Variant report

Variant	rs11995234
Chromosome Location	chr8:61634144-61634145
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	chr8:61630639..61633398-chr8:61633883..61636594,3	MCF-7	breast:

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10093135	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10103011	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10109193	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1038351	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1038352	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10448027	0.90[EUR][1000 genomes]
rs10808711	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808712	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10808713	0.94[CEU][hapmap];0.89[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10957154	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10957155	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10957156	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957158	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10957161	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11985638	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11986742	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11988338	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11990117	0.86[ASN][1000 genomes]
rs11990495	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11991467	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11992809	1.00[ASW][hapmap];0.94[CEU][hapmap];0.89[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11993480	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11993490	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11993896	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11997122	0.86[ASN][1000 genomes]
rs12544305	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.84[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12681737	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13255519	0.94[CEU][hapmap];0.89[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13264014	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13269752	0.83[EUR][1000 genomes]
rs13277976	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1384688	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1483206	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16926407	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1905305	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1964573	0.89[EUR][1000 genomes]
rs2035456	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2035457	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2054666	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2054667	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2128713	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2326598	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28653462	0.87[ASN][1000 genomes]
rs2875984	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4237037	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4237038	0.83[EUR][1000 genomes]
rs4289855	0.90[EUR][1000 genomes]
rs4301480	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4307377	0.89[CHB][hapmap]
rs4391471	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4392940	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4449834	0.89[CHB][hapmap]
rs4500113	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4526395	1.00[CHB][hapmap]
rs4540437	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4562360	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4581092	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4737563	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4737565	0.89[CEU][hapmap];0.89[CHB][hapmap];0.83[EUR][1000 genomes]
rs4738815	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4738818	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4738820	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4738821	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4738822	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4738824	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4738827	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4738831	0.89[CHB][hapmap]
rs4738832	0.89[CHB][hapmap]
rs6471894	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.84[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6471896	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.84[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471897	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6471898	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6471901	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6471902	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6471903	0.89[CEU][hapmap];0.89[CHB][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs6471905	0.89[CHB][hapmap]
rs6982898	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6988582	0.94[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6994180	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6995557	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6996597	0.86[EUR][1000 genomes]
rs6996775	0.82[EUR][1000 genomes]
rs6997208	0.86[EUR][1000 genomes]
rs6997222	0.82[EUR][1000 genomes]
rs7000766	1.00[ASW][hapmap];0.94[CEU][hapmap];0.89[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7000957	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7002806	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7005873	0.89[CHB][hapmap];0.80[TSI][hapmap]
rs7009754	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7011972	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7012450	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7016832	0.81[EUR][1000 genomes]
rs7017676	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs730085	0.94[CEU][hapmap];0.89[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7814114	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7816126	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7816621	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7823484	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7826035	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834076	0.87[EUR][1000 genomes]
rs7834977	0.86[CHB][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7836586	0.89[CEU][hapmap];0.89[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7838426	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7840098	0.89[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7842389	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7842498	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7843033	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7845701	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7846065	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs900502	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9298040	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9298042	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9643371	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9650201	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv6219	chr8:61599770-61644558	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1022801	chr8:61623974-61738067	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv539632	chr8:61623974-61738067	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr8:61615600-61644400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:61621200-61646400	Weak transcription	Fetal Brain Male	brain
3	chr8:61621600-61634200	Weak transcription	Primary T cells from cord blood	blood
4	chr8:61621600-61636400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:61621800-61638200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:61623200-61635800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:61626600-61636000	Weak transcription	Fetal Lung	lung
8	chr8:61627400-61636000	Weak transcription	Spleen	Spleen
9	chr8:61627600-61634800	Weak transcription	Fetal Intestine Large	intestine
10	chr8:61627600-61636600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:61627600-61637200	Weak transcription	HMEC	breast
12	chr8:61627800-61634400	Weak transcription	Fetal Intestine Small	intestine
13	chr8:61627800-61638200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr8:61627800-61644400	Weak transcription	Fetal Kidney	kidney
15	chr8:61628200-61636200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:61628800-61634200	Weak transcription	HSMMtube	muscle
17	chr8:61628800-61634600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:61628800-61636400	Weak transcription	Hela-S3	cervix
19	chr8:61628800-61636600	Weak transcription	NHEK	skin
20	chr8:61629000-61634200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:61629000-61634200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:61629000-61634400	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr8:61629000-61635800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr8:61629000-61636000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:61629000-61636000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:61629000-61637600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:61629200-61634200	Weak transcription	HSMM	muscle
28	chr8:61630200-61637400	Weak transcription	Stomach Mucosa	stomach
29	chr8:61630400-61634400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:61630800-61635200	Enhancers	Primary B cells from peripheral blood	blood
31	chr8:61631200-61634400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:61631400-61637800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr8:61631400-61638200	Weak transcription	A549	lung
34	chr8:61631600-61634400	Enhancers	Right Ventricle	heart
35	chr8:61631600-61634800	Enhancers	Right Atrium	heart
36	chr8:61631800-61636400	Weak transcription	Pancreas	Pancrea
37	chr8:61631800-61637600	Weak transcription	Gastric	stomach
38	chr8:61632200-61634600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:61632200-61634800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:61632200-61634800	Enhancers	Left Ventricle	heart
41	chr8:61632200-61635000	Enhancers	Brain Anterior Caudate	brain
42	chr8:61632400-61637600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:61632800-61635200	Enhancers	Brain Substantia Nigra	brain
44	chr8:61633000-61634400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:61633200-61634800	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr8:61633200-61634800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr8:61633200-61635000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr8:61633200-61635000	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr8:61633200-61635000	Enhancers	Duodenum Mucosa	Duodenum
50	chr8:61633200-61636200	Weak transcription	Primary B cells from cord blood	blood

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