Variant report

Variant	rs73018267
Chromosome Location	chr3:157103342-157103343
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:157102830-157103906	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:157096612..157098371-chr3:157102022..157103656,2	K562	blood:

Variant related genes	Relation type
VEPH1	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs56851214	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56982459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57459645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73012170	1.00[AMR][1000 genomes]
rs73012193	1.00[AMR][1000 genomes]
rs73016274	1.00[AMR][1000 genomes]
rs73018262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73018269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73020273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73020298	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73020302	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73028043	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7624732	0.97[AFR][1000 genomes];1.00[AMR][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	esv2757900	chr3:157090166-157254684	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2759193	chr3:157090166-157254684	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr3:157083600-157105800	Weak transcription	HSMM	muscle
2	chr3:157088000-157108600	Weak transcription	Lung	lung
3	chr3:157088600-157105400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr3:157091800-157108600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:157091800-157142600	Weak transcription	Pancreas	Pancrea
6	chr3:157094200-157106000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:157094200-157106000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:157094200-157106200	Weak transcription	NH-A	brain
9	chr3:157095000-157105200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr3:157095000-157105400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:157095200-157106600	Weak transcription	Osteobl	bone
12	chr3:157098200-157105200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:157100200-157105200	Weak transcription	NHDF-Ad	bronchial
14	chr3:157101000-157103800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:157101000-157104400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:157102800-157105400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:157102800-157105600	Weak transcription	Brain Germinal Matrix	brain
18	chr3:157102800-157106200	Weak transcription	NHLF	lung
19	chr3:157103000-157103400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:157103000-157104400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr3:157103000-157105200	Weak transcription	Fetal Lung	lung
22	chr3:157103000-157105400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:157103000-157106000	Weak transcription	HUVEC	blood vessel

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