Variant report

Variant	rs1862975
Chromosome Location	chr2:31326432-31326433
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:31326028..31328908-chr2:31329541..31331978,2	K562	blood:
2	chr2:31321179..31323950-chr2:31325579..31327165,2	MCF-7	breast:
3	chr1:121484709..121486314-chr2:31325601..31327583,2	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10166079	0.85[EUR][1000 genomes]
rs10175305	0.89[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10188244	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.96[LWK][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10189705	0.90[EUR][1000 genomes]
rs10196495	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10205657	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1075688	0.90[EUR][1000 genomes]
rs1075689	0.86[EUR][1000 genomes]
rs11124239	0.86[EUR][1000 genomes]
rs11124240	0.88[CEU][hapmap];0.93[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11674713	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs11686425	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs11692265	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs11888670	0.85[CEU][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap];0.84[TSI][hapmap];0.88[EUR][1000 genomes]
rs12712310	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.87[JPT][hapmap];0.96[MEX][hapmap];0.96[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12712311	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.87[JPT][hapmap];0.96[MEX][hapmap];0.96[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12996218	1.00[ASW][hapmap];0.89[CEU][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.96[LWK][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13003016	0.87[EUR][1000 genomes]
rs13029054	0.93[CHB][hapmap];0.81[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1862977	0.90[EUR][1000 genomes]
rs1862978	0.82[CEU][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]
rs1862979	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs1862981	0.96[CEU][hapmap];0.86[GIH][hapmap];0.96[TSI][hapmap];0.90[EUR][1000 genomes]
rs1991103	0.82[TSI][hapmap];0.90[EUR][1000 genomes]
rs1991104	0.92[CEU][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes]
rs2098787	0.85[CEU][hapmap];0.82[GIH][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs2161832	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2161833	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2194467	0.89[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2194468	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2194469	0.89[CEU][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.87[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2365192	0.89[CEU][hapmap];0.82[GIH][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs2365196	0.86[EUR][1000 genomes]
rs2365197	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2365199	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2365200	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.96[MEX][hapmap];0.96[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2365201	0.89[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2365205	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2365206	0.83[ASW][hapmap];1.00[CEU][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35285211	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4951965	0.85[CEU][hapmap];0.90[EUR][1000 genomes]
rs6543598	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs6543599	0.89[CEU][hapmap];0.82[GIH][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes]
rs6543600	0.90[EUR][1000 genomes]
rs6543601	0.83[EUR][1000 genomes]
rs6543602	0.82[EUR][1000 genomes]
rs6709814	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6713789	1.00[CEU][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs6718085	0.85[EUR][1000 genomes]
rs6718097	0.86[EUR][1000 genomes]
rs6722828	0.85[EUR][1000 genomes]
rs6729079	0.89[CEU][hapmap];0.91[GIH][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes]
rs6732067	0.82[CEU][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes]
rs6743541	0.92[CHB][hapmap];0.85[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6753457	0.88[EUR][1000 genomes]
rs6760532	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6760971	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7565689	0.89[CEU][hapmap];0.83[GIH][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs7570822	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs7583033	0.83[ASW][hapmap];0.89[CEU][hapmap];0.89[GIH][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7583218	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7600547	0.91[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9973425	0.85[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
rs1862975	LBH	cis	lymphoblastoid	seeQTL

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	chr2:31325200-31327000	Enhancers	Primary neutrophils fromperipheralblood	blood

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