Variant report

Variant	rs6997115
Chromosome Location	chr8:95365885-95365886
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95365546..95367496-chr8:95371194..95372860,2	MCF-7	breast:

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10093726	0.82[AFR][1000 genomes]
rs10095298	0.95[CHB][hapmap];0.86[TSI][hapmap]
rs10097262	0.84[AFR][1000 genomes]
rs10102233	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10102496	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10109060	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1011249	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10112606	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10216902	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.88[TSI][hapmap];0.86[ASN][1000 genomes]
rs10504936	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10956911	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10956914	0.95[CHB][hapmap];0.86[TSI][hapmap]
rs12545262	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12675415	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12676373	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12679347	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12680029	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12680213	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12681366	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12682038	0.94[CHB][hapmap]
rs13280849	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13281619	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1372048	0.95[CHB][hapmap]
rs1379246	0.86[EUR][1000 genomes]
rs1561648	0.84[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs1598713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16916760	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16916788	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16916796	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16916802	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17736364	0.82[AFR][1000 genomes]
rs1813167	0.82[EUR][1000 genomes]
rs1872889	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2043987	0.85[ASN][1000 genomes]
rs2046663	0.91[ASW][hapmap];0.84[YRI][hapmap]
rs2046664	0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs2046666	0.81[TSI][hapmap]
rs2197003	0.95[CHB][hapmap]
rs2246066	0.82[CEU][hapmap]
rs2291439	1.00[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2381793	0.95[CHB][hapmap]
rs2381828	0.82[YRI][hapmap]
rs2445699	0.82[EUR][1000 genomes]
rs2450554	0.82[EUR][1000 genomes]
rs2450578	0.85[EUR][1000 genomes]
rs2450580	0.88[CEU][hapmap]
rs2470718	0.86[EUR][1000 genomes]
rs2470728	0.86[EUR][1000 genomes]
rs2470731	0.86[EUR][1000 genomes]
rs2470732	0.83[EUR][1000 genomes]
rs2515098	0.85[EUR][1000 genomes]
rs2515099	0.83[EUR][1000 genomes]
rs2515100	0.88[CEU][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs2515153	0.83[TSI][hapmap]
rs2515156	0.85[EUR][1000 genomes]
rs2515157	0.85[EUR][1000 genomes]
rs2515161	0.86[EUR][1000 genomes]
rs2515165	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs28413800	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28641679	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2919660	0.86[ASN][1000 genomes]
rs2919662	0.84[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs2919672	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2919673	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2921389	0.86[ASN][1000 genomes]
rs2930958	0.92[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2930961	1.00[CHB][hapmap];0.88[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.88[YRI][hapmap];0.87[ASN][1000 genomes]
rs2930962	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs2930964	0.95[CHB][hapmap]
rs2930968	0.84[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs2930970	0.86[ASN][1000 genomes]
rs2930971	0.87[ASN][1000 genomes]
rs2931632	0.95[CHB][hapmap];0.82[TSI][hapmap]
rs2931633	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2960122	0.87[ASN][1000 genomes]
rs3019146	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3019148	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3019149	0.95[CHB][hapmap]
rs3019154	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs3019278	0.95[CHB][hapmap]
rs3019279	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs3019280	0.95[CHB][hapmap]
rs3019281	0.95[CHB][hapmap]
rs35889192	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4735284	0.82[AFR][1000 genomes]
rs4735288	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735292	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4735294	0.84[CEU][hapmap];0.93[GIH][hapmap];0.82[TSI][hapmap]
rs56285115	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58826082	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66787185	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67639046	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67808321	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6980687	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.85[ASN][1000 genomes]
rs6991077	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs716770	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72672679	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73270106	0.87[AFR][1000 genomes]
rs7824722	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7825731	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7831073	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831401	chr8:95218297-95393968	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv971683	chr8:95364853-95368851	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95363000-95385200	Weak transcription	Primary T cells from cord blood	blood
2	chr8:95364200-95369000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:95364200-95369400	Weak transcription	NHDF-Ad	bronchial
4	chr8:95364800-95366000	Enhancers	Fetal Intestine Large	intestine
5	chr8:95364800-95366000	Enhancers	Fetal Intestine Small	intestine
6	chr8:95365000-95366000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:95365200-95366000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr8:95365600-95366000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:95365600-95366000	Enhancers	A549	lung
10	chr8:95365800-95368800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:95365800-95369200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:95365800-95369200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:95365800-95369200	Weak transcription	HMEC	breast
14	chr8:95365800-95369600	Weak transcription	NH-A	brain
15	chr8:95365800-95378800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:95365800-95385000	Weak transcription	NHEK	skin
17	chr8:95365800-95417200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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