Variant report

Variant	rs206810
Chromosome Location	chr2:31636217-31636218
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs206797	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs206799	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs206801	0.91[ASN][1000 genomes]
rs206802	0.82[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs206803	0.82[CHB][hapmap];1.00[CHD][hapmap];0.81[ASN][1000 genomes]
rs206809	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs206813	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs206814	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs206815	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs206817	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs206818	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs206819	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs206856	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[YRI][hapmap]
rs206857	0.86[JPT][hapmap]
rs473935	1.00[CEU][hapmap];0.86[JPT][hapmap];0.83[YRI][hapmap]
rs513311	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs528551	1.00[CEU][hapmap]
rs561525	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.83[YRI][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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31574600-31636600	Weak transcription	Colonic Mucosa	Colon
2	chr2:31598400-31639000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:31599600-31636600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:31634400-31638000	Active TSS	Fetal Intestine Large	intestine
5	chr2:31634600-31637200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr2:31634600-31637800	Active TSS	Duodenum Mucosa	Duodenum
7	chr2:31634600-31637800	Active TSS	Fetal Intestine Small	intestine
8	chr2:31634600-31639200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:31635000-31636600	Weak transcription	Placenta	Placenta
10	chr2:31635000-31637200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:31635600-31636600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:31635600-31636800	Flanking Active TSS	Liver	Liver
13	chr2:31635600-31638200	Flanking Active TSS	NHEK	skin
14	chr2:31635800-31636400	Enhancers	NHLF	lung
15	chr2:31635800-31636600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:31636200-31636400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:31636200-31636400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:31636200-31636400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:31636200-31636400	Enhancers	Hela-S3	cervix
20	chr2:31636200-31636600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:31636200-31636600	Enhancers	A549	lung
22	chr2:31636200-31636800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:31636200-31638200	Flanking Active TSS	HMEC	breast
24	chr2:31636200-31638800	Enhancers	NHDF-Ad	bronchial

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