Variant report

Variant	rs12786475
Chromosome Location	chr11:72957752-72957753
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	chr11:72951072..72954969-chr11:72955033..72959684,5	MCF-7	breast:
2	chr11:72955205..72958712-chr11:72959687..72962653,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256347	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12787116	0.85[EUR][1000 genomes]
rs61893753	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61893754	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71466357	0.84[AMR][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	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1038032	chr11:72925347-72966442	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
4	nsv975393	chr11:72954333-72969696	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72953000-72962000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:72954000-72963600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:72954200-72958200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:72954200-72959600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:72954200-72959800	Weak transcription	Hela-S3	cervix
6	chr11:72954200-72961000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr11:72954200-72964000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:72954200-72968600	Weak transcription	Left Ventricle	heart
9	chr11:72954400-72959800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:72954400-72960600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:72954400-72967000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:72954600-72959800	Weak transcription	A549	lung
13	chr11:72954800-72959600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr11:72955400-72959400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr11:72955800-72962000	Enhancers	Placenta	Placenta
16	chr11:72956000-72957800	Enhancers	Osteobl	bone
17	chr11:72956000-72961200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr11:72956200-72957800	Enhancers	Fetal Lung	lung
19	chr11:72956200-72957800	Enhancers	NHDF-Ad	bronchial
20	chr11:72956200-72963800	Weak transcription	Fetal Heart	heart
21	chr11:72956600-72959600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:72956600-72968600	Weak transcription	Lung	lung
23	chr11:72956800-72957800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:72957000-72957800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:72957000-72957800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr11:72957000-72961000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:72957200-72959600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:72957200-72960000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:72957400-72960800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr11:72957600-72961000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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