Variant report

Variant	rs73145367
Chromosome Location	chr4:54063462-54063463
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:54063125..54063629-chr4:55083710..55084568,2	K562	blood:
2	chr4:54062897..54063829-chr4:54796236..54796738,2	MCF-7	breast:
3	chr4:54063101..54063922-chr4:54467382..54468269,2	K562	blood:
4	chr4:54063102..54064001-chr4:54480545..54481508,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs58488621	0.89[AFR][1000 genomes]
rs73143459	1.00[AFR][1000 genomes]
rs73145377	1.00[AFR][1000 genomes]
rs73149240	0.89[AFR][1000 genomes]
rs73149285	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	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54043200-54077000	Weak transcription	Primary T cells from cord blood	blood
2	chr4:54048000-54086000	Weak transcription	GM12878-XiMat	blood
3	chr4:54051000-54073000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr4:54052400-54065800	Weak transcription	Aorta	Aorta
5	chr4:54053000-54093000	Weak transcription	Primary B cells from cord blood	blood
6	chr4:54054600-54072200	Weak transcription	K562	blood
7	chr4:54056600-54076400	Weak transcription	Ovary	ovary
8	chr4:54058200-54079800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:54062400-54063600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:54062400-54064000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:54062400-54064000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr4:54062400-54064400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:54062800-54063600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:54062800-54064200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:54062800-54071200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:54063000-54066200	Enhancers	Fetal Lung	lung
17	chr4:54063200-54063600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:54063200-54063800	Enhancers	Fetal Kidney	kidney
19	chr4:54063400-54063800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr4:54063400-54064000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:54063400-54064200	Weak transcription	Fetal Stomach	stomach
22	chr4:54063400-54064400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:54063400-54064400	Enhancers	Osteobl	bone
24	chr4:54063400-54065800	Weak transcription	NHLF	lung
25	chr4:54063400-54066400	Enhancers	NHDF-Ad	bronchial
26	chr4:54063400-54071400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:54063400-54079400	Weak transcription	Primary hematopoietic stem cells	blood

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