Variant report

Variant	rs57120226
Chromosome Location	chr8:119645354-119645355
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28416228	1.00[AMR][1000 genomes]
rs55829046	1.00[AMR][1000 genomes]
rs60528605	1.00[AMR][1000 genomes]
rs73709145	1.00[AMR][1000 genomes]
rs73709146	1.00[AMR][1000 genomes]
rs73709147	1.00[AMR][1000 genomes]
rs73709148	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73709151	1.00[AMR][1000 genomes]
rs73709152	1.00[AMR][1000 genomes]
rs73709156	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73709158	0.92[AFR][1000 genomes]
rs73709159	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891413	chr8:119607281-119679668	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv1814789	chr8:119627671-119672134	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv465786	chr8:119627671-119767165	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv612048	chr8:119627671-119767165	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv972574	chr8:119634666-119651085	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv465787	chr8:119641169-119726242	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv470231	chr8:119641169-119726242	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv612049	chr8:119641169-119726242	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119635000-119650400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:119641400-119646000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:119644800-119645600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:119645000-119645400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:119645000-119645600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr8:119645000-119646200	Weak transcription	HSMM	muscle
7	chr8:119645000-119648600	Enhancers	Osteobl	bone
8	chr8:119645200-119646200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:119645200-119646400	Weak transcription	NH-A	brain
10	chr8:119645200-119647000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:119645200-119648200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:119645200-119648800	Enhancers	NHDF-Ad	bronchial

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dbSNP/dbVar ID: rs12345 /nsv7879
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