Variant report

Variant	rs12992642
Chromosome Location	chr2:31274605-31274606
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10194342	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10205584	0.93[ASN][1000 genomes]
rs10205676	0.92[ASN][1000 genomes]
rs11124237	0.95[ASN][1000 genomes]
rs11688387	0.85[ASN][1000 genomes]
rs11694302	0.93[ASN][1000 genomes]
rs11886970	0.93[ASN][1000 genomes]
rs11891469	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11898944	0.93[ASN][1000 genomes]
rs12617279	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12619377	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12621518	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12621813	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12712302	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12712303	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12712304	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12712305	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12712306	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13009298	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1862983	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4268964	0.92[ASN][1000 genomes]
rs4951961	0.93[ASN][1000 genomes]
rs4952040	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4952043	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4952045	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58091345	0.91[ASN][1000 genomes]
rs61456515	0.88[ASN][1000 genomes]
rs62140633	0.93[ASN][1000 genomes]
rs6705225	0.83[ASN][1000 genomes]
rs6726690	0.93[ASN][1000 genomes]
rs6730186	0.93[ASN][1000 genomes]
rs6734015	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72793304	0.93[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:17 , 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	chr2:31273400-31275200	Weak transcription	Lung	lung
7	chr2:31273400-31275600	Enhancers	Primary hematopoietic stem cells	blood
8	chr2:31273400-31276800	Weak transcription	Pancreas	Pancrea
9	chr2:31273600-31275000	Enhancers	Fetal Intestine Large	intestine
10	chr2:31273800-31275200	Enhancers	Duodenum Mucosa	Duodenum
11	chr2:31274000-31275400	Enhancers	Spleen	Spleen
12	chr2:31274200-31275600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:31274200-31275600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:31274200-31277000	Weak transcription	Fetal Kidney	kidney
15	chr2:31274400-31275200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:31274600-31275200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr2:31274600-31275600	Enhancers	Primary B cells from cord blood	blood

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