Variant report

Variant	rs6998116
Chromosome Location	chr8:125159921-125159922
allele	C/T
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	JUND	chr8:125159902-125160228	K562	blood:	n/a	chr8:125160033-125160040 chr8:125160032-125160042 chr8:125160031-125160042 chr8:125160032-125160042 chr8:125160031-125160043 chr8:125160033-125160042 chr8:125160032-125160041
2	RAD21	chr8:125159878-125160634	MCF-7	breast:	n/a	n/a
3	GATA3	chr8:125159165-125160832	MCF-7	breast:	n/a	chr8:125160134-125160141 chr8:125160134-125160141 chr8:125160133-125160143 chr8:125160134-125160141
4	FOS	chr8:125159851-125160473	HUVEC	blood vessel:	n/a	chr8:125160033-125160040 chr8:125160032-125160042 chr8:125160032-125160042 chr8:125160031-125160043 chr8:125160321-125160331 chr8:125160031-125160042 chr8:125160321-125160331 chr8:125160033-125160042 chr8:125160032-125160041 chr8:125160321-125160330 chr8:125160323-125160330
5	GATA3	chr8:125159159-125160733	MCF-7	breast:	n/a	chr8:125160134-125160141 chr8:125160134-125160141 chr8:125160133-125160143 chr8:125160134-125160141
6	FOSL2	chr8:125159678-125160640	A549	lung:	n/a	chr8:125160033-125160040 chr8:125160032-125160042 chr8:125160032-125160042 chr8:125160031-125160043 chr8:125160321-125160331 chr8:125160321-125160331 chr8:125160033-125160042 chr8:125160032-125160041 chr8:125160321-125160330 chr8:125160323-125160330
7	JUND	chr8:125159857-125160459	Hela-S3	cervix:	n/a	chr8:125160033-125160040 chr8:125160032-125160042 chr8:125160031-125160042 chr8:125160032-125160042 chr8:125160031-125160043 chr8:125160321-125160331 chr8:125160321-125160331 chr8:125160033-125160042 chr8:125160032-125160041 chr8:125160321-125160330 chr8:125160323-125160330
8	FOS	chr8:125159862-125160466	MCF10A-Er-Src	breast:	n/a	chr8:125160033-125160040 chr8:125160032-125160042 chr8:125160032-125160042 chr8:125160031-125160043 chr8:125160321-125160331 chr8:125160031-125160042 chr8:125160321-125160331 chr8:125160033-125160042 chr8:125160032-125160041 chr8:125160321-125160330 chr8:125160323-125160330
9	FOS	chr8:125159860-125160488	MCF10A-Er-Src	breast:	n/a	chr8:125160033-125160040 chr8:125160032-125160042 chr8:125160032-125160042 chr8:125160031-125160043 chr8:125160321-125160331 chr8:125160031-125160042 chr8:125160321-125160331 chr8:125160033-125160042 chr8:125160032-125160041 chr8:125160321-125160330 chr8:125160323-125160330
10	JUN	chr8:125159885-125160506	HUVEC	blood vessel:	n/a	chr8:125160033-125160040 chr8:125160032-125160042 chr8:125160032-125160042 chr8:125160031-125160043 chr8:125160321-125160331 chr8:125160321-125160331 chr8:125160033-125160042 chr8:125160032-125160041 chr8:125160321-125160330 chr8:125160323-125160330
11	FOS	chr8:125159860-125160493	MCF10A-Er-Src	breast:	n/a	chr8:125160033-125160040 chr8:125160032-125160042 chr8:125160032-125160042 chr8:125160031-125160043 chr8:125160321-125160331 chr8:125160031-125160042 chr8:125160321-125160331 chr8:125160033-125160042 chr8:125160032-125160041 chr8:125160321-125160330 chr8:125160323-125160330
12	FOSL2	chr8:125159860-125160459	A549	lung:	n/a	chr8:125160033-125160040 chr8:125160032-125160042 chr8:125160032-125160042 chr8:125160031-125160043 chr8:125160321-125160331 chr8:125160321-125160331 chr8:125160033-125160042 chr8:125160032-125160041 chr8:125160321-125160330 chr8:125160323-125160330
13	SP1	chr8:125159836-125160597	A549	lung:	n/a	n/a
14	FOS	chr8:125159860-125160499	MCF10A-Er-Src	breast:	n/a	chr8:125160033-125160040 chr8:125160032-125160042 chr8:125160032-125160042 chr8:125160031-125160043 chr8:125160321-125160331 chr8:125160031-125160042 chr8:125160321-125160331 chr8:125160033-125160042 chr8:125160032-125160041 chr8:125160321-125160330 chr8:125160323-125160330
15	FOSL2	chr8:125159613-125160637	MCF-7	breast:	n/a	chr8:125160033-125160040 chr8:125160032-125160042 chr8:125160032-125160042 chr8:125160031-125160043 chr8:125160321-125160331 chr8:125160321-125160331 chr8:125160033-125160042 chr8:125160032-125160041 chr8:125160321-125160330 chr8:125160323-125160330
16	SIN3AK20	chr8:125159080-125160758	MCF-7	breast:	n/a	n/a
17	FOSL2	chr8:125159757-125160330	SK-N-SH	brain:	n/a	chr8:125160033-125160040 chr8:125160032-125160042 chr8:125160032-125160042 chr8:125160031-125160043 chr8:125160033-125160042 chr8:125160032-125160041 chr8:125160321-125160330 chr8:125160323-125160330

