Variant report

Variant	rs4952044
Chromosome Location	chr2:31275332-31275333
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10206765	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11884697	0.94[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11895540	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12617982	0.89[EUR][1000 genomes]
rs12623059	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12712307	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12712308	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1530394	1.00[CHB][hapmap]
rs1862984	0.94[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1862985	0.94[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2886301	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2886302	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4494793	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4494794	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4951962	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4951963	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4952034	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4952035	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4952037	0.94[EUR][1000 genomes]
rs4952039	0.94[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4952041	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4952042	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709060	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709214	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6738622	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6738843	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746878	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6753030	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6753943	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755188	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7564975	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9653511	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31272200-31275600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr2:31273000-31275600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:31273000-31275600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:31273200-31275400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr2:31273200-31275600	Enhancers	Fetal Intestine Small	intestine
6	chr2:31273400-31275600	Enhancers	Primary hematopoietic stem cells	blood
7	chr2:31273400-31276800	Weak transcription	Pancreas	Pancrea
8	chr2:31274000-31275400	Enhancers	Spleen	Spleen
9	chr2:31274200-31275600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:31274200-31275600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:31274200-31277000	Weak transcription	Fetal Kidney	kidney
12	chr2:31274600-31275600	Enhancers	Primary B cells from cord blood	blood
13	chr2:31275000-31277200	Weak transcription	Fetal Intestine Large	intestine
14	chr2:31275000-31277200	Weak transcription	Small Intestine	intestine
15	chr2:31275000-31281000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:31275200-31275400	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr2:31275200-31275600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:31275200-31275600	Enhancers	Lung	lung
19	chr2:31275200-31277400	Weak transcription	Duodenum Mucosa	Duodenum

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