Variant report

Variant	rs206805
Chromosome Location	chr2:31630867-31630868
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1042578	0.83[JPT][hapmap]
rs11690596	0.83[JPT][hapmap]
rs13016636	0.90[ASN][1000 genomes]
rs13395648	0.83[JPT][hapmap]
rs17011453	0.83[JPT][hapmap]
rs1884722	0.83[JPT][hapmap]
rs206798	1.00[ASW][hapmap];0.86[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];0.84[LWK][hapmap];0.89[MEX][hapmap];0.82[MKK][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs206800	0.90[AFR][1000 genomes]
rs206802	0.86[CEU][hapmap];0.87[YRI][hapmap]
rs206803	0.86[CEU][hapmap];0.87[YRI][hapmap]
rs206804	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs206834	0.93[ASN][1000 genomes]
rs206836	0.93[ASN][1000 genomes]
rs206838	0.93[ASN][1000 genomes]
rs206841	0.90[ASN][1000 genomes]
rs206844	0.90[ASN][1000 genomes]
rs206857	0.82[CHB][hapmap]
rs3731586	0.83[JPT][hapmap]
rs3754838	0.83[JPT][hapmap]
rs472445	0.87[ASN][1000 genomes]
rs494852	1.00[ASW][hapmap];0.86[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap];0.89[MEX][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs533833	0.87[ASN][1000 genomes]
rs541263	0.85[ASN][1000 genomes]
rs6543634	0.83[JPT][hapmap]
rs7562326	0.83[JPT][hapmap]
rs7594951	0.83[JPT][hapmap]
rs9332975	0.83[JPT][hapmap]

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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs206805	EHD3	cis	cerebellum	SCAN
rs206805	EIF2B4	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31548000-31634600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:31565200-31633000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:31574600-31636600	Weak transcription	Colonic Mucosa	Colon
4	chr2:31598400-31639000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:31599600-31636600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:31626200-31634800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:31626400-31633600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:31626400-31634600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:31627400-31634600	Weak transcription	NHDF-Ad	bronchial
10	chr2:31628000-31634600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:31629600-31632000	Enhancers	Fetal Intestine Small	intestine
12	chr2:31629600-31634400	Weak transcription	NHEK	skin
13	chr2:31629800-31634600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:31629800-31634600	Weak transcription	A549	lung
15	chr2:31630000-31631000	Enhancers	Liver	Liver
16	chr2:31630200-31632800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:31630400-31634600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr2:31630600-31631600	Strong transcription	HMEC	breast
19	chr2:31630600-31634400	Weak transcription	Fetal Intestine Large	intestine

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