Variant report

Variant	rs10490051
Chromosome Location	chr2:40571426-40571427
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10178405	0.82[CEU][hapmap];0.90[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.83[MEX][hapmap]
rs12471797	0.82[ASN][1000 genomes]
rs12613022	0.92[ASN][1000 genomes]
rs12712692	0.81[CHB][hapmap]
rs12996962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13017968	1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13022231	0.95[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13031340	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13031441	0.95[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13032770	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1477004	0.82[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap]
rs1558655	0.80[CHB][hapmap]
rs2192779	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2373857	0.95[CHB][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap]
rs2373859	0.85[CHB][hapmap];0.92[CHD][hapmap];0.84[JPT][hapmap];0.83[MEX][hapmap]
rs4446101	0.85[CHB][hapmap];0.85[GIH][hapmap];0.88[JPT][hapmap]
rs4645043	0.82[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.83[MEX][hapmap]
rs4952409	0.95[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs6544324	0.80[CHB][hapmap]
rs6544330	0.80[CHB][hapmap]
rs6544333	0.85[ASN][1000 genomes]
rs6544334	0.87[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.82[TSI][hapmap]
rs6738580	0.80[CHB][hapmap]
rs6745881	0.80[ASN][1000 genomes]
rs7598561	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs918002	0.82[ASN][1000 genomes]
rs967351	0.82[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.83[MEX][hapmap];0.80[ASN][1000 genomes]
rs981739	0.90[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap]
rs984707	0.95[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv34071	chr2:40435231-40578229	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1010508	chr2:40526981-40590777	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv535655	chr2:40526981-40590777	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40543200-40578800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:40552800-40590600	Weak transcription	Fetal Kidney	kidney
3	chr2:40560200-40579000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:40561200-40572800	Weak transcription	Left Ventricle	heart
5	chr2:40566200-40575600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr2:40567200-40572400	Enhancers	Fetal Heart	heart
7	chr2:40568200-40571800	Weak transcription	Right Ventricle	heart
8	chr2:40568600-40575800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:40568800-40573200	Weak transcription	Dnd41	blood
10	chr2:40569800-40573600	Enhancers	Osteobl	bone
11	chr2:40570200-40575600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:40570400-40574600	Enhancers	Rectal Smooth Muscle	rectum
13	chr2:40570400-40576800	Enhancers	NHDF-Ad	bronchial
14	chr2:40570600-40571800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:40570600-40572200	Enhancers	HSMM	muscle
16	chr2:40570600-40572400	Enhancers	HSMMtube	muscle
17	chr2:40570600-40574200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:40571000-40571600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:40571000-40571600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:40571000-40571600	Enhancers	NH-A	brain
21	chr2:40571000-40571800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:40571000-40572800	Enhancers	Colon Smooth Muscle	Colon
23	chr2:40571000-40573400	Enhancers	Stomach Smooth Muscle	stomach
24	chr2:40571000-40573800	Enhancers	Fetal Stomach	stomach
25	chr2:40571000-40577000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:40571200-40571600	Enhancers	HMEC	breast
27	chr2:40571200-40572400	Enhancers	NHLF	lung
28	chr2:40571200-40572800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:40571400-40571800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:40571400-40573400	Weak transcription	Aorta	Aorta
31	chr2:40571400-40574600	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr2:40571400-40576000	Enhancers	Right Atrium	heart
33	chr2:40571400-40576800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links