Variant report

Variant	rs2113490
Chromosome Location	chr2:31304147-31304148
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10490518	0.81[CEU][hapmap];0.89[EUR][1000 genomes]
rs10490519	0.92[CEU][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs10865087	0.93[EUR][1000 genomes]
rs11124238	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs11124241	0.89[EUR][1000 genomes]
rs1122261	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs12463945	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12466133	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12471972	0.87[EUR][1000 genomes]
rs12993947	0.90[EUR][1000 genomes]
rs12994752	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13006348	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs13021484	0.85[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13023792	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13035341	0.96[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs1862976	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1862978	0.82[CEU][hapmap];0.80[MEX][hapmap]
rs1862981	0.81[CHD][hapmap]
rs1991105	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2194464	0.92[CEU][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs2194465	0.93[EUR][1000 genomes]
rs2194470	0.88[EUR][1000 genomes]
rs2194471	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2216829	1.00[CEU][hapmap];0.89[GIH][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs2365192	0.84[CHD][hapmap]
rs2365193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2365195	0.92[CEU][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes]
rs2365204	0.84[EUR][1000 genomes]
rs2886303	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs3919588	0.81[CEU][hapmap];0.89[EUR][1000 genomes]
rs4337517	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4630806	0.83[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6543601	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs6543602	0.83[EUR][1000 genomes]
rs6708428	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs6732067	0.82[CEU][hapmap]
rs6748774	0.92[CEU][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]
rs6760378	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs749709	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs749710	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs749711	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7565904	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs7592634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs880618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv961714	chr2:31298724-31305343	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2113490	SRD5A2	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31278200-31310800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:31278800-31306800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:31288800-31305000	Weak transcription	Right Atrium	heart
4	chr2:31288800-31308400	Weak transcription	Spleen	Spleen
5	chr2:31295600-31310200	Weak transcription	Primary B cells from cord blood	blood
6	chr2:31297400-31316400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:31299400-31304600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:31301000-31304600	Weak transcription	Fetal Kidney	kidney
9	chr2:31301200-31304800	Weak transcription	Fetal Lung	lung
10	chr2:31301200-31306600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:31301600-31304400	Enhancers	A549	lung
12	chr2:31301800-31307200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:31301800-31307400	Weak transcription	Fetal Brain Female	brain
14	chr2:31302000-31304600	Weak transcription	NHEK	skin
15	chr2:31302000-31304800	Weak transcription	HMEC	breast
16	chr2:31302000-31321400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:31302200-31304600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:31302600-31325200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr2:31303000-31304800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:31303000-31304800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:31303000-31307400	Weak transcription	Esophagus	oesophagus
22	chr2:31303800-31304200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:31303800-31304200	Enhancers	Fetal Intestine Large	intestine
24	chr2:31303800-31305000	Enhancers	NHDF-Ad	bronchial
25	chr2:31304000-31305200	Enhancers	Fetal Heart	heart
26	chr2:31304000-31309200	Enhancers	Fetal Intestine Small	intestine

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