Variant report

Variant	rs10861396
Chromosome Location	chr12:105710533-105710534
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10861371	1.00[CHB][hapmap];0.83[AMR][1000 genomes]
rs10861388	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861400	1.00[CHB][hapmap]
rs10861407	1.00[CHB][hapmap]
rs10861409	1.00[CHB][hapmap]
rs11112434	1.00[CHB][hapmap]
rs11112451	1.00[ASN][1000 genomes]
rs11112461	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112465	0.94[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11112467	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11112468	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11112475	1.00[CHB][hapmap]
rs11513891	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11519725	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613789	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196748	1.00[CHB][hapmap]
rs1196749	1.00[CHB][hapmap]
rs1196753	1.00[CHB][hapmap]
rs1196754	1.00[CHB][hapmap]
rs1196756	1.00[CHB][hapmap]
rs1196760	1.00[CHB][hapmap]
rs1196777	1.00[CHB][hapmap]
rs1196793	1.00[CHB][hapmap]
rs1196806	1.00[CHB][hapmap]
rs1196813	1.00[CHB][hapmap]
rs1196817	1.00[CHB][hapmap]
rs1196818	1.00[CHB][hapmap]
rs1196819	1.00[CHB][hapmap]
rs1196852	1.00[CHB][hapmap]
rs1196861	1.00[CHB][hapmap]
rs1196862	1.00[CHB][hapmap]
rs1196864	1.00[CHB][hapmap]
rs1211276	1.00[CHB][hapmap]
rs12822081	1.00[CHB][hapmap];0.83[AMR][1000 genomes]
rs12822314	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827086	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12828874	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1663564	1.00[CHB][hapmap]
rs2440715	1.00[CHB][hapmap]
rs2888846	1.00[CHB][hapmap]
rs35225620	0.83[AMR][1000 genomes]
rs35407439	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35561158	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35801994	0.81[AMR][1000 genomes]
rs4545651	0.94[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7299225	1.00[CHB][hapmap]
rs7302174	1.00[CHB][hapmap]
rs7303242	0.87[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7303307	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7959385	0.94[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7972400	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7972676	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7972982	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935240	1.00[CHB][hapmap]
rs935241	1.00[CHB][hapmap]
rs935244	1.00[CHB][hapmap]
rs9645791	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv510589	chr12:105670071-105743755	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105704200-105711000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr12:105706400-105715000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:105706600-105711000	Weak transcription	Fetal Kidney	kidney
4	chr12:105708600-105711600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:105708600-105711600	Enhancers	HMEC	breast
6	chr12:105708600-105712400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:105708800-105711000	Enhancers	A549	lung
8	chr12:105708800-105712200	Enhancers	NHEK	skin
9	chr12:105709000-105711000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:105709000-105711600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:105709200-105711800	Enhancers	Fetal Intestine Large	intestine
12	chr12:105709200-105711800	Enhancers	NHDF-Ad	bronchial
13	chr12:105709200-105712000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr12:105709200-105712600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr12:105709400-105711200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:105709400-105711600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:105709400-105711600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:105709400-105712200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:105709400-105712400	Enhancers	HSMM	muscle
20	chr12:105709400-105712600	Enhancers	Osteobl	bone
21	chr12:105709400-105717200	Enhancers	Fetal Intestine Small	intestine
22	chr12:105709600-105710800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr12:105709600-105711000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:105709600-105711000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:105709600-105711000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:105709600-105711400	Weak transcription	Hela-S3	cervix
27	chr12:105709600-105712600	Enhancers	NHLF	lung
28	chr12:105709600-105713400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr12:105709800-105710800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr12:105709800-105713800	Weak transcription	Primary T cells from cord blood	blood
31	chr12:105709800-105714600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:105710000-105711000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:105710000-105711000	Weak transcription	Pancreas	Pancrea
34	chr12:105710000-105711000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:105710000-105713200	Weak transcription	Gastric	stomach
36	chr12:105710000-105713600	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr12:105710000-105715000	Weak transcription	Lung	lung
38	chr12:105710200-105710600	Weak transcription	Stomach Mucosa	stomach
39	chr12:105710200-105710600	Weak transcription	HSMMtube	muscle
40	chr12:105710200-105711000	Enhancers	HepG2	liver

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