Variant report

Variant	rs12547058
Chromosome Location	chr8:117663147-117663148
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:117657497..117660025-chr8:117660765..117664573,4	MCF-7	breast:
2	chr8:117662547..117665506-chr8:117665658..117667921,2	K562	blood:
3	chr8:117658930..117660814-chr8:117662341..117664406,2	K562	blood:
4	chr8:117662870..117665377-chr8:117679610..117681348,2	K562	blood:
5	chr8:117651141..117652984-chr8:117663103..117665208,2	K562	blood:

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];0.96[ASN][1000 genomes]
rs10086419	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10088177	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10093551	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10096134	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10105610	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10112279	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10112604	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10505282	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10505286	0.87[ASN][1000 genomes]
rs10505287	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10808484	0.98[ASN][1000 genomes]
rs11781970	0.87[ASN][1000 genomes]
rs1317271	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13258529	0.81[EUR][1000 genomes]
rs13262725	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13277958	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1347626	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1436765	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1436766	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1529945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2118108	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3088140	0.82[EUR][1000 genomes]
rs34519652	0.82[EUR][1000 genomes]
rs35905748	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4256624	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4278180	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4289846	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4289847	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4335152	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4335153	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4422805	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4472547	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4601347	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4623456	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4629900	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4645587	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs55951040	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6469656	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6469657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6980504	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6983032	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6988841	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7013617	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7820778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7821132	0.82[EUR][1000 genomes]
rs7830860	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7833054	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7836549	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7843852	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117636400-117670800	Weak transcription	Pancreas	Pancrea
2	chr8:117641200-117665600	Weak transcription	Fetal Brain Male	brain
3	chr8:117647200-117677800	Weak transcription	Gastric	stomach
4	chr8:117648000-117667400	Weak transcription	Fetal Heart	heart
5	chr8:117649000-117670000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:117649000-117670400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:117650400-117665600	Weak transcription	Brain Anterior Caudate	brain
8	chr8:117650400-117666600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:117651200-117675000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:117651400-117670400	Weak transcription	Psoas Muscle	Psoas
11	chr8:117652400-117669200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:117652800-117670400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:117654000-117665400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:117654000-117672600	Weak transcription	Esophagus	oesophagus
15	chr8:117654400-117665000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr8:117654600-117675200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:117654600-117715200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:117655000-117668200	Strong transcription	Dnd41	blood
19	chr8:117655000-117670400	Weak transcription	Stomach Mucosa	stomach
20	chr8:117655400-117663600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:117655400-117663600	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr8:117655400-117664200	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr8:117655400-117670400	Weak transcription	Right Ventricle	heart
24	chr8:117655800-117663800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr8:117655800-117666200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr8:117656000-117667800	Weak transcription	Colonic Mucosa	Colon
27	chr8:117656800-117667800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr8:117656800-117670000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr8:117657200-117670200	Weak transcription	Fetal Intestine Small	intestine
30	chr8:117657800-117664000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:117657800-117672200	Weak transcription	Lung	lung
32	chr8:117658000-117664000	Weak transcription	Fetal Kidney	kidney
33	chr8:117658200-117667600	Weak transcription	Brain Germinal Matrix	brain
34	chr8:117658800-117664200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr8:117658800-117665600	Weak transcription	Brain Hippocampus Middle	brain
36	chr8:117658800-117666600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr8:117658800-117669200	Weak transcription	Small Intestine	intestine
38	chr8:117658800-117669600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr8:117658800-117674800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:117659000-117663400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:117659000-117664200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr8:117659000-117664200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr8:117659000-117664200	Weak transcription	HUVEC	blood vessel
44	chr8:117659000-117666600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr8:117659000-117666800	Weak transcription	Left Ventricle	heart
46	chr8:117659000-117669000	Weak transcription	Aorta	Aorta
47	chr8:117659000-117669400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr8:117659000-117669400	Weak transcription	Fetal Stomach	stomach
49	chr8:117659000-117669600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr8:117659000-117670200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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