Variant report

Variant	rs11148991
Chromosome Location	chr13:76010418-76010419
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	chr13:75995155..75997583-chr13:76008441..76010514,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs4334162	1.00[AMR][1000 genomes]
rs4396420	1.00[AMR][1000 genomes]
rs4640064	1.00[AMR][1000 genomes]
rs4883996	1.00[AMR][1000 genomes]
rs4885292	1.00[AMR][1000 genomes]
rs6562893	1.00[AMR][1000 genomes]
rs7325921	1.00[AMR][1000 genomes]
rs9318341	1.00[AMR][1000 genomes]
rs9543917	1.00[AMR][1000 genomes]
rs9543918	1.00[AMR][1000 genomes]
rs9543919	1.00[AMR][1000 genomes]
rs9543922	1.00[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	nsv498067	chr13:75178898-76012362	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv455987	chr13:75972846-76090084	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv562346	chr13:75972846-76090084	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:75993600-76011200	Weak transcription	Fetal Lung	lung
2	chr13:76000600-76011200	Weak transcription	K562	blood
3	chr13:76005200-76014800	Weak transcription	Left Ventricle	heart
4	chr13:76005200-76017200	Weak transcription	Pancreas	Pancrea
5	chr13:76005200-76017600	Weak transcription	Right Atrium	heart
6	chr13:76006200-76011600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:76006800-76011800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:76007000-76011600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:76007400-76010600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr13:76007400-76011400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr13:76007400-76011800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:76007400-76011800	Weak transcription	NHDF-Ad	bronchial
13	chr13:76007400-76017000	Weak transcription	NHLF	lung
14	chr13:76007400-76017600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr13:76007400-76018600	Weak transcription	Esophagus	oesophagus
16	chr13:76007400-76032000	Weak transcription	Gastric	stomach
17	chr13:76007600-76011200	Weak transcription	Fetal Kidney	kidney
18	chr13:76007600-76012200	Weak transcription	Right Ventricle	heart
19	chr13:76007600-76014200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr13:76007800-76011000	Weak transcription	Fetal Heart	heart
21	chr13:76008400-76011200	Weak transcription	HepG2	liver
22	chr13:76010000-76011200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr13:76010000-76012600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr13:76010200-76010600	Enhancers	Ovary	ovary

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