Variant report

Variant	rs2971211
Chromosome Location	chr3:120020619-120020620
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	chr3:120018316..120022593-chr3:120022628..120028274,5	MCF-7	breast:
2	chr3:120020374..120022764-chr3:120067008..120069346,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240661	Chromatin interaction
ENSG00000240882	Chromatin interaction
ENSG00000163428	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10049256	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1085615	0.88[EUR][1000 genomes]
rs1085620	0.95[ASN][1000 genomes]
rs1085622	0.95[ASN][1000 genomes]
rs1085624	0.95[ASN][1000 genomes]
rs10934512	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10934515	0.81[ASN][1000 genomes]
rs10934516	0.81[ASN][1000 genomes]
rs10934517	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12152218	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs13314898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1352458	0.81[ASN][1000 genomes]
rs1388755	0.84[ASN][1000 genomes]
rs1488761	0.81[ASN][1000 genomes]
rs1488764	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1492271	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs16831033	0.86[CHB][hapmap]
rs16831036	0.86[CHB][hapmap]
rs1907681	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2035671	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2130000	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2171598	0.81[ASN][1000 genomes]
rs2176093	1.00[CEU][hapmap]
rs2319541	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2319542	0.81[ASN][1000 genomes]
rs2319543	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2319674	0.83[EUR][1000 genomes]
rs2874022	1.00[JPT][hapmap]
rs2874023	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2943755	1.00[ASN][1000 genomes]
rs2943757	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs2971213	0.95[ASN][1000 genomes]
rs4263318	0.95[ASN][1000 genomes]
rs4314205	0.95[ASN][1000 genomes]
rs4488869	1.00[JPT][hapmap]
rs4676809	0.81[ASN][1000 genomes]
rs4676822	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4676832	0.84[ASN][1000 genomes]
rs6438559	1.00[JPT][hapmap]
rs6438564	1.00[JPT][hapmap]
rs6438567	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6438577	0.85[EUR][1000 genomes]
rs6764549	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6769988	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs6772226	0.95[ASN][1000 genomes]
rs6776122	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6777971	0.84[ASN][1000 genomes]
rs6787458	0.84[ASN][1000 genomes]
rs6794478	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs6803206	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs6803611	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6805050	0.81[ASN][1000 genomes]
rs6806659	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs701988	0.85[EUR][1000 genomes]
rs7637828	0.81[ASN][1000 genomes]
rs7641838	0.81[ASN][1000 genomes]
rs7642171	0.81[ASN][1000 genomes]
rs7653263	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7653396	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs787185	0.95[ASN][1000 genomes]
rs787188	0.95[EUR][1000 genomes]
rs787191	0.88[EUR][1000 genomes]
rs787194	0.88[EUR][1000 genomes]
rs787195	0.88[EUR][1000 genomes]
rs787198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs787209	0.88[EUR][1000 genomes]
rs787211	0.95[ASN][1000 genomes]
rs796824	0.95[ASN][1000 genomes]
rs813697	0.95[ASN][1000 genomes]
rs814182	0.95[ASN][1000 genomes]
rs902790	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs902791	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs902792	0.81[ASN][1000 genomes]
rs902794	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs902795	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs923726	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs923727	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs923728	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9289142	0.81[ASN][1000 genomes]
rs9289143	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9289145	1.00[JPT][hapmap]
rs979682	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9811483	0.84[ASN][1000 genomes]
rs9813834	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9817398	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs9822269	0.85[EUR][1000 genomes]
rs9822672	0.85[EUR][1000 genomes]
rs9841122	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9841303	1.00[JPT][hapmap]
rs9842302	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9853082	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9857123	0.81[ASN][1000 genomes]
rs9858566	0.81[ASN][1000 genomes]
rs9868312	0.81[ASN][1000 genomes]
rs9874631	1.00[CEU][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv877376	chr3:119824037-120119446	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv829698	chr3:119960869-120129126	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv1012127	chr3:120015620-120272893	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv536707	chr3:120015620-120272893	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120018800-120020800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr3:120019200-120021000	Weak transcription	Placenta	Placenta
3	chr3:120019400-120021000	Enhancers	Liver	Liver
4	chr3:120019800-120022800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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