Variant report

Variant	rs12247652
Chromosome Location	chr10:98367593-98367594
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:98366804..98369956-chr10:98370785..98374405,6	K562	blood:
2	chr10:98367008..98370019-chr10:98371148..98375452,4	K562	blood:
3	chr10:98359371..98362187-chr10:98366935..98369063,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10736113	1.00[ASN][1000 genomes]
rs10748682	1.00[ASN][1000 genomes]
rs10748683	1.00[ASN][1000 genomes]
rs10748684	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10748685	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10786302	1.00[ASN][1000 genomes]
rs10786303	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10786304	1.00[ASN][1000 genomes]
rs11188849	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188850	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11591933	1.00[ASN][1000 genomes]
rs11592108	1.00[ASN][1000 genomes]
rs11592156	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11592969	1.00[ASN][1000 genomes]
rs11594403	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11596148	1.00[EUR][1000 genomes]
rs11598142	1.00[ASN][1000 genomes]
rs11599054	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17391197	1.00[ASN][1000 genomes]
rs17392013	1.00[ASN][1000 genomes]
rs2861626	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4919030	1.00[ASN][1000 genomes]
rs4919039	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55822182	1.00[ASN][1000 genomes]
rs60471672	1.00[ASN][1000 genomes]
rs61858218	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858555	1.00[ASN][1000 genomes]
rs61858556	1.00[ASN][1000 genomes]
rs6584088	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7072865	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7073125	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7073735	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7093849	1.00[ASN][1000 genomes]
rs7100639	1.00[ASN][1000 genomes]
rs744363	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7893530	0.97[EUR][1000 genomes]
rs7897721	1.00[ASN][1000 genomes]
rs7923910	1.00[ASN][1000 genomes]
rs912485	1.00[ASN][1000 genomes]
rs912486	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413353	chr10:98039370-98561524	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking 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	45 gene(s)	inside rSNPs	diseases
2	nsv895909	chr10:98354924-98382165	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv532232	chr10:98360775-99141797	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:98348000-98373600	Weak transcription	Left Ventricle	heart
2	chr10:98349800-98367800	Weak transcription	Small Intestine	intestine
3	chr10:98350800-98395600	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr10:98352400-98378600	Strong transcription	Liver	Liver
5	chr10:98352400-98399400	Strong transcription	Primary B cells from peripheral blood	blood
6	chr10:98352600-98369400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr10:98352600-98403000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr10:98353000-98388400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr10:98353000-98403000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr10:98354600-98388600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr10:98354800-98370600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr10:98357600-98369200	Weak transcription	HepG2	liver
13	chr10:98357800-98382000	Strong transcription	GM12878-XiMat	blood
14	chr10:98358600-98370400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr10:98358800-98369600	Weak transcription	Gastric	stomach
16	chr10:98359400-98373400	Weak transcription	Right Ventricle	heart
17	chr10:98360400-98392800	Weak transcription	Thymus	Thymus
18	chr10:98360800-98369400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr10:98362200-98369000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr10:98362200-98389200	Strong transcription	Primary B cells from cord blood	blood
21	chr10:98362600-98367600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr10:98362600-98373600	Weak transcription	Lung	lung
23	chr10:98363800-98392600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr10:98364800-98367600	Enhancers	Placenta	Placenta
25	chr10:98365600-98374200	Enhancers	Fetal Intestine Large	intestine
26	chr10:98365600-98374400	Enhancers	Fetal Intestine Small	intestine
27	chr10:98365800-98369800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr10:98365800-98370000	Enhancers	Ovary	ovary
29	chr10:98366000-98367600	Enhancers	Right Atrium	heart
30	chr10:98366000-98370600	Strong transcription	Spleen	Spleen
31	chr10:98366000-98388400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr10:98366200-98369400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr10:98366200-98370400	Strong transcription	Primary hematopoietic stem cells	blood
34	chr10:98366400-98367600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr10:98366400-98373400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr10:98366600-98367600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr10:98366600-98368400	Enhancers	HSMM	muscle
38	chr10:98366600-98392600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr10:98367200-98367600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr10:98367200-98367600	Enhancers	Colonic Mucosa	Colon
41	chr10:98367200-98372800	Strong transcription	Pancreas	Pancrea
42	chr10:98367200-98375000	Enhancers	Stomach Mucosa	stomach
43	chr10:98367200-98376200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr10:98367400-98369000	Enhancers	HSMMtube	muscle
45	chr10:98367400-98370400	Enhancers	Duodenum Mucosa	Duodenum
46	chr10:98367400-98375000	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr10:98367400-98376200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr10:98367400-98418600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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