Variant report

Variant	rs206857
Chromosome Location	chr2:31619101-31619102
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:31619044..31622000-chr2:31622543..31624849,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10175754	0.96[GIH][hapmap];0.88[MEX][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10199855	0.82[EUR][1000 genomes]
rs12712316	0.87[ASN][1000 genomes]
rs13418515	0.81[CEU][hapmap];0.96[GIH][hapmap];0.89[MEX][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13431382	0.96[GIH][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs206797	0.86[JPT][hapmap]
rs206799	0.86[JPT][hapmap]
rs206802	0.82[CHB][hapmap]
rs206803	0.82[CHB][hapmap]
rs206804	0.82[CHB][hapmap]
rs206805	0.82[CHB][hapmap]
rs206810	0.86[JPT][hapmap]
rs206850	0.82[ASN][1000 genomes]
rs206856	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs473935	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs513311	0.86[JPT][hapmap]
rs528551	1.00[JPT][hapmap]
rs561525	0.85[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs71444496	0.87[ASN][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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs206857	DPY30	cis	parietal	SCAN
rs206857	NRBP1	cis	cerebellum	SCAN

Chromatin state (count:23 , 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	chr2:31609400-31621200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:31609400-31623800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:31611800-31624000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:31613400-31620000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:31613600-31620200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:31614400-31619600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:31616000-31620200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:31617200-31619800	Strong transcription	HMEC	breast
14	chr2:31617800-31619200	Strong transcription	Liver	Liver
15	chr2:31617800-31624200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:31618000-31625400	Strong transcription	Fetal Intestine Large	intestine
17	chr2:31618000-31627000	Strong transcription	Fetal Intestine Small	intestine
18	chr2:31618600-31619200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:31618800-31619400	Weak transcription	NHDF-Ad	bronchial
20	chr2:31619000-31619800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:31619000-31620000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:31619000-31620000	Weak transcription	NHEK	skin
23	chr2:31619000-31624400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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