Variant report

Variant	rs2290706
Chromosome Location	chr2:161026336-161026337
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:161024689..161027052-chr2:161081690..161084385,4	MCF-7	breast:
2	chr2:161022710..161025666-chr2:161026068..161028687,2	MCF-7	breast:
3	chr2:161025898..161028586-chr2:161060919..161062605,2	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];0.89[YRI][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10179610	0.82[GIH][hapmap]
rs10184041	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10193774	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10197183	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];0.96[ASN][1000 genomes]
rs10202454	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap]
rs10205184	0.82[ASN][1000 genomes]
rs10205374	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10206615	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[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];0.97[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];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1350313	0.82[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];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16844824	0.82[YRI][hapmap]
rs16844830	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1902622	0.92[YRI][hapmap]
rs2124971	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]
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];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3755547	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[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	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57594443	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6432600	0.92[YRI][hapmap]
rs6432601	0.92[YRI][hapmap]
rs6432602	0.92[YRI][hapmap]
rs6432609	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6432611	0.86[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];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6747699	0.82[YRI][hapmap]
rs6758074	0.96[YRI][hapmap]
rs72994790	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7563574	0.92[YRI][hapmap]
rs7563802	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7572338	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[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];0.95[CHD][hapmap];0.95[JPT][hapmap];0.81[MKK][hapmap];0.83[YRI][hapmap];0.89[ASN][1000 genomes]
rs7590004	0.87[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7596372	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]
rs7599127	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7603920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7608557	0.88[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: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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:160959400-161032800	Weak transcription	Psoas Muscle	Psoas
2	chr2:160994400-161037400	Weak transcription	Pancreas	Pancrea
3	chr2:160994600-161038000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:161002600-161028400	Weak transcription	Lung	lung
5	chr2:161005600-161037400	Weak transcription	Esophagus	oesophagus
6	chr2:161014800-161028200	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:161015000-161037400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:161015200-161026800	Weak transcription	HSMM	muscle
9	chr2:161016000-161027200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:161016000-161030800	Strong transcription	HMEC	breast
11	chr2:161016200-161029800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:161016200-161030800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:161016400-161030200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:161020400-161027000	Enhancers	Fetal Kidney	kidney
15	chr2:161020800-161028200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:161021400-161026400	Enhancers	Fetal Intestine Small	intestine
17	chr2:161021400-161029400	Strong transcription	Placenta Amnion	Placenta Amnion
18	chr2:161022200-161030800	Strong transcription	NHEK	skin
19	chr2:161022400-161028800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:161023000-161037000	Weak transcription	Stomach Mucosa	stomach
21	chr2:161024000-161051000	Weak transcription	HSMMtube	muscle
22	chr2:161024200-161026600	Enhancers	Fetal Intestine Large	intestine
23	chr2:161024600-161029200	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:161024800-161026400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:161025400-161026400	Enhancers	A549	lung
26	chr2:161025400-161029800	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:161025600-161051000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr2:161026000-161026800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr2:161026200-161028800	Weak transcription	Duodenum Mucosa	Duodenum

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