Variant report

Variant	rs12630066
Chromosome Location	chr3:111521952-111521953
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:111521862..111524115-chr3:111526095..111528698,2	MCF-7	breast:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12485512	0.80[JPT][hapmap];0.93[AMR][1000 genomes]
rs12487229	0.85[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829676	chr3:111464087-111619200	Genic enhancers Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111509400-111525800	Weak transcription	Fetal Intestine Small	intestine
2	chr3:111510200-111522000	Weak transcription	Left Ventricle	heart
3	chr3:111514600-111533200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:111518800-111522000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:111518800-111522000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:111518800-111522200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:111518800-111522400	Enhancers	Liver	Liver
8	chr3:111518800-111523200	Enhancers	HMEC	breast
9	chr3:111518800-111523600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:111519000-111522800	Enhancers	Adipose Nuclei	Adipose
11	chr3:111519000-111523400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:111519200-111522200	Weak transcription	Esophagus	oesophagus
13	chr3:111519200-111523200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:111519200-111526200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:111519200-111526400	Weak transcription	Pancreas	Pancrea
16	chr3:111519400-111522200	Enhancers	Osteobl	bone
17	chr3:111519400-111522400	Enhancers	Fetal Lung	lung
18	chr3:111519600-111522400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr3:111519800-111523400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:111520000-111523000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:111520000-111523200	Enhancers	NHLF	lung
22	chr3:111520000-111525800	Weak transcription	Fetal Intestine Large	intestine
23	chr3:111520200-111522200	Weak transcription	Right Atrium	heart
24	chr3:111520600-111522600	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr3:111520600-111522800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:111520600-111522800	Flanking Active TSS	A549	lung
27	chr3:111520600-111523000	Enhancers	NH-A	brain
28	chr3:111520800-111522400	Enhancers	Placenta	Placenta
29	chr3:111520800-111523000	Enhancers	Rectal Smooth Muscle	rectum
30	chr3:111520800-111523000	Enhancers	HSMMtube	muscle
31	chr3:111521000-111522200	Enhancers	Colon Smooth Muscle	Colon
32	chr3:111521000-111522600	Enhancers	Fetal Heart	heart
33	chr3:111521000-111522600	Enhancers	Fetal Stomach	stomach
34	chr3:111521000-111522600	Enhancers	Stomach Smooth Muscle	stomach
35	chr3:111521000-111526400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr3:111521200-111522000	Weak transcription	Fetal Muscle Leg	muscle
37	chr3:111521200-111522200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:111521200-111523000	Enhancers	HSMM	muscle
39	chr3:111521200-111531000	Weak transcription	Small Intestine	intestine
40	chr3:111521400-111527200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr3:111521600-111522000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr3:111521600-111522200	Weak transcription	Ovary	ovary
43	chr3:111521600-111522600	Flanking Active TSS	Hela-S3	cervix
44	chr3:111521600-111523000	Enhancers	NHDF-Ad	bronchial
45	chr3:111521600-111523600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr3:111521800-111522200	Enhancers	NHEK	skin
47	chr3:111521800-111522400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr3:111521800-111523400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr3:111521800-111527000	Weak transcription	Fetal Kidney	kidney
50	chr3:111521800-111527800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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