No.	Distal block	Cell Line	Cell type
1	chr8:125152608..125156018-chr8:125157975..125161027,5	MCF-7	breast:
2	chr8:125159144..125163463-chr8:125165911..125169919,5	MCF-7	breast:
3	chr8:125157060..125160347-chr8:125160363..125164460,3	K562	blood:
4	chr8:125159111..125160686-chr8:125174185..125175768,2	K562	blood:
5	chr8:125150444..125155407-chr8:125156319..125163241,13	MCF-7	breast:
6	chr8:125149183..125152556-chr8:125157722..125161369,5	MCF-7	breast:
7	chr8:125158434..125162428-chr8:125172218..125174995,4	MCF-7	breast:
8	chr8:125159053..125161561-chr8:125486350..125489131,2	K562	blood:

Variant related genes	Relation type
ARF1P3	TF binding region
ENSG00000245149	Chromatin interaction
ENSG00000250727	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000253885	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10086895	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10091796	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs10097532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10102628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10103694	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10112410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956166	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11775425	0.81[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs11776314	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs11777798	0.83[ASN][1000 genomes]
rs11778782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11783434	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs11784216	0.82[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs12550345	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12550369	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13251319	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13251598	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13252427	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13257056	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13258556	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13278430	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13282986	0.83[ASN][1000 genomes]
rs4242354	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4242355	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4242356	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4242357	0.81[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs4242358	0.83[ASN][1000 genomes]
rs4242359	0.82[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs4265167	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4338088	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4363179	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4380915	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4388445	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs4389915	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4413755	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4413756	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4415293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4431575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4431576	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4434603	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4437631	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4454257	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4455808	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4574828	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4574829	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4581038	0.82[ASN][1000 genomes]
rs4613979	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4870890	0.82[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4870891	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs4871463	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4871464	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871465	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6470223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6470224	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6470225	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6983946	0.83[ASN][1000 genomes]
rs6984544	0.81[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs6984987	0.81[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs6985304	0.82[ASN][1000 genomes]
rs6986145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988185	0.81[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs6991000	0.81[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs6998145	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999726	0.83[ASN][1000 genomes]
rs7000177	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs7004059	0.86[CHB][hapmap]
rs7005079	0.82[ASN][1000 genomes]
rs7006141	0.83[ASN][1000 genomes]
rs7008971	0.81[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap]
rs7010103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7010277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7011521	0.86[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs7014933	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7015097	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7015444	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7016383	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs7017959	0.83[ASN][1000 genomes]
rs7818609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7819890	0.81[CEU][hapmap];0.86[CHB][hapmap]
rs7826680	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7833371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834687	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs7837991	0.81[CEU][hapmap];0.86[CHB][hapmap]
rs7839182	0.81[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs7840464	0.83[ASN][1000 genomes]
rs9297686	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612144	chr8:125057728-125206503	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1023183	chr8:125060532-125206445	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv948556	chr8:125067187-125204721	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv831452	chr8:125099708-125259926	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125150400-125165600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:125151200-125160000	Weak transcription	Fetal Intestine Small	intestine
3	chr8:125154200-125165600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:125158000-125160000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:125158200-125165800	Weak transcription	Spleen	Spleen
6	chr8:125159000-125160400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:125159000-125160600	Enhancers	HMEC	breast
8	chr8:125159000-125160800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:125159000-125160800	Enhancers	NHEK	skin
10	chr8:125159200-125160000	Enhancers	Osteobl	bone
11	chr8:125159200-125160200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:125159200-125160400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:125159200-125160400	Enhancers	NH-A	brain
14	chr8:125159200-125160800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:125159400-125160000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr8:125159400-125160400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:125159400-125160400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:125159400-125160400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:125159400-125160600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr8:125159400-125160600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:125159400-125160600	Enhancers	Fetal Lung	lung
22	chr8:125159400-125160600	Flanking Active TSS	A549	lung
23	chr8:125159400-125160600	Enhancers	Hela-S3	cervix
24	chr8:125159600-125160600	Enhancers	HUVEC	blood vessel
25	chr8:125159800-125160200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr8:125159800-125160400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:125159800-125160400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr8:125159800-125160600	Enhancers	Fetal Intestine Large	intestine

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