Variant report

Variant	rs11993896
Chromosome Location	chr8:61702929-61702930
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	chr8:61697366..61699361-chr8:61701712..61703525,2	K562	blood:

Extended variants
information (count: 122 )
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];0.91[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	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10808713	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10957154	0.88[EUR][1000 genomes]
rs10957155	0.88[EUR][1000 genomes]
rs10957156	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10957158	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10957161	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[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];0.91[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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988338	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[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	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11991467	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11992809	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11993480	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11993490	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11995234	0.89[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];0.96[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];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1483206	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1905305	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2035456	0.89[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs2035457	0.88[EUR][1000 genomes]
rs2054666	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2054667	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2128713	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs2326598	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28653462	0.87[ASN][1000 genomes]
rs2875984	0.85[AMR][1000 genomes];0.93[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	0.92[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];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4387010	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4391471	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4392940	0.93[AMR][1000 genomes];0.97[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	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs4500113	0.87[AMR][1000 genomes];0.96[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	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4737565	0.95[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4738815	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs4738818	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4738820	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4738821	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4738822	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4738824	0.95[AMR][1000 genomes];0.97[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	1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4738832	0.82[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.83[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	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6471898	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6471901	0.95[AMR][1000 genomes];0.97[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];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6471905	0.81[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.82[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	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs6994180	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6995557	0.88[EUR][1000 genomes]
rs6996597	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6996775	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6997208	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6997222	0.80[AMR][1000 genomes];0.91[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];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7005873	0.81[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7009754	0.95[AMR][1000 genomes];0.97[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	0.87[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	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs730085	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7814114	0.84[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];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7826035	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7834076	0.81[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];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[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];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7842498	0.95[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]
rs7843033	0.91[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	0.86[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7846065	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs900502	0.90[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	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643371	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs9650201	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	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
4	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
5	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
6	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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61680200-61704200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:61680200-61705200	Weak transcription	Esophagus	oesophagus
3	chr8:61680200-61710400	Weak transcription	Pancreas	Pancrea
4	chr8:61681200-61705200	Weak transcription	Spleen	Spleen
5	chr8:61682200-61705200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr8:61683600-61711200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:61685200-61704200	Weak transcription	Small Intestine	intestine
8	chr8:61687200-61704200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:61687200-61704200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:61687200-61720400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:61687400-61704400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr8:61688800-61719600	Weak transcription	NHEK	skin
13	chr8:61690000-61705200	Weak transcription	Psoas Muscle	Psoas
14	chr8:61690200-61705200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:61691200-61703600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:61691200-61742800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:61691800-61705200	Weak transcription	Colonic Mucosa	Colon
18	chr8:61692200-61719400	Weak transcription	HMEC	breast
19	chr8:61693000-61704200	Weak transcription	Fetal Kidney	kidney
20	chr8:61694000-61703800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr8:61694000-61705000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr8:61694800-61704000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr8:61694800-61708200	Weak transcription	A549	lung
24	chr8:61695000-61703800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr8:61695000-61703800	Weak transcription	Gastric	stomach
26	chr8:61695000-61704200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:61695000-61704200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr8:61695000-61705000	Weak transcription	Fetal Stomach	stomach
29	chr8:61695000-61705200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:61695000-61705200	Weak transcription	Adipose Nuclei	Adipose
31	chr8:61695000-61705200	Weak transcription	Liver	Liver
32	chr8:61695000-61743000	Weak transcription	Placenta	Placenta
33	chr8:61695200-61704600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr8:61695200-61704800	Weak transcription	Fetal Lung	lung
35	chr8:61695200-61704800	Weak transcription	HUVEC	blood vessel
36	chr8:61695200-61722600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr8:61695400-61704800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr8:61695600-61703800	Weak transcription	HSMM	muscle
39	chr8:61696000-61705400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr8:61696200-61705000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr8:61696400-61705200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr8:61696400-61710800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr8:61696400-61736400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:61696600-61703600	Weak transcription	HSMMtube	muscle
45	chr8:61697000-61703400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:61697200-61704200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr8:61697200-61704800	Weak transcription	HepG2	liver
48	chr8:61697200-61705200	Weak transcription	Lung	lung
49	chr8:61697200-61705200	Weak transcription	Right Atrium	heart
50	chr8:61697400-61703400	Weak transcription	K562	blood

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