Variant report

Variant	rs73348693
Chromosome Location	chr8:131774375-131774376
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs73342411	1.00[AMR][1000 genomes]
rs73346695	1.00[AMR][1000 genomes]
rs73348677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73350620	1.00[AMR][1000 genomes]
rs73350624	1.00[AMR][1000 genomes]
rs73354865	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612294	chr8:131645079-131923377	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv891448	chr8:131668278-131968469	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv831462	chr8:131704119-131895793	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1034107	chr8:131740146-131985765	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv539747	chr8:131740146-131985765	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131771400-131774400	Flanking Active TSS	A549	lung
2	chr8:131772600-131775200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:131772600-131775400	Enhancers	Colon Smooth Muscle	Colon
4	chr8:131772800-131775400	Enhancers	NHDF-Ad	bronchial
5	chr8:131772800-131776800	Enhancers	NHLF	lung
6	chr8:131773000-131775200	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr8:131773600-131775200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:131773600-131775400	Enhancers	Stomach Smooth Muscle	stomach
9	chr8:131773800-131776800	Enhancers	NH-A	brain
10	chr8:131774000-131774400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:131774000-131775200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:131774000-131776600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:131774200-131774400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:131774200-131774600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr8:131774200-131774600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr8:131774200-131775400	Enhancers	Osteobl	bone

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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