Variant report

Variant	rs6993463
Chromosome Location	chr8:10669815-10669816
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10102073	1.00[CHB][hapmap]
rs1052523	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11250089	1.00[ASN][1000 genomes]
rs11786713	1.00[CHB][hapmap]
rs11986744	1.00[ASN][1000 genomes]
rs11990229	1.00[ASN][1000 genomes]
rs11997941	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes]
rs13256603	0.88[EUR][1000 genomes]
rs13256636	0.88[EUR][1000 genomes]
rs13259547	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13261103	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13273767	0.80[EUR][1000 genomes]
rs13275368	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes]
rs13277664	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13279753	0.80[EUR][1000 genomes]
rs13280573	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17152329	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17152398	0.80[EUR][1000 genomes]
rs17152399	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17152442	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs17152492	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17721019	0.85[EUR][1000 genomes]
rs2409653	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2409654	1.00[CHB][hapmap]
rs2409655	1.00[CHB][hapmap]
rs2409656	1.00[CHB][hapmap]
rs2898244	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2898246	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs34349857	0.97[EUR][1000 genomes]
rs34535545	0.97[EUR][1000 genomes]
rs34836781	1.00[ASN][1000 genomes]
rs34837434	1.00[ASN][1000 genomes]
rs35039898	0.90[EUR][1000 genomes]
rs35545799	1.00[ASN][1000 genomes]
rs35660623	0.97[EUR][1000 genomes]
rs35793804	1.00[ASN][1000 genomes]
rs35873156	0.93[EUR][1000 genomes]
rs4129653	1.00[CHB][hapmap]
rs4310166	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs61064518	0.85[EUR][1000 genomes]
rs6601531	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6601532	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6601537	1.00[CHB][hapmap]
rs6601538	1.00[CHB][hapmap]
rs6980549	1.00[ASN][1000 genomes]
rs6981179	1.00[ASN][1000 genomes]
rs6982062	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6983180	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs6987083	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6989930	1.00[CEU][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990041	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6992312	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs6993632	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6993753	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes]
rs7001530	1.00[ASN][1000 genomes]
rs7005389	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes]
rs7006707	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7009841	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7010246	1.00[CHB][hapmap]
rs7015820	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71516595	0.80[EUR][1000 genomes]
rs73209953	1.00[ASN][1000 genomes]
rs73209954	1.00[ASN][1000 genomes]
rs73529608	0.95[EUR][1000 genomes]
rs73531562	0.93[EUR][1000 genomes]
rs7463228	1.00[CHB][hapmap]
rs7813417	1.00[CHB][hapmap]
rs7814489	0.85[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7822821	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7824708	1.00[ASN][1000 genomes]
rs7824878	1.00[CHB][hapmap]
rs7833599	1.00[CHB][hapmap]
rs7838734	1.00[CHB][hapmap]
rs7840610	1.00[CHB][hapmap]
rs7840769	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs891557	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs934325	1.00[CHB][hapmap]
rs9969476	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv519768	chr8:10600254-10691993	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
8	nsv519376	chr8:10611708-10691993	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv429860	chr8:10615990-10685890	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1019754	chr8:10617908-10700140	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv539471	chr8:10617908-10700140	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1031726	chr8:10627742-10749369	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10645000-10670000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:10647000-10674400	Weak transcription	Right Ventricle	heart
3	chr8:10647000-10681200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:10647200-10673600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:10648200-10683400	Weak transcription	Brain Angular Gyrus	brain
6	chr8:10650000-10676200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:10650600-10671200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:10657200-10670000	Weak transcription	Lung	lung
9	chr8:10657400-10681400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:10657400-10685800	Weak transcription	Psoas Muscle	Psoas
11	chr8:10657600-10670000	Weak transcription	Gastric	stomach
12	chr8:10657600-10674200	Weak transcription	Pancreas	Pancrea
13	chr8:10657600-10674600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:10657600-10674600	Weak transcription	Esophagus	oesophagus
15	chr8:10657600-10674600	Weak transcription	Left Ventricle	heart
16	chr8:10657600-10681800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr8:10657800-10673000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr8:10657800-10673200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:10657800-10674400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr8:10657800-10674600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr8:10657800-10680600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:10657800-10680600	Weak transcription	HSMMtube	muscle
23	chr8:10658400-10673000	Weak transcription	Liver	Liver
24	chr8:10658400-10676000	Weak transcription	HepG2	liver
25	chr8:10658600-10673400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:10658600-10676000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:10659400-10673400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:10659400-10676000	Weak transcription	NHLF	lung
29	chr8:10659600-10682400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr8:10660000-10679200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:10660200-10673400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:10660400-10670600	Weak transcription	Osteobl	bone
33	chr8:10660400-10677000	Weak transcription	NHDF-Ad	bronchial
34	chr8:10662000-10673400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:10662200-10671400	Weak transcription	Brain Substantia Nigra	brain
36	chr8:10662600-10674400	Weak transcription	Brain Anterior Caudate	brain
37	chr8:10662600-10676000	Weak transcription	Brain Germinal Matrix	brain
38	chr8:10662800-10674400	Weak transcription	Brain Hippocampus Middle	brain
39	chr8:10663000-10681200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:10663000-10681400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr8:10663000-10696200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr8:10663200-10673400	Weak transcription	HMEC	breast
43	chr8:10664000-10670600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:10664400-10670000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr8:10664600-10670000	Weak transcription	HUVEC	blood vessel
46	chr8:10664600-10671400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr8:10664600-10671400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:10665400-10671400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr8:10665400-10672600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:10665400-10673200	Weak transcription	Duodenum Mucosa	Duodenum

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