Variant report

Variant	rs7596372
Chromosome Location	chr2:161034917-161034918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:161033297..161035700-chr2:161053449..161055429,2	MCF-7	breast:
2	chr2:161034766..161037717-chr2:161047419..161049441,2	MCF-7	breast:
3	chr2:161029423..161031683-chr2:161033296..161035758,2	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10171644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10179610	0.82[GIH][hapmap]
rs10184041	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10193774	0.82[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10197183	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10202454	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap]
rs10205184	0.83[ASN][1000 genomes]
rs10205374	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10206615	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10497208	0.93[YRI][hapmap]
rs10929971	0.93[YRI][hapmap]
rs1156821	0.82[GIH][hapmap]
rs11896610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11897691	0.93[YRI][hapmap]
rs11902965	0.93[YRI][hapmap]
rs12478021	1.00[CEU][hapmap]
rs12616323	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13027372	0.93[YRI][hapmap]
rs13394453	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs13401953	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13403826	0.82[ASW][hapmap];0.96[GIH][hapmap];0.89[YRI][hapmap]
rs13413256	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13413895	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13426637	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1350313	0.84[ASN][1000 genomes]
rs1457235	0.82[YRI][hapmap]
rs1457238	0.93[YRI][hapmap]
rs1457239	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16844824	0.82[YRI][hapmap]
rs16844830	0.95[EUR][1000 genomes]
rs1902622	0.93[YRI][hapmap]
rs2124971	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2168672	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290706	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3755547	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4473342	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[EUR][1000 genomes]
rs4630719	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56011055	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57594443	0.84[AFR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6432600	0.93[YRI][hapmap]
rs6432601	0.92[YRI][hapmap]
rs6432602	0.93[YRI][hapmap]
rs6432609	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432611	0.88[ASN][1000 genomes]
rs6730023	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6747699	0.89[YRI][hapmap]
rs6758074	0.96[YRI][hapmap]
rs72994790	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7563574	0.93[YRI][hapmap]
rs7563802	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7572338	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7579481	0.93[YRI][hapmap]
rs7584446	0.93[YRI][hapmap]
rs7586660	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[EUR][1000 genomes]
rs7588696	0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.83[MKK][hapmap];0.90[ASN][1000 genomes]
rs7590004	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7599127	0.84[EUR][1000 genomes]
rs7603920	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7608557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs897832	0.92[YRI][hapmap]
rs9973856	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459929	chr2:160963603-161079435	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv583497	chr2:160963603-161079435	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875346	chr2:160965335-161044155	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1001502	chr2:160967864-161079450	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:160994400-161037400	Weak transcription	Pancreas	Pancrea
2	chr2:160994600-161038000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:161005600-161037400	Weak transcription	Esophagus	oesophagus
4	chr2:161015000-161037400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:161023000-161037000	Weak transcription	Stomach Mucosa	stomach
6	chr2:161024000-161051000	Weak transcription	HSMMtube	muscle
7	chr2:161025600-161051000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:161026400-161037800	Weak transcription	Fetal Intestine Small	intestine
9	chr2:161026800-161037400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:161027200-161051400	Weak transcription	Gastric	stomach
11	chr2:161028800-161037400	Weak transcription	Fetal Intestine Large	intestine
12	chr2:161029200-161037200	Weak transcription	Lung	lung
13	chr2:161029200-161037200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:161029200-161037400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr2:161029200-161051000	Weak transcription	HSMM	muscle
16	chr2:161029400-161063200	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:161030200-161035400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:161032200-161037000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:161033200-161035600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:161033400-161037400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:161034400-161035600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:161034600-161035000	ZNF genes & repeats	NHEK	skin
23	chr2:161034600-161035400	Strong transcription	HMEC	breast
24	chr2:161034600-161035600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:161034800-161037000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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