Variant report

Variant	rs4630806
Chromosome Location	chr2:31292715-31292716
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10490519	0.81[CEU][hapmap];0.89[TSI][hapmap];0.80[EUR][1000 genomes]
rs10865087	0.90[EUR][1000 genomes]
rs11124241	0.80[EUR][1000 genomes]
rs1122261	0.81[CEU][hapmap]
rs12463945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12466133	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12993947	0.81[EUR][1000 genomes]
rs12994752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13006348	0.81[CEU][hapmap]
rs13021484	0.81[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13023792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13035341	0.93[EUR][1000 genomes]
rs1862976	0.83[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1862981	0.81[CHD][hapmap]
rs1991105	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2098787	0.82[CEU][hapmap]
rs2113490	0.83[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2194464	0.81[CEU][hapmap];0.82[TSI][hapmap]
rs2194465	0.86[EUR][1000 genomes]
rs2194470	0.86[EUR][1000 genomes]
rs2194471	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2216829	0.89[CEU][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs2365193	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2365195	0.81[CEU][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs2365204	0.82[EUR][1000 genomes]
rs2886303	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs4337517	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4951965	0.82[CEU][hapmap]
rs6708428	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs6748774	0.81[CEU][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs6760378	0.80[EUR][1000 genomes]
rs749709	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs749710	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs749711	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7565904	0.81[EUR][1000 genomes]
rs7592634	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs880618	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9973425	0.81[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31278200-31293000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:31278200-31310800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:31278800-31306800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:31284000-31301800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr2:31286600-31293400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:31287200-31297000	Weak transcription	Aorta	Aorta
7	chr2:31288800-31294400	Weak transcription	Esophagus	oesophagus
8	chr2:31288800-31305000	Weak transcription	Right Atrium	heart
9	chr2:31288800-31308400	Weak transcription	Spleen	Spleen
10	chr2:31290400-31293000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:31290600-31292800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:31290600-31293000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:31291000-31298400	Weak transcription	Brain Germinal Matrix	brain
14	chr2:31292200-31293000	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr2:31292400-31292800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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