Variant report

Variant	rs206808
Chromosome Location	chr2:31634130-31634131
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1033689	0.80[EUR][1000 genomes]
rs11674100	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11679875	0.82[EUR][1000 genomes]
rs12468955	0.80[EUR][1000 genomes]
rs17545483	0.80[EUR][1000 genomes]
rs17604831	0.80[EUR][1000 genomes]
rs1884723	0.82[EUR][1000 genomes]
rs1978639	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs206806	0.93[ASN][1000 genomes]
rs206811	0.87[ASN][1000 genomes]
rs206812	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs206816	0.93[ASN][1000 genomes]
rs206827	0.87[ASN][1000 genomes]
rs2163058	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2365772	0.83[EUR][1000 genomes]
rs4952236	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4952263	0.85[EUR][1000 genomes]
rs58071748	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59770035	0.80[AMR][1000 genomes]
rs59964343	0.85[AMR][1000 genomes]
rs61706447	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs66492775	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs67830899	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72790682	0.82[AMR][1000 genomes]
rs7595578	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7602067	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949028	chr2:31502801-31665108	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv456030	chr2:31598823-31820256	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv456041	chr2:31598823-31820256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv581269	chr2:31598823-31820256	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv998853	chr2:31601455-31858961	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1005565	chr2:31603134-31868877	Genic enhancers Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1007179	chr2:31616112-31835410	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1005032	chr2:31616112-31867450	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1013891	chr2:31629179-31854283	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv535612	chr2:31629179-31854283	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31548000-31634600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:31574600-31636600	Weak transcription	Colonic Mucosa	Colon
3	chr2:31598400-31639000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:31599600-31636600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:31626200-31634800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:31626400-31634600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:31627400-31634600	Weak transcription	NHDF-Ad	bronchial
8	chr2:31628000-31634600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:31629600-31634400	Weak transcription	NHEK	skin
10	chr2:31629800-31634600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:31629800-31634600	Weak transcription	A549	lung
12	chr2:31630400-31634600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:31630600-31634400	Weak transcription	Fetal Intestine Large	intestine
14	chr2:31631000-31634600	Weak transcription	Liver	Liver
15	chr2:31631600-31634400	Weak transcription	HMEC	breast
16	chr2:31632000-31634600	Weak transcription	Fetal Intestine Small	intestine
17	chr2:31633200-31634600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:31633800-31635600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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