Variant report

Variant	rs12170637
Chromosome Location	chr22:28675098-28675099
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10212083	0.91[CEU][hapmap]
rs10483148	1.00[CHB][hapmap]
rs10483150	1.00[CHB][hapmap]
rs10483151	0.83[CEU][hapmap]
rs12166475	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1297607	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs134194	0.91[CEU][hapmap]
rs134197	0.83[CEU][hapmap]
rs134488	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs134501	1.00[CHB][hapmap]
rs134503	1.00[CHB][hapmap]
rs134504	1.00[CHB][hapmap]
rs134506	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.87[EUR][1000 genomes]
rs134509	1.00[CHB][hapmap]
rs134510	1.00[CHB][hapmap]
rs134514	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs134520	1.00[CHB][hapmap]
rs134521	1.00[CHB][hapmap]
rs134524	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs134528	1.00[CHB][hapmap]
rs134547	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs135641	1.00[CHB][hapmap]
rs135642	1.00[CHB][hapmap]
rs135644	1.00[CHB][hapmap]
rs135645	1.00[CHB][hapmap]
rs135649	1.00[CHB][hapmap]
rs1569700	1.00[CHB][hapmap]
rs16986177	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16986254	1.00[CHB][hapmap]
rs16986257	1.00[CHB][hapmap]
rs16986266	1.00[CHB][hapmap]
rs16986308	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16986398	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17413461	0.83[CEU][hapmap]
rs17487463	0.83[CEU][hapmap]
rs2038287	1.00[CHB][hapmap]
rs7285440	1.00[CHB][hapmap]
rs738200	0.91[CEU][hapmap]
rs79104	1.00[CHB][hapmap]
rs79107	1.00[CHB][hapmap]
rs9620778	0.91[CEU][hapmap]
rs9620779	0.91[CEU][hapmap]
rs9625433	0.83[CEU][hapmap]
rs9625437	0.91[CEU][hapmap]
rs9625438	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9625440	0.83[CEU][hapmap]
rs9625447	0.83[CEU][hapmap]
rs9625467	0.91[CEU][hapmap]
rs9625475	0.91[CEU][hapmap]
rs9625477	0.91[CEU][hapmap]
rs9625478	0.83[CEU][hapmap]

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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28651800-28690600	Weak transcription	Dnd41	blood
2	chr22:28657000-28691600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr22:28665600-28677600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr22:28666200-28691000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:28672000-28681000	Weak transcription	Fetal Lung	lung
6	chr22:28672200-28678400	Weak transcription	Fetal Stomach	stomach
7	chr22:28672400-28679800	Weak transcription	Psoas Muscle	Psoas
8	chr22:28672800-28678800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr22:28674200-28679000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr22:28674600-28676600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr22:28675000-28675400	Weak transcription	NHDF-Ad	bronchial

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