Variant report

Variant	rs4963957
Chromosome Location	chr12:26280533-26280534
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	chr12:26279728..26281468-chr12:26283213..26285101,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1383111	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1545784	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1545785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2343073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2620697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2729622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2729625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2729648	0.89[AFR][1000 genomes]
rs7304897	0.89[AFR][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	nsv898932	chr12:26262137-26283482	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv898933	chr12:26262137-26285006	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26279600-26280600	Enhancers	Colon Smooth Muscle	Colon
2	chr12:26279800-26280800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:26279800-26281000	Weak transcription	HSMMtube	muscle
4	chr12:26279800-26281200	Enhancers	Adipose Nuclei	Adipose
5	chr12:26279800-26281600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:26280000-26280600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:26280000-26280600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr12:26280000-26280600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:26280000-26280600	Weak transcription	Brain Angular Gyrus	brain
10	chr12:26280000-26280600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr12:26280000-26280600	Enhancers	Stomach Smooth Muscle	stomach
12	chr12:26280000-26280800	Enhancers	Duodenum Mucosa	Duodenum
13	chr12:26280000-26280800	Bivalent Enhancer	Fetal Intestine Large	intestine
14	chr12:26280000-26281200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:26280000-26281200	Enhancers	Primary B cells from peripheral blood	blood
16	chr12:26280000-26281200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:26280000-26281200	Bivalent Enhancer	Fetal Intestine Small	intestine
18	chr12:26280000-26281200	Enhancers	Hela-S3	cervix
19	chr12:26280000-26281400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:26280000-26281400	Enhancers	NHEK	skin
21	chr12:26280000-26281600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:26280000-26281600	Enhancers	HMEC	breast
23	chr12:26280000-26281800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:26280000-26282800	Enhancers	NHDF-Ad	bronchial
25	chr12:26280000-26287800	Weak transcription	Aorta	Aorta
26	chr12:26280200-26280600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
27	chr12:26280200-26280600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:26280200-26280600	Enhancers	Brain Anterior Caudate	brain
29	chr12:26280200-26280600	Enhancers	Brain Hippocampus Middle	brain
30	chr12:26280200-26280600	Bivalent Enhancer	Dnd41	blood
31	chr12:26280200-26280800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
32	chr12:26280200-26280800	Weak transcription	NHLF	lung
33	chr12:26280200-26281200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr12:26280400-26280600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
35	chr12:26280400-26280800	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr12:26280400-26286800	Weak transcription	Brain Substantia Nigra	brain

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