Variant report

Variant	rs4391471
Chromosome Location	chr8:61709500-61709501
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10093135	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10103011	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10109193	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1038351	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1038352	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10448027	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10808711	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10808712	0.84[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10808713	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10957154	0.89[EUR][1000 genomes]
rs10957155	0.89[EUR][1000 genomes]
rs10957156	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10957158	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10957161	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957162	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11985638	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11986059	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11986742	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988338	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11989183	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11990495	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11991467	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11992809	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11993480	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11993490	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11993896	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995234	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12544305	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs12681737	0.81[ASN][1000 genomes]
rs13255519	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13264014	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13277976	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1384688	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1483206	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1905305	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2035456	0.94[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs2035457	0.89[EUR][1000 genomes]
rs2054666	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2054667	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2128713	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs2326598	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28653462	0.87[ASN][1000 genomes]
rs2875984	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4237037	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4237038	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4289855	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4301480	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4307377	0.81[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4387010	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4392940	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4416857	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4449834	0.81[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4500113	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4507803	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4526395	0.88[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4540437	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4562360	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4581092	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737563	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4737565	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4738815	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs4738818	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4738820	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4738821	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4738822	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4738824	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4738827	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4738831	0.81[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4738832	0.81[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6471894	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs6471896	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6471897	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6471898	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6471901	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6471902	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6471903	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6471905	0.81[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6982898	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988582	0.90[CEU][hapmap];0.90[EUR][1000 genomes]
rs6994180	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6995557	0.89[EUR][1000 genomes]
rs6996597	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6996775	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6997208	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6997222	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7000766	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7000957	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7002806	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7005873	0.81[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7009754	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7011972	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7012450	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7016832	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7017676	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs730085	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7814114	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7816126	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7816621	0.84[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs7823484	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7826035	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7834076	0.82[EUR][1000 genomes]
rs7834977	0.88[CHB][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7836586	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7838426	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7840098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842389	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7842498	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7843033	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7844902	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7845701	0.93[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7846065	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs900502	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs9298040	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9298042	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643371	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs9650201	0.90[EUR][1000 genomes];0.93[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	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	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
3	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
4	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
5	nsv1019330	chr8:61697104-61744335	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61680200-61710400	Weak transcription	Pancreas	Pancrea
2	chr8:61683600-61711200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:61687200-61720400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:61688800-61719600	Weak transcription	NHEK	skin
5	chr8:61691200-61742800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:61692200-61719400	Weak transcription	HMEC	breast
7	chr8:61695000-61743000	Weak transcription	Placenta	Placenta
8	chr8:61695200-61722600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:61696400-61710800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr8:61696400-61736400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:61700200-61716400	Weak transcription	Hela-S3	cervix
12	chr8:61702400-61711000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:61702800-61710400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr8:61703200-61713000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:61704200-61710000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:61704400-61745000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:61705400-61711000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr8:61705400-61711000	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr8:61705400-61711600	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr8:61705400-61712400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:61705400-61728200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:61705600-61710400	Enhancers	Primary T cells from cord blood	blood
23	chr8:61705600-61710400	Enhancers	Brain Germinal Matrix	brain
24	chr8:61705600-61710800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr8:61705600-61712800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr8:61705600-61720000	Weak transcription	NH-A	brain
27	chr8:61705600-61721000	Weak transcription	Fetal Intestine Large	intestine
28	chr8:61705600-61721600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr8:61705600-61725800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr8:61705600-61726600	Weak transcription	Right Ventricle	heart
31	chr8:61705600-61728000	Weak transcription	Small Intestine	intestine
32	chr8:61705600-61742400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr8:61705600-61742600	Weak transcription	Spleen	Spleen
34	chr8:61705600-61743000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr8:61705600-61743000	Weak transcription	Fetal Stomach	stomach
36	chr8:61705600-61743000	Weak transcription	Lung	lung
37	chr8:61705800-61709600	Enhancers	Dnd41	blood
38	chr8:61705800-61710000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr8:61705800-61710600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr8:61705800-61711200	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr8:61705800-61713000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr8:61705800-61713000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr8:61705800-61717000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr8:61705800-61720400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr8:61705800-61720400	Weak transcription	K562	blood
46	chr8:61705800-61721600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr8:61705800-61721800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr8:61705800-61723400	Weak transcription	Esophagus	oesophagus
49	chr8:61705800-61733400	Weak transcription	Adipose Nuclei	Adipose
50	chr8:61705800-61735000	Weak transcription	Brain Substantia Nigra	brain

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