Variant report

Variant	rs2931632
Chromosome Location	chr8:95418788-95418789
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95417346..95419224-chr8:95485607..95488602,3	MCF-7	breast:
2	chr8:95414969..95418997-chr8:95420056..95423397,3	MCF-7	breast:
3	chr8:95418214..95419976-chr8:95420617..95423337,2	MCF-7	breast:
4	chr8:95416299..95420056-chr8:95426650..95429776,4	MCF-7	breast:
5	chr8:95417917..95420119-chr8:95429858..95434384,4	MCF-7	breast:
6	chr8:95416902..95420860-chr8:95447740..95452080,6	MCF-7	breast:
7	chr8:95404871..95406840-chr8:95417752..95419345,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265817	Chromatin interaction
ENSG00000197275	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10087254	0.96[ASN][1000 genomes]
rs10087503	0.96[ASN][1000 genomes]
rs10095298	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.96[ASN][1000 genomes]
rs10102233	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs1011249	0.84[ASN][1000 genomes]
rs10216902	0.95[CHB][hapmap];0.89[CHD][hapmap];0.81[TSI][hapmap];0.83[ASN][1000 genomes]
rs10464877	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10504936	0.95[CHB][hapmap]
rs10808669	0.96[ASN][1000 genomes]
rs10956913	0.96[ASN][1000 genomes]
rs10956914	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.96[ASN][1000 genomes]
rs12375355	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12545262	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs12549544	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12674614	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12675415	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12676373	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12680029	0.81[ASN][1000 genomes]
rs12681366	0.91[CEU][hapmap];0.95[CHB][hapmap];0.90[EUR][1000 genomes]
rs12681504	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12682038	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12682524	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13280849	0.95[CHB][hapmap]
rs13281619	0.95[CHB][hapmap]
rs1372048	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1561648	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs1598713	0.95[CHB][hapmap]
rs16916760	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16916788	0.95[CHB][hapmap];0.89[CHD][hapmap];0.83[TSI][hapmap]
rs16916802	0.95[CHB][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1872889	0.95[CHB][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2011246	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2043987	0.82[ASN][1000 genomes]
rs2043988	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2046664	0.86[CHB][hapmap]
rs2165405	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2171440	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2197003	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2197004	0.96[ASN][1000 genomes]
rs2291439	1.00[CHB][hapmap];0.91[CHD][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2381793	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2381886	0.96[ASN][1000 genomes]
rs28641679	0.81[ASN][1000 genomes]
rs2919655	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2919656	0.96[ASN][1000 genomes]
rs2919657	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2919658	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2919659	0.96[ASN][1000 genomes]
rs2919660	0.83[ASN][1000 genomes]
rs2919662	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs2919664	0.96[ASN][1000 genomes]
rs2919667	0.96[ASN][1000 genomes]
rs2919668	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2919670	0.96[ASN][1000 genomes]
rs2919672	0.84[ASN][1000 genomes]
rs2919673	0.84[ASN][1000 genomes]
rs2921386	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2921389	0.83[ASN][1000 genomes]
rs2930956	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2930958	0.95[CHB][hapmap];0.91[CHD][hapmap];0.81[TSI][hapmap];0.84[ASN][1000 genomes]
rs2930961	0.91[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2930962	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs2930963	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2930964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2930968	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs2930970	0.83[ASN][1000 genomes]
rs2930971	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2931631	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2931633	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2960121	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2960122	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3019145	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3019146	0.95[CHB][hapmap];0.91[CHD][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3019147	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019149	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];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019150	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3019154	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs3019155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019277	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3019278	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3019279	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs3019280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3019281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3019282	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3019284	0.96[ASN][1000 genomes]
rs35918414	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735288	0.95[CHB][hapmap]
rs4735291	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735292	0.95[CHB][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4735293	0.80[EUR][1000 genomes]
rs55963151	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6980687	0.95[CHB][hapmap];0.89[CHD][hapmap];0.83[TSI][hapmap];0.82[ASN][1000 genomes]
rs6999103	0.96[ASN][1000 genomes]
rs6999976	0.96[ASN][1000 genomes]
rs72672679	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72674819	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs752460	0.95[CEU][hapmap];1.00[YRI][hapmap]
rs9297939	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	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
2	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
3	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
4	nsv1031480	chr8:95375696-95447407	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95386000-95421400	Weak transcription	Psoas Muscle	Psoas
2	chr8:95386000-95429200	Weak transcription	NHDF-Ad	bronchial
3	chr8:95392200-95419000	Weak transcription	Thymus	Thymus
4	chr8:95392200-95421000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:95392200-95430200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:95392600-95424800	Weak transcription	Hela-S3	cervix
7	chr8:95393200-95447000	Weak transcription	K562	blood
8	chr8:95400200-95420200	Weak transcription	Stomach Mucosa	stomach
9	chr8:95400400-95419600	Weak transcription	Fetal Intestine Small	intestine
10	chr8:95401400-95419400	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:95404200-95429600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:95404400-95419800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:95404600-95424400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:95407800-95418800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:95408600-95429000	Weak transcription	HMEC	breast
16	chr8:95409400-95421600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr8:95409400-95443000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:95410600-95419200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:95412000-95419600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:95412200-95447200	Weak transcription	Fetal Thymus	thymus
21	chr8:95412400-95430000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:95413000-95421000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr8:95416200-95419600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:95416200-95429400	Weak transcription	HSMM	muscle
25	chr8:95416600-95421600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:95416800-95445200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr8:95417000-95419200	Flanking Active TSS	A549	lung
28	chr8:95417000-95422200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr8:95417000-95422400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:95417200-95419200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:95417200-95419600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:95417200-95428800	Weak transcription	Dnd41	blood
33	chr8:95417400-95421400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:95417800-95419000	Flanking Active TSS	HepG2	liver
35	chr8:95418000-95419200	Enhancers	Osteobl	bone
36	chr8:95418000-95420200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:95418000-95420400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:95418000-95424200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:95418400-95418800	Enhancers	Placenta Amnion	Placenta Amnion
40	chr8:95418400-95418800	Enhancers	Small Intestine	intestine
41	chr8:95418400-95418800	Weak transcription	GM12878-XiMat	blood
42	chr8:95418400-95419000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr8:95418600-95418800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:95418600-95418800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:95418600-95420800	Enhancers	Primary T cells from cord blood	blood

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