Variant report

Variant	rs11183720
Chromosome Location	chr12:47463452-47463453
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:47462312..47464080-chr12:47516713..47519338,2	MCF-7	breast:
2	chr12:47461955..47464212-chr12:47499557..47502695,3	MCF-7	breast:
3	chr12:47427484..47430448-chr12:47461043..47464291,4	MCF-7	breast:
4	chr12:47448359..47450506-chr12:47463398..47466117,2	MCF-7	breast:
5	chr12:47463342..47465286-chr12:47468931..47471873,3	K562	blood:
6	chr12:47429561..47435468-chr12:47461166..47465948,5	MCF-7	breast:
7	chr12:47462488..47464842-chr12:47470373..47472579,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11183691	1.00[AMR][1000 genomes]
rs11183712	1.00[AMR][1000 genomes]
rs12300446	1.00[AMR][1000 genomes]
rs59996463	1.00[AMR][1000 genomes]
rs74082742	1.00[AMR][1000 genomes]
rs855150	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv694	chr12:47460716-47473382	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47458800-47464400	Enhancers	Colon Smooth Muscle	Colon
2	chr12:47459600-47464200	Enhancers	Fetal Stomach	stomach
3	chr12:47460000-47464000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:47460000-47465800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr12:47460400-47469600	Weak transcription	HSMM	muscle
6	chr12:47460800-47469000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:47460800-47469000	Weak transcription	Ovary	ovary
8	chr12:47460800-47470400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:47460800-47471800	Weak transcription	Fetal Intestine Small	intestine
10	chr12:47461000-47463800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr12:47461000-47463800	Enhancers	A549	lung
12	chr12:47461400-47464600	Weak transcription	Pancreas	Pancrea
13	chr12:47461800-47464000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:47461800-47470000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:47462600-47463800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr12:47462600-47471400	Weak transcription	Lung	lung
17	chr12:47462800-47464600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:47462800-47464800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:47462800-47471200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:47463000-47464000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:47463000-47465400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:47463000-47468800	Weak transcription	NH-A	brain
23	chr12:47463200-47465000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr12:47463200-47469800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:47463200-47471400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:47463400-47464000	Weak transcription	Aorta	Aorta
27	chr12:47463400-47464200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:47463400-47464800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:47463400-47464800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr12:47463400-47469200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr12:47463400-47472400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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