Variant report

Variant	rs2195196
Chromosome Location	chr2:231393110-231393111
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1102957	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1104327	0.98[EUR][1000 genomes]
rs13000851	0.98[EUR][1000 genomes]
rs1649876	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1649902	0.85[EUR][1000 genomes]
rs1649906	0.98[EUR][1000 genomes]
rs1649907	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1649908	0.98[EUR][1000 genomes]
rs1649909	0.94[EUR][1000 genomes]
rs1649910	0.87[EUR][1000 genomes]
rs1649921	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1649925	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1678151	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1678187	0.98[EUR][1000 genomes]
rs1678189	0.95[EUR][1000 genomes]
rs1678190	0.88[EUR][1000 genomes]
rs1678199	0.92[EUR][1000 genomes]
rs1678205	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1678210	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1678211	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2434050	0.98[EUR][1000 genomes]
rs33078	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs33079	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4973324	0.91[EUR][1000 genomes]
rs4973325	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62193433	0.81[ASN][1000 genomes]
rs62195461	0.98[EUR][1000 genomes]
rs6436942	0.84[EUR][1000 genomes]
rs6436944	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6436945	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6717269	0.98[EUR][1000 genomes]
rs6724975	0.98[EUR][1000 genomes]
rs6740016	0.98[EUR][1000 genomes]
rs699660	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs699661	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs836232	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs836236	0.98[EUR][1000 genomes]
rs836237	0.98[EUR][1000 genomes]
rs836238	0.98[EUR][1000 genomes]
rs836239	0.98[EUR][1000 genomes]
rs890668	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[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	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv875948	chr2:231380697-231420401	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv584673	chr2:231385231-231433237	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231371000-231409800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:231390600-231403800	Weak transcription	Ovary	ovary
3	chr2:231390600-231404000	Weak transcription	Left Ventricle	heart
4	chr2:231390600-231404000	Weak transcription	Lung	lung
5	chr2:231390600-231408200	Weak transcription	Esophagus	oesophagus
6	chr2:231390800-231394800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr2:231390800-231405600	Weak transcription	Thymus	Thymus
8	chr2:231390800-231409200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:231391000-231406400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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