Variant report

Variant	rs11689637
Chromosome Location	chr2:172452932-172452933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172443186..172445133-chr2:172451664..172453720,2	K562	blood:

Variant related genes	Relation type
ENSG00000233934	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10185715	0.81[ASN][1000 genomes]
rs10211146	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10221787	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10432470	0.81[ASN][1000 genomes]
rs10432471	0.86[ASN][1000 genomes]
rs10432473	0.81[ASN][1000 genomes]
rs10930485	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11680862	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11680897	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11683752	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11683762	0.94[CEU][hapmap];0.88[CHB][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11686621	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11689452	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12472229	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12476299	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12996145	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13002792	0.92[ASN][1000 genomes]
rs13024519	0.94[CEU][hapmap];0.82[CHB][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13025303	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1473995	0.94[CEU][hapmap];0.88[CHB][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1807872	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1996268	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2884028	0.93[ASN][1000 genomes]
rs4667691	0.96[ASN][1000 genomes]
rs4668391	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4668392	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4668393	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4668394	0.82[CHB][hapmap];0.81[JPT][hapmap];0.82[YRI][hapmap]
rs6433301	0.81[ASN][1000 genomes]
rs6704691	0.87[ASN][1000 genomes]
rs6711201	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6723896	0.81[ASN][1000 genomes]
rs6745725	0.84[ASN][1000 genomes]
rs6747775	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]

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	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv997638	chr2:172442205-172560406	Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172451800-172453000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:172451800-172453000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:172451800-172453000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:172451800-172453000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:172451800-172453200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:172451800-172453200	Enhancers	NHDF-Ad	bronchial
7	chr2:172451800-172453200	Enhancers	NHEK	skin
8	chr2:172452000-172453000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:172452000-172453000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:172452000-172453000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:172452000-172453000	Enhancers	A549	lung
12	chr2:172452000-172453000	Enhancers	Hela-S3	cervix
13	chr2:172452000-172453000	Enhancers	NH-A	brain
14	chr2:172452000-172453000	Enhancers	NHLF	lung
15	chr2:172452000-172453200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr2:172452400-172453200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:172452400-172453200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:172452400-172454800	Weak transcription	Adipose Nuclei	Adipose
19	chr2:172452800-172453200	Enhancers	Osteobl	bone
20	chr2:172452800-172455600	Weak transcription	HMEC	breast

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