Variant report

Variant	rs2194464
Chromosome Location	chr2:31328651-31328652
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:31326028..31328908-chr2:31329541..31331978,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10490518	0.89[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10490519	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10865087	0.86[EUR][1000 genomes]
rs11124238	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11124241	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1122261	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11888670	0.80[MEX][hapmap]
rs12463945	0.88[CEU][hapmap]
rs12471972	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12611788	0.92[JPT][hapmap]
rs12621308	0.85[JPT][hapmap]
rs12993947	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12994752	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs12998805	0.84[JPT][hapmap]
rs13003016	0.91[CHB][hapmap]
rs13006348	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13021484	0.82[TSI][hapmap]
rs13023792	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs13035341	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1862976	0.88[CEU][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs1991105	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs2113490	0.92[CEU][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs2194465	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2194470	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2216829	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2365193	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs2365195	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2365204	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2886303	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2886304	0.84[JPT][hapmap]
rs3919588	0.89[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4337517	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs4630806	0.81[CEU][hapmap];0.82[TSI][hapmap]
rs6543601	0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6543602	0.81[EUR][1000 genomes]
rs6708428	0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6748774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.83[JPT][hapmap];0.84[LWK][hapmap];0.96[MEX][hapmap];0.95[MKK][hapmap];0.98[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6760378	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs749709	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs749710	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs749711	0.88[CEU][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs7565904	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7582458	0.84[JPT][hapmap]
rs7586148	0.83[EUR][1000 genomes]
rs7592634	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs880618	0.92[CEU][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2194464	SRD5A2	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31307400-31331600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr2:31310600-31346800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:31320600-31337800	Weak transcription	Primary B cells from cord blood	blood
4	chr2:31321000-31330800	Weak transcription	Psoas Muscle	Psoas
5	chr2:31321400-31332000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:31321600-31330400	Weak transcription	NHEK	skin
7	chr2:31328400-31335200	Enhancers	Primary neutrophils fromperipheralblood	blood

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