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr8:62288248-62288954	MCF10A-Er-Src	breast:	n/a	chr8:62288692-62288701
12	ARID3A	chr8:62288552-62288923	HepG2	liver:	n/a	n/a
13	STAT3	chr8:62288358-62288983	MCF10A-Er-Src	breast:	n/a	chr8:62288759-62288768 chr8:62288758-62288767
14	SMC3	chr8:62288712-62288890	HepG2	liver:	n/a	n/a
15	MYC	chr8:62288531-62288890	MCF10A-Er-Src	breast:	n/a	n/a
16	CEBPB	chr8:62288613-62288985	A549	lung:	n/a	chr8:62288791-62288802
17	CEBPB	chr8:62288637-62288961	HepG2	liver:	n/a	chr8:62288791-62288802
18	CEBPB	chr8:62288575-62288943	A549	lung:	n/a	chr8:62288791-62288802
19	FOS	chr8:62288483-62288956	MCF10A-Er-Src	breast:	n/a	chr8:62288692-62288701
20	CEBPB	chr8:62288562-62288925	MCF-7	breast:	n/a	chr8:62288791-62288802
21	CEBPB	chr8:62288580-62289004	MCF-7	breast:	n/a	chr8:62288791-62288802
22	CEBPB	chr8:62288608-62288989	HepG2	liver:	n/a	chr8:62288791-62288802
23	JUND	chr8:62288705-62288848	HepG2	liver:	n/a	n/a
24	CEBPB	chr8:62288655-62288922	Hela-S3	cervix:	n/a	chr8:62288791-62288802
25	FOS	chr8:62288455-62288952	MCF10A-Er-Src	breast:	n/a	chr8:62288692-62288701

Variant related genes	Relation type
CLVS1	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10093364	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10094365	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs10098539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10098755	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10098885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10099169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10100364	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs10111649	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10111651	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10112069	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10957192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12546667	0.82[ASN][1000 genomes]
rs12675558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12676622	1.00[ASN][1000 genomes]
rs12679865	0.98[ASN][1000 genomes]
rs1371741	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs1371744	0.84[CHB][hapmap]
rs16927201	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16927234	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16927237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16927280	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16927283	0.90[CEU][hapmap]
rs16927291	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16927299	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17775880	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1822032	0.81[CEU][hapmap];0.83[CHB][hapmap];1.00[YRI][hapmap]
rs1873888	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1992331	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1992332	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1992333	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2201261	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2220766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2610519	0.95[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs28419747	0.98[ASN][1000 genomes]
rs28477525	0.98[ASN][1000 genomes]
rs28533992	0.98[ASN][1000 genomes]
rs28886409	0.98[ASN][1000 genomes]
rs3864676	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs4147444	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4147445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4147446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4395891	0.98[ASN][1000 genomes]
rs4737584	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4737585	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737586	0.92[ASN][1000 genomes]
rs4738885	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[ASN][1000 genomes]
rs4738886	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4738887	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4738888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4738889	0.93[ASN][1000 genomes]
rs56079904	0.98[ASN][1000 genomes]
rs56161034	0.98[ASN][1000 genomes]
rs59241236	0.98[ASN][1000 genomes]
rs62524926	0.97[ASN][1000 genomes]
rs6471947	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6471949	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6983659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6987161	0.90[ASN][1000 genomes]
rs6994385	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6994804	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs6998442	0.98[ASN][1000 genomes]
rs7012230	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72657057	0.98[ASN][1000 genomes]
rs7820685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7836228	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv831336	chr8:62188396-62364873	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1029046	chr8:62224341-62535277	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62270800-62290200	Weak transcription	Fetal Brain Female	brain
2	chr8:62288000-62289200	Enhancers	Adipose Nuclei	Adipose
3	chr8:62288200-62289200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:62288800-62289200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:62288800-62289200	Enhancers	Gastric	stomach

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