Variant report

Variant	rs206813
Chromosome Location	chr2:31638595-31638596
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs206797	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs206799	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs206801	0.88[ASN][1000 genomes]
rs206802	0.85[ASN][1000 genomes]
rs206809	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs206810	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs206814	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs206815	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs206817	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs206818	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs206819	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs206828	0.83[ASN][1000 genomes]
rs206833	0.80[ASN][1000 genomes]
rs513311	1.00[EUR][1000 genomes];0.96[ASN][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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31598400-31639000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:31634600-31639200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:31636200-31638800	Enhancers	NHDF-Ad	bronchial
4	chr2:31637200-31638800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:31637200-31638800	Enhancers	Gastric	stomach
6	chr2:31637200-31639200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:31637400-31639600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:31637600-31639400	Enhancers	NHLF	lung
9	chr2:31637600-31639600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:31637600-31640000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:31637800-31639000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:31637800-31639200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:31638000-31638800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:31638000-31639000	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr2:31638000-31639000	Enhancers	Osteobl	bone
16	chr2:31638000-31639600	Weak transcription	Esophagus	oesophagus
17	chr2:31638000-31639800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:31638200-31638600	Weak transcription	Placenta	Placenta
19	chr2:31638200-31638600	Enhancers	A549	lung
20	chr2:31638200-31638800	Enhancers	Liver	Liver
21	chr2:31638200-31638800	Enhancers	NHEK	skin
22	chr2:31638200-31639200	Enhancers	Duodenum Mucosa	Duodenum
23	chr2:31638200-31639200	Enhancers	Fetal Intestine Large	intestine
24	chr2:31638200-31639200	Enhancers	Fetal Intestine Small	intestine
25	chr2:31638200-31639400	Enhancers	HMEC	breast
26	chr2:31638200-31639800	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr2:31638200-31639800	Enhancers	Stomach Mucosa	stomach
28	chr2:31638200-31640000	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr2:31638400-31638600	Enhancers	Small Intestine	intestine
30	chr2:31638400-31639600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:31638400-31639800	Enhancers	Colonic Mucosa	Colon
32	chr2:31638400-31643800	Weak transcription	Hela-S3	cervix

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