Variant report

Variant	rs2124971
Chromosome Location	chr2:161051853-161051854
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:161044345..161047036-chr2:161051765..161053721,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10171644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179610	0.82[GIH][hapmap]
rs10184041	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10193774	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10197183	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10202454	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap]
rs10205184	0.81[ASN][1000 genomes]
rs10205374	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10206615	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10497208	0.92[YRI][hapmap]
rs10929971	0.92[YRI][hapmap]
rs1156821	0.82[GIH][hapmap]
rs11896610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11897691	0.92[YRI][hapmap]
rs11902965	0.92[YRI][hapmap]
rs12478021	1.00[CEU][hapmap]
rs12616323	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13027372	0.92[YRI][hapmap]
rs13394453	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13401953	0.95[EUR][1000 genomes]
rs13403826	0.96[GIH][hapmap];0.82[YRI][hapmap]
rs13413256	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13413895	0.95[EUR][1000 genomes]
rs13426637	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1350313	0.85[ASN][1000 genomes]
rs1457235	0.82[YRI][hapmap]
rs1457238	0.92[YRI][hapmap]
rs1457239	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16844824	0.82[YRI][hapmap]
rs16844830	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1902622	0.92[YRI][hapmap]
rs2168672	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2290706	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2925755	0.80[ASN][1000 genomes]
rs3755547	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.93[TSI][hapmap];0.93[YRI][hapmap];0.95[EUR][1000 genomes]
rs4473342	1.00[CEU][hapmap];0.96[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4630719	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56011055	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57594443	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6432600	0.92[YRI][hapmap]
rs6432601	0.92[YRI][hapmap]
rs6432602	0.92[YRI][hapmap]
rs6432609	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6432611	0.90[ASN][1000 genomes]
rs6730023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6747699	0.82[YRI][hapmap]
rs6758074	0.96[YRI][hapmap]
rs72994790	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7563574	0.92[YRI][hapmap]
rs7563802	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7572338	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7579481	0.92[YRI][hapmap]
rs7584446	0.92[YRI][hapmap]
rs7586660	1.00[CEU][hapmap];0.96[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7588696	0.91[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];0.87[MKK][hapmap];0.83[YRI][hapmap];0.92[ASN][1000 genomes]
rs7590004	0.80[AFR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7596372	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]
rs7599127	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7603920	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7608557	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs897832	0.92[YRI][hapmap]
rs9973856	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:161029400-161063200	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:161047200-161058800	Weak transcription	Psoas Muscle	Psoas
3	chr2:161047400-161053200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:161048600-161061600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:161049000-161053600	Genic enhancers	NHEK	skin
6	chr2:161049600-161053800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:161049600-161055600	Weak transcription	Fetal Stomach	stomach
8	chr2:161049800-161055200	Weak transcription	Colonic Mucosa	Colon
9	chr2:161050000-161052200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:161050000-161052200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:161050400-161053200	Genic enhancers	HMEC	breast
12	chr2:161050400-161061200	Weak transcription	Esophagus	oesophagus
13	chr2:161051000-161052000	Strong transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:161051000-161052000	Strong transcription	HSMM	muscle
15	chr2:161051000-161052200	Strong transcription	Fetal Intestine Large	intestine
16	chr2:161051000-161052200	Enhancers	Dnd41	blood
17	chr2:161051000-161052400	Genic enhancers	Placenta Amnion	Placenta Amnion
18	chr2:161051000-161052800	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr2:161051000-161052800	Strong transcription	HSMMtube	muscle
20	chr2:161051200-161052400	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr2:161051200-161052800	Strong transcription	Duodenum Mucosa	Duodenum
22	chr2:161051400-161052000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:161051400-161052200	Strong transcription	Fetal Intestine Small	intestine
24	chr2:161051400-161052200	Strong transcription	Gastric	stomach
25	chr2:161051800-161052200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:161051800-161053800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr2:161051800-161054200	Weak transcription	Stomach Mucosa	stomach
28	chr2:161051800-161056600	Weak transcription	Pancreas	Pancrea
29	chr2:161051800-161064600	Weak transcription	Lung	lung

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