Variant report

Variant	rs6469657
Chromosome Location	chr8:117668389-117668390
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10085939	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10086419	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10088177	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10093551	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10096134	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10105610	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112279	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10112604	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10505282	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505286	0.89[ASN][1000 genomes]
rs10505287	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10808484	0.96[ASN][1000 genomes]
rs11781970	0.89[ASN][1000 genomes]
rs12547058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1317271	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13258529	0.81[EUR][1000 genomes]
rs13262725	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13277958	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1347626	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1436765	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1436766	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1529945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2118108	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3088140	0.82[EUR][1000 genomes]
rs34519652	0.82[EUR][1000 genomes]
rs35905748	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4256624	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4278180	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4289846	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4289847	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4335152	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4335153	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4422805	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4472547	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4601347	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4623456	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4629900	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4645587	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs55951040	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6469656	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6980504	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983032	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6988841	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7013617	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7820778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7821132	0.82[EUR][1000 genomes]
rs7830860	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7833054	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7836549	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7843852	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS 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

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117636400-117670800	Weak transcription	Pancreas	Pancrea
2	chr8:117647200-117677800	Weak transcription	Gastric	stomach
3	chr8:117649000-117670000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr8:117649000-117670400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:117651200-117675000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:117651400-117670400	Weak transcription	Psoas Muscle	Psoas
7	chr8:117652400-117669200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:117652800-117670400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:117654000-117672600	Weak transcription	Esophagus	oesophagus
10	chr8:117654600-117675200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:117654600-117715200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:117655000-117670400	Weak transcription	Stomach Mucosa	stomach
13	chr8:117655400-117670400	Weak transcription	Right Ventricle	heart
14	chr8:117656800-117670000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:117657200-117670200	Weak transcription	Fetal Intestine Small	intestine
16	chr8:117657800-117672200	Weak transcription	Lung	lung
17	chr8:117658800-117669200	Weak transcription	Small Intestine	intestine
18	chr8:117658800-117669600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr8:117658800-117674800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:117659000-117669000	Weak transcription	Aorta	Aorta
21	chr8:117659000-117669400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr8:117659000-117669400	Weak transcription	Fetal Stomach	stomach
23	chr8:117659000-117669600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr8:117659000-117670200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:117659000-117670400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr8:117659000-117670400	Weak transcription	Fetal Intestine Large	intestine
27	chr8:117659000-117670400	Weak transcription	Fetal Muscle Leg	muscle
28	chr8:117659000-117670400	Weak transcription	Ovary	ovary
29	chr8:117659000-117670400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr8:117659000-117670600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr8:117659000-117677200	Weak transcription	Thymus	Thymus
32	chr8:117659000-117698000	Weak transcription	Hela-S3	cervix
33	chr8:117659200-117669000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr8:117659200-117669600	Weak transcription	A549	lung
35	chr8:117659200-117670600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr8:117659200-117671000	Weak transcription	Placenta	Placenta
37	chr8:117659400-117669200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr8:117660000-117697400	Weak transcription	NHEK	skin
39	chr8:117660800-117669400	Weak transcription	Colon Smooth Muscle	Colon
40	chr8:117660800-117675200	Weak transcription	Liver	Liver
41	chr8:117661200-117670400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr8:117661600-117670600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr8:117662000-117670600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr8:117662400-117670400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr8:117662600-117669200	Weak transcription	NHDF-Ad	bronchial
46	chr8:117662600-117670000	Weak transcription	NHLF	lung
47	chr8:117662600-117670400	Weak transcription	Brain Angular Gyrus	brain
48	chr8:117662800-117670200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:117663000-117670000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr8:117663000-117670000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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