Variant report

Variant	rs6732067
Chromosome Location	chr2:31293743-31293744
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:31293052..31293781-chr2:31361041..31361907,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158089	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10166079	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10175305	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs10188244	0.82[CEU][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes]
rs10189705	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10196495	0.80[EUR][1000 genomes]
rs10205657	0.88[EUR][1000 genomes]
rs1075688	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1075689	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11124239	0.88[EUR][1000 genomes]
rs11124240	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs11674713	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11686425	0.92[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11692265	0.92[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11888670	0.81[CEU][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs12712310	0.82[CEU][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes]
rs12712311	0.82[CEU][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs12996218	0.92[CEU][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]
rs13003016	0.88[EUR][1000 genomes]
rs13029054	0.80[CEU][hapmap];0.90[EUR][1000 genomes]
rs1862975	0.82[CEU][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes]
rs1862977	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1862978	0.93[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1862979	0.92[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1862981	0.91[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1991103	0.93[ASW][hapmap];0.85[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.93[TSI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1991104	0.92[ASW][hapmap];0.89[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1991105	0.82[CEU][hapmap]
rs2098787	0.89[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2113490	0.82[CEU][hapmap]
rs2161832	0.90[EUR][1000 genomes]
rs2161833	0.90[EUR][1000 genomes]
rs2194467	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs2194468	0.92[EUR][1000 genomes]
rs2194469	0.92[CEU][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs2216829	0.82[CEU][hapmap]
rs2365192	0.92[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2365193	0.82[CEU][hapmap]
rs2365196	0.88[EUR][1000 genomes]
rs2365197	0.82[CEU][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs2365199	0.84[EUR][1000 genomes]
rs2365200	0.82[CEU][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs2365201	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs2365205	0.88[EUR][1000 genomes]
rs2365206	0.82[CEU][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs35285211	0.89[EUR][1000 genomes]
rs4337517	0.81[CEU][hapmap]
rs4951965	0.89[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6543598	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6543599	0.92[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6543600	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6543602	0.80[EUR][1000 genomes]
rs6709814	0.92[EUR][1000 genomes]
rs6713789	0.82[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6718085	0.88[EUR][1000 genomes]
rs6718097	0.88[EUR][1000 genomes]
rs6722828	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6729079	0.92[CEU][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs6743541	0.82[CEU][hapmap];0.86[EUR][1000 genomes]
rs6753457	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6760532	0.92[EUR][1000 genomes]
rs6760971	0.92[EUR][1000 genomes]
rs7565689	0.84[ASW][hapmap];0.92[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7570822	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7583033	0.92[CEU][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs7583218	0.90[EUR][1000 genomes]
rs7586148	0.81[CEU][hapmap]
rs7592634	0.82[CEU][hapmap]
rs7600547	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs880618	0.81[CEU][hapmap]
rs9973425	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][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

No data

Chromatin state (count:19 , 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	chr2:31284000-31301800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:31287200-31297000	Weak transcription	Aorta	Aorta
5	chr2:31288800-31294400	Weak transcription	Esophagus	oesophagus
6	chr2:31288800-31305000	Weak transcription	Right Atrium	heart
7	chr2:31288800-31308400	Weak transcription	Spleen	Spleen
8	chr2:31291000-31298400	Weak transcription	Brain Germinal Matrix	brain
9	chr2:31292800-31293800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:31292800-31294200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:31293000-31294400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:31293000-31294400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:31293000-31294400	Enhancers	HMEC	breast
14	chr2:31293000-31294600	Enhancers	NHEK	skin
15	chr2:31293000-31294800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:31293000-31298000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:31293400-31293800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:31293400-31294000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:31293400-31294200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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