Variant report

Variant	rs56251385
Chromosome Location	chr12:76218599-76218600
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:76216861..76218706-chr12:76245064..76247244,2	MCF-7	breast:
2	chr12:76217074..76218936-chr12:76228303..76230726,2	MCF-7	breast:
3	chr12:76218050..76221140-chr12:76222385..76226289,4	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10748289	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10748290	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10879987	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11180696	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11180697	0.96[ASN][1000 genomes]
rs11611462	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1275555	0.95[ASN][1000 genomes]
rs1290030	0.81[EUR][1000 genomes]
rs1298362	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2367301	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][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	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv832463	chr12:76136551-76316703	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv899315	chr12:76163309-76385096	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1041730	chr12:76198863-76331900	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr12:76208800-76221200	Enhancers	NHLF	lung
2	chr12:76213400-76218600	Weak transcription	Esophagus	oesophagus
3	chr12:76213600-76219200	Weak transcription	Fetal Kidney	kidney
4	chr12:76215000-76219000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:76215000-76219800	Weak transcription	Aorta	Aorta
6	chr12:76215000-76220600	Enhancers	NHDF-Ad	bronchial
7	chr12:76215000-76223800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:76215200-76219000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:76215400-76218600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:76216000-76221200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:76216400-76219400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr12:76216600-76218600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:76216600-76218600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:76216600-76223800	Weak transcription	Fetal Lung	lung
15	chr12:76216800-76218800	Enhancers	HMEC	breast
16	chr12:76217200-76220000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:76217200-76220200	Enhancers	NH-A	brain
18	chr12:76217200-76220400	Enhancers	Osteobl	bone
19	chr12:76217400-76220600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr12:76218000-76218600	Enhancers	HepG2	liver
21	chr12:76218000-76219000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:76218000-76219600	Flanking Active TSS	NHEK	skin
23	chr12:76218000-76220800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:76218200-76219600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:76218200-76220200	Enhancers	HSMMtube	muscle
26	chr12:76218400-76218600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:76218400-76219400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:76218400-76220400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:76218400-76220400	Enhancers	HSMM	muscle

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