Variant report

Variant	rs6730023
Chromosome Location	chr2:161019869-161019870
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:161019041..161021255-chr2:161080992..161082539,2	MCF-7	breast:
2	chr2:161017359..161019916-chr2:161083312..161086172,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10171644	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10179610	0.82[GIH][hapmap]
rs10184041	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10193774	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10197183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10202454	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap]
rs10205374	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10206615	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs1156821	0.82[GIH][hapmap]
rs11896610	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12478021	1.00[CEU][hapmap]
rs12616323	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13394453	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs13401953	0.95[EUR][1000 genomes]
rs13403826	0.96[GIH][hapmap]
rs13413256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13413895	0.95[EUR][1000 genomes]
rs13426637	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1457239	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];0.97[ASN][1000 genomes]
rs16844830	0.97[EUR][1000 genomes]
rs2124971	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]
rs2168672	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2290706	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]
rs3755547	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes]
rs4473342	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs4630719	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56011055	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57594443	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6432594	0.93[ASW][hapmap];0.86[LWK][hapmap]
rs6432609	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6432611	0.83[ASN][1000 genomes]
rs72994790	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7558296	0.80[AFR][1000 genomes]
rs7563802	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7569555	0.84[LWK][hapmap];0.96[YRI][hapmap]
rs7572338	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7586660	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs7588696	0.91[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs7590004	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7596372	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]
rs7599127	0.87[EUR][1000 genomes]
rs7603920	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7608557	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
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:32 , 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	chr2:160997200-161021800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:160999400-161022600	Weak transcription	Stomach Mucosa	stomach
6	chr2:161002600-161028400	Weak transcription	Lung	lung
7	chr2:161003000-161021400	Weak transcription	Fetal Intestine Small	intestine
8	chr2:161005600-161022200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:161005600-161026000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:161005600-161037400	Weak transcription	Esophagus	oesophagus
11	chr2:161005800-161021800	Weak transcription	Fetal Intestine Large	intestine
12	chr2:161014200-161023600	Weak transcription	Osteobl	bone
13	chr2:161014800-161022200	Weak transcription	Left Ventricle	heart
14	chr2:161014800-161023600	Weak transcription	HSMMtube	muscle
15	chr2:161014800-161028200	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:161015000-161022000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr2:161015000-161024600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:161015000-161037400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:161015200-161020400	Weak transcription	Fetal Kidney	kidney
20	chr2:161015200-161026800	Weak transcription	HSMM	muscle
21	chr2:161015400-161021400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:161015400-161025400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:161016000-161027200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:161016000-161030800	Strong transcription	HMEC	breast
25	chr2:161016200-161029800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:161016200-161030800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:161016400-161030200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:161017400-161020800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:161017600-161022200	Weak transcription	NHEK	skin
30	chr2:161018200-161024000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:161018600-161020800	Weak transcription	Ovary	ovary
32	chr2:161019800-161024200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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