Variant report

Variant	rs10956914
Chromosome Location	chr8:95483723-95483724
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95480366..95484457-chr8:95485743..95490293,5	MCF-7	breast:
2	chr8:95481575..95483746-chr8:95485773..95488410,3	K562	blood:

Variant related genes	Relation type
ENSG00000197275	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10087254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10087503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095298	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10102233	0.89[CEU][hapmap];0.95[CHB][hapmap];0.80[EUR][1000 genomes]
rs10102496	0.81[EUR][1000 genomes]
rs1011249	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10112606	0.81[EUR][1000 genomes]
rs10216902	0.92[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.89[TSI][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10464877	0.92[ASN][1000 genomes]
rs10504936	0.89[CEU][hapmap];0.95[CHB][hapmap];0.81[EUR][1000 genomes]
rs10808669	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10956913	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12375355	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12545262	0.89[CEU][hapmap];0.95[CHB][hapmap];0.81[EUR][1000 genomes]
rs12549544	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12674614	0.95[ASN][1000 genomes]
rs12675415	0.89[ASN][1000 genomes]
rs12676373	0.84[ASN][1000 genomes]
rs12679347	0.81[EUR][1000 genomes]
rs12680029	0.80[EUR][1000 genomes]
rs12680213	0.81[EUR][1000 genomes]
rs12681366	0.95[CHB][hapmap]
rs12681504	0.93[ASN][1000 genomes]
rs12682038	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs12682524	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13280849	0.88[CEU][hapmap];0.95[CHB][hapmap];0.81[EUR][1000 genomes]
rs13281619	0.89[CEU][hapmap];0.95[CHB][hapmap];0.81[EUR][1000 genomes]
rs1372048	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1561648	0.92[CEU][hapmap];0.95[CHB][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1598713	0.95[CHB][hapmap]
rs16916760	0.85[ASN][1000 genomes]
rs16916788	0.88[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs16916802	0.89[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1872889	0.89[CEU][hapmap];0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs2011246	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2028428	0.89[EUR][1000 genomes]
rs2043987	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2043988	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2046664	0.86[CHB][hapmap]
rs2165405	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2171440	0.97[ASN][1000 genomes]
rs2197003	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2197004	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2291439	0.84[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2381793	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs2381886	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2470739	0.81[CEU][hapmap]
rs2515153	0.81[CEU][hapmap]
rs28641679	0.81[EUR][1000 genomes]
rs2919654	0.82[CEU][hapmap]
rs2919655	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2919656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2919657	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2919658	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2919659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2919660	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2919662	0.92[CEU][hapmap];0.95[CHB][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2919664	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2919667	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2919668	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2919670	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2919672	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2919673	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2921385	0.81[CEU][hapmap]
rs2921386	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2921389	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2930956	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2930958	0.88[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2930961	0.95[CHB][hapmap];0.91[CHD][hapmap];0.81[TSI][hapmap];0.84[ASN][1000 genomes]
rs2930962	0.92[CEU][hapmap];0.87[CHB][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2930963	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2930964	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2930967	0.81[CEU][hapmap]
rs2930968	0.92[CEU][hapmap];0.95[CHB][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2930970	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2930971	0.84[ASN][1000 genomes]
rs2931631	0.97[ASN][1000 genomes]
rs2931632	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]
rs2931633	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2960121	0.97[ASN][1000 genomes]
rs2960122	0.84[ASN][1000 genomes]
rs3019145	0.92[ASN][1000 genomes]
rs3019146	0.88[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3019147	0.97[ASN][1000 genomes]
rs3019148	0.82[EUR][1000 genomes]
rs3019149	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3019150	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3019154	0.89[CEU][hapmap];0.95[CHB][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3019155	0.97[ASN][1000 genomes]
rs3019156	0.97[ASN][1000 genomes]
rs3019277	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3019278	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3019279	0.89[CEU][hapmap];0.95[CHB][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3019280	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3019281	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3019282	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3019284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3099398	0.81[CEU][hapmap]
rs3099401	0.80[EUR][1000 genomes]
rs35918414	0.88[ASN][1000 genomes]
rs4735288	0.95[CHB][hapmap]
rs4735291	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4735292	0.89[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4735293	0.82[EUR][1000 genomes]
rs4735294	0.92[CEU][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs55963151	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56285115	0.80[EUR][1000 genomes]
rs6980687	0.92[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.86[TSI][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6999103	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6999976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs716770	0.81[EUR][1000 genomes]
rs72672679	0.89[ASN][1000 genomes]
rs72674819	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs752460	0.81[EUR][1000 genomes]
rs9297939	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs935052	0.81[CEU][hapmap]

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	esv1835971	chr8:95467241-95490541	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95449400-95485200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr8:95449400-95486200	Weak transcription	Fetal Muscle Leg	muscle
3	chr8:95450000-95486000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:95450600-95484800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:95454000-95485600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:95454200-95485400	Weak transcription	Fetal Intestine Small	intestine
7	chr8:95455400-95485000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:95455600-95486200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:95460000-95485000	Weak transcription	HepG2	liver
10	chr8:95462000-95486400	Weak transcription	Primary B cells from cord blood	blood
11	chr8:95464400-95485800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr8:95468000-95485200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr8:95468600-95485800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:95468800-95484800	Weak transcription	Fetal Lung	lung
15	chr8:95469000-95485600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:95469000-95486000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:95470600-95485800	Weak transcription	Fetal Thymus	thymus
18	chr8:95472400-95486400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr8:95472800-95486600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:95474800-95486200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr8:95475200-95486800	Weak transcription	Gastric	stomach
22	chr8:95475800-95486800	Weak transcription	Aorta	Aorta
23	chr8:95476200-95486200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr8:95477200-95484800	Weak transcription	Hela-S3	cervix
25	chr8:95477200-95485600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:95478800-95486200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr8:95479400-95486000	Weak transcription	Fetal Stomach	stomach
28	chr8:95479400-95486000	Weak transcription	Thymus	Thymus
29	chr8:95479600-95485200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr8:95480000-95484600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:95480000-95484800	Weak transcription	A549	lung
32	chr8:95480000-95485400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:95480000-95485400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr8:95480000-95486200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr8:95480200-95485000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:95480200-95485200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr8:95480400-95485600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr8:95480600-95484200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:95480600-95484400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:95480600-95484400	Weak transcription	Dnd41	blood
41	chr8:95480600-95485200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr8:95480600-95485200	Weak transcription	HSMM	muscle
43	chr8:95480600-95485400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr8:95480600-95485400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr8:95480600-95485600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr8:95480600-95485600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr8:95480600-95485600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:95480600-95485600	Weak transcription	Primary T cells from cord blood	blood
49	chr8:95480800-95484800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr8:95480800-95484800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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