Variant report

Variant	rs11614888
Chromosome Location	chr12:20951845-20951846
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:20639028..20639571-chr12:20951385..20952022,2	MCF-7	breast:
2	chr12:20798899..20799416-chr12:20951641..20952181,2	MCF-7	breast:
3	chr12:20798864..20799798-chr12:20951213..20952118,4	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10841596	1.00[ASN][1000 genomes]
rs10841618	0.85[EUR][1000 genomes]
rs10841647	1.00[EUR][1000 genomes]
rs11045369	1.00[ASN][1000 genomes]
rs11045403	1.00[ASN][1000 genomes]
rs11045419	1.00[ASN][1000 genomes]
rs11045444	0.85[EUR][1000 genomes]
rs11045449	0.85[EUR][1000 genomes]
rs11045450	0.85[EUR][1000 genomes]
rs11045498	1.00[EUR][1000 genomes]
rs11045507	0.95[EUR][1000 genomes]
rs11045508	0.95[EUR][1000 genomes]
rs11494687	1.00[ASN][1000 genomes]
rs11608908	1.00[ASN][1000 genomes]
rs11610333	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614998	0.98[EUR][1000 genomes]
rs12301524	1.00[EUR][1000 genomes]
rs12310705	0.85[EUR][1000 genomes]
rs12315003	1.00[EUR][1000 genomes]
rs12368457	1.00[ASN][1000 genomes]
rs12810377	1.00[ASN][1000 genomes]
rs12815346	1.00[ASN][1000 genomes]
rs12817904	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12818051	1.00[ASN][1000 genomes]
rs12818427	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12819654	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12820092	1.00[ASN][1000 genomes]
rs12822246	1.00[ASN][1000 genomes]
rs12824927	1.00[ASN][1000 genomes]
rs12825151	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12831149	1.00[ASN][1000 genomes]
rs12831914	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17617462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34100556	1.00[ASN][1000 genomes]
rs34274711	1.00[ASN][1000 genomes]
rs34671913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34953944	1.00[ASN][1000 genomes]
rs35069963	1.00[ASN][1000 genomes]
rs35209399	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35495502	1.00[ASN][1000 genomes]
rs35589427	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35628593	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36132437	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4373986	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71436838	1.00[ASN][1000 genomes]
rs71446716	1.00[ASN][1000 genomes]
rs71446727	1.00[ASN][1000 genomes]
rs71446729	1.00[ASN][1000 genomes]
rs73082641	1.00[ASN][1000 genomes]
rs73240463	1.00[ASN][1000 genomes]
rs7952976	0.82[EUR][1000 genomes]
rs7964797	0.85[EUR][1000 genomes]
rs7978273	1.00[EUR][1000 genomes]
rs7980917	0.82[EUR][1000 genomes]
rs9804710	0.85[EUR][1000 genomes]
rs9804803	0.85[EUR][1000 genomes]
rs9805136	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043890	chr12:20659151-21309993	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv541410	chr12:20659151-21309993	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1054997	chr12:20682009-21292602	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv17347	chr12:20892854-21029179	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv1051454	chr12:20893994-20999635	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1040033	chr12:20914439-21078855	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv869995	chr12:20929531-21081863	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv2758297	chr12:20942215-21117820	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv2759882	chr12:20942215-21117820	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv427905	chr12:20942215-21117820	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv428275	chr12:20942215-21117820	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv898859	chr12:20950737-21082276	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20942600-20961200	Weak transcription	A549	lung
2	chr12:20951200-20952000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:20951200-20953000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:20951600-20952800	Weak transcription	Adipose Nuclei	Adipose
5	chr12:20951600-20953200	Weak transcription	Liver	Liver
6	chr12:20951800-20952200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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