Variant report

Variant	rs74078122
Chromosome Location	chr13:51190775-51190776
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	chr13:51188683..51191307-chr13:51240067..51242505,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs55670628	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56261461	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57338369	0.87[AMR][1000 genomes]
rs74078107	0.87[AMR][1000 genomes]
rs74078113	0.87[AMR][1000 genomes]
rs74078125	0.87[AMR][1000 genomes]
rs74078127	0.87[AMR][1000 genomes]
rs7998341	0.88[AFR][1000 genomes];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	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
2	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753864	chr13:51136699-51375199	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1045733	chr13:51187575-51217464	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51181800-51204600	Weak transcription	Pancreas	Pancrea
2	chr13:51186000-51191200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr13:51186400-51191000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr13:51186600-51190800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr13:51186600-51191000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr13:51187000-51190800	Weak transcription	Primary B cells from cord blood	blood
7	chr13:51187000-51191200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr13:51187000-51191400	Weak transcription	Thymus	Thymus
9	chr13:51187200-51190800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr13:51188400-51190800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr13:51188400-51191200	Weak transcription	K562	blood
12	chr13:51189800-51192600	Enhancers	Osteobl	bone
13	chr13:51190200-51192200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr13:51190200-51192600	Enhancers	HUVEC	blood vessel
15	chr13:51190200-51192800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:51190200-51192800	Enhancers	NHDF-Ad	bronchial
17	chr13:51190400-51190800	Weak transcription	Dnd41	blood
18	chr13:51190400-51191600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr13:51190400-51191600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:51190400-51191600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr13:51190400-51191800	Enhancers	Fetal Thymus	thymus
22	chr13:51190400-51192600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr13:51190600-51192400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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