Variant report

Variant	rs57421534
Chromosome Location	chr8:58416607-58416608
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16922262	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16922301	1.00[AMR][1000 genomes]
rs2218844	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57722638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73680249	1.00[AMR][1000 genomes]
rs73682315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73682386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73682388	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73682390	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73682394	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73682624	1.00[AMR][1000 genomes]
rs73682629	1.00[AMR][1000 genomes]
rs73685103	1.00[AMR][1000 genomes]
rs73685107	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758161	chr8:57930392-58474449	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv2759618	chr8:57930392-58474449	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv533217	chr8:57991065-58789001	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv890936	chr8:58266339-58564501	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv524390	chr8:58305969-58572471	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv518178	chr8:58328635-58542880	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv831322	chr8:58389416-58551242	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1015600	chr8:58400271-58548970	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1018174	chr8:58404809-58548970	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1032984	chr8:58406263-58548970	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1018076	chr8:58408947-58548970	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58407000-58418000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:58413600-58423200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:58414000-58416800	Enhancers	HSMM	muscle
4	chr8:58416000-58418800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:58416400-58416800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:58416400-58418600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr8:58416600-58418400	Weak transcription	HSMMtube	muscle