Variant report

Variant	rs1469862
Chromosome Location	chr12:64713156-64713157
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	chr12:64707395..64710674-chr12:64712585..64715820,4	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10459258	1.00[AMR][1000 genomes]
rs10459259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10735920	1.00[AMR][1000 genomes]
rs10735921	1.00[AMR][1000 genomes]
rs10735922	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10878133	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10878145	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1162970	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11830260	1.00[AMR][1000 genomes]
rs11835078	1.00[AMR][1000 genomes]
rs1436361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1657051	1.00[AMR][1000 genomes]
rs1708200	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1865796	0.89[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1898221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2082951	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2335390	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2453509	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2575290	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2575294	1.00[AMR][1000 genomes]
rs35744300	1.00[AMR][1000 genomes]
rs4237925	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4522269	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4572232	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4763015	1.00[AFR][1000 genomes]
rs4763153	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4763155	0.84[AFR][1000 genomes]
rs4763156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6421211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6581542	0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs696658	1.00[AMR][1000 genomes]
rs696659	1.00[AMR][1000 genomes]
rs699629	1.00[AMR][1000 genomes]
rs699630	1.00[AMR][1000 genomes]
rs699631	1.00[AMR][1000 genomes]
rs699632	1.00[AMR][1000 genomes]
rs699635	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs699636	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs699637	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs699638	1.00[AMR][1000 genomes]
rs73315583	1.00[AMR][1000 genomes]
rs73315593	1.00[AMR][1000 genomes]
rs73315599	1.00[AMR][1000 genomes]
rs7488560	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs789723	1.00[AMR][1000 genomes]
rs789726	1.00[AMR][1000 genomes]
rs789727	1.00[AMR][1000 genomes]
rs789728	1.00[AMR][1000 genomes]
rs789730	1.00[AMR][1000 genomes]
rs789738	1.00[AMR][1000 genomes]
rs789742	1.00[AMR][1000 genomes]
rs789747	1.00[AMR][1000 genomes]
rs790013	1.00[AMR][1000 genomes]
rs790014	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs790017	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7955105	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7976524	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs809322	1.00[AMR][1000 genomes]
rs813156	0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3509287	chr12:64526217-64736995	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3509288	chr12:64526217-64736995	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv469456	chr12:64710719-64749372	Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv559202	chr12:64710719-64749372	Enhancers Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr12:64698600-64714000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:64706200-64713800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:64710200-64713600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:64712200-64713200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr12:64712400-64713200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:64712400-64713200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr12:64712400-64713200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr12:64712600-64714800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr12:64712800-64714000	Weak transcription	Brain Anterior Caudate	brain
10	chr12:64712800-64714200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:64712800-64714400	Weak transcription	Brain Substantia Nigra	brain
12	chr12:64712800-64714600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:64712800-64716200	Weak transcription	HSMMtube	muscle
14	chr12:64712800-64717600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:64712800-64717800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:64713000-64713400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:64713000-64714000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr12:64713000-64714000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:64713000-64714000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:64713000-64714200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:64713000-64714200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:64713000-64714400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:64713000-64714400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:64713000-64714400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:64713000-64714400	Weak transcription	Brain Angular Gyrus	brain
26	chr12:64713000-64714400	Weak transcription	HepG2	liver
27	chr12:64713000-64717000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:64713000-64717000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:64713000-64717200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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