Variant report

Variant	rs56370523
Chromosome Location	chr12:68400638-68400639
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	chr12:68390996..68393875-chr12:68399134..68401288,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs4913391	0.97[ASN][1000 genomes]
rs57172552	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57346651	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7315219	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73324874	0.95[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73324884	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73324885	1.00[ASN][1000 genomes]
rs73324894	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv975509	chr12:68382193-68405026	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68386400-68404200	Weak transcription	Primary B cells from cord blood	blood
2	chr12:68386800-68404600	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr12:68391400-68405400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:68392400-68404600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:68392400-68404800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr12:68392600-68413800	Weak transcription	Primary T cells from cord blood	blood
7	chr12:68392800-68405200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:68393000-68405000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:68395800-68404400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:68397200-68405400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:68398400-68405400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:68398400-68422200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:68399200-68401800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:68399200-68404800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr12:68400200-68402000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:68400400-68401600	Enhancers	Fetal Intestine Small	intestine
17	chr12:68400400-68401800	Enhancers	Liver	Liver
18	chr12:68400600-68401000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:68400600-68401000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:68400600-68401200	Enhancers	HSMMtube	muscle
21	chr12:68400600-68401800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:68400600-68402000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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