Variant report

Variant	rs206799
Chromosome Location	chr2:31627106-31627107
allele	C/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:20)

rs_ID	r²[population]
rs206797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs206801	0.97[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs206802	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs206809	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs206810	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs206813	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs206814	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs206815	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs206817	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs206818	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs206819	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs206828	0.86[ASN][1000 genomes]
rs206833	0.83[ASN][1000 genomes]
rs206850	0.83[AMR][1000 genomes]
rs206856	1.00[CEU][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes]
rs206857	0.86[JPT][hapmap]
rs473935	1.00[CEU][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes]
rs513311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs528551	1.00[CEU][hapmap]
rs561525	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:29 , 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	chr2:31620000-31627600	Strong transcription	Duodenum Mucosa	Duodenum
7	chr2:31620800-31627400	Strong transcription	Liver	Liver
8	chr2:31623400-31628000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:31625400-31627600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:31625400-31627600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:31625400-31628400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:31625600-31627600	Enhancers	A549	lung
13	chr2:31625600-31627800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:31625800-31627400	Genic enhancers	NHEK	skin
15	chr2:31626000-31627400	Weak transcription	NH-A	brain
16	chr2:31626200-31627200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:31626200-31628400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:31626200-31630200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:31626200-31634800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:31626400-31627400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:31626400-31633600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:31626400-31634600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:31626600-31628600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr2:31626800-31628800	Strong transcription	HMEC	breast
25	chr2:31627000-31627200	Enhancers	NHLF	lung
26	chr2:31627000-31627400	Enhancers	NHDF-Ad	bronchial
27	chr2:31627000-31627800	Enhancers	Osteobl	bone
28	chr2:31627000-31628800	Genic enhancers	Fetal Intestine Large	intestine
29	chr2:31627000-31629600	Genic enhancers	Fetal Intestine Small	intestine

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