Variant report

Variant	rs10956911
Chromosome Location	chr8:95383875-95383876
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10095298	0.95[CHB][hapmap];0.86[CHD][hapmap]
rs10102233	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10102496	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10109060	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1011249	0.91[ASN][1000 genomes]
rs10112606	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10216902	1.00[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.82[TSI][hapmap];0.90[ASN][1000 genomes]
rs10464877	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10504936	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10956914	0.95[CHB][hapmap];0.86[CHD][hapmap]
rs12545262	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12674614	0.80[ASN][1000 genomes]
rs12675415	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12676373	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12679347	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12680029	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12680213	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12681366	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12681504	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12682038	0.94[CHB][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13280849	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13281619	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1372048	0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[TSI][hapmap]
rs1561648	1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs1598713	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16916760	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16916788	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];0.96[MEX][hapmap];0.88[MKK][hapmap];0.89[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16916796	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16916802	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1872889	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2043987	0.89[ASN][1000 genomes]
rs2046664	0.91[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap]
rs2197003	0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[TSI][hapmap]
rs2291439	0.84[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.85[LWK][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2381793	0.81[CEU][hapmap];0.95[CHB][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28413800	0.83[ASN][1000 genomes]
rs28641679	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2919660	0.90[ASN][1000 genomes]
rs2919662	1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs2919672	0.91[ASN][1000 genomes]
rs2919673	0.91[ASN][1000 genomes]
rs2921389	0.90[ASN][1000 genomes]
rs2930958	1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.81[LWK][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.88[YRI][hapmap];0.91[ASN][1000 genomes]
rs2930961	0.82[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.83[LWK][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2930962	0.91[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs2930964	0.82[CEU][hapmap];0.95[CHB][hapmap]
rs2930968	1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs2930970	0.90[ASN][1000 genomes]
rs2930971	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2931632	0.82[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.89[TSI][hapmap]
rs2931633	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2960122	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3019146	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.92[ASN][1000 genomes]
rs3019148	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3019149	0.82[CEU][hapmap];0.95[CHB][hapmap]
rs3019154	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs3019278	0.82[CEU][hapmap];0.95[CHB][hapmap]
rs3019279	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs3019280	0.82[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[TSI][hapmap]
rs3019281	0.82[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[TSI][hapmap]
rs35889192	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4735288	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4735291	0.81[ASN][1000 genomes]
rs4735292	1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs4735294	0.89[GIH][hapmap]
rs56285115	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs58826082	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66787185	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67639046	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67808321	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980687	1.00[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.89[ASN][1000 genomes]
rs6991077	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6997115	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs716770	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs72672679	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7824722	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7825731	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7831073	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[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	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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95363000-95385200	Weak transcription	Primary T cells from cord blood	blood
2	chr8:95365800-95385000	Weak transcription	NHEK	skin
3	chr8:95365800-95417200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:95370000-95385000	Weak transcription	NHLF	lung
5	chr8:95370000-95385200	Weak transcription	HSMM	muscle
6	chr8:95370000-95385200	Weak transcription	HUVEC	blood vessel
7	chr8:95370200-95384800	Weak transcription	HMEC	breast
8	chr8:95370600-95385400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:95372000-95414000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:95372400-95384400	Weak transcription	NHDF-Ad	bronchial
11	chr8:95372400-95385000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:95372800-95384400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:95372800-95384800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:95372800-95385200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:95372800-95391200	Weak transcription	HepG2	liver
16	chr8:95373800-95385600	Weak transcription	Fetal Kidney	kidney
17	chr8:95373800-95391600	Weak transcription	Fetal Lung	lung
18	chr8:95374000-95390400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:95374000-95391000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr8:95374400-95390400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr8:95374600-95385000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:95374600-95392200	Weak transcription	Fetal Intestine Large	intestine
23	chr8:95374800-95391400	Weak transcription	Fetal Intestine Small	intestine
24	chr8:95375000-95389400	Weak transcription	Fetal Thymus	thymus
25	chr8:95376400-95387400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:95376600-95385200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:95377600-95390800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr8:95377800-95391000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:95377800-95412000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:95378000-95391400	Weak transcription	Thymus	Thymus
31	chr8:95378200-95391400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr8:95378200-95403200	Weak transcription	Brain Angular Gyrus	brain
33	chr8:95378200-95417200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:95378400-95391000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr8:95378400-95391200	Weak transcription	Fetal Muscle Leg	muscle
36	chr8:95378800-95390400	Weak transcription	Brain Substantia Nigra	brain
37	chr8:95379000-95385000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:95379200-95385200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:95379200-95391400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr8:95379200-95403600	Weak transcription	Brain Anterior Caudate	brain
41	chr8:95379400-95385200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:95379400-95407000	Weak transcription	Fetal Stomach	stomach
43	chr8:95379400-95413200	Weak transcription	Fetal Brain Male	brain
44	chr8:95379600-95390800	Weak transcription	Fetal Brain Female	brain
45	chr8:95379800-95385200	Weak transcription	NH-A	brain
46	chr8:95379800-95385400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr8:95380200-95389200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr8:95380200-95391400	Weak transcription	Brain Germinal Matrix	brain
49	chr8:95380200-95409400	Weak transcription	HSMMtube	muscle
50	chr8:95380400-95385000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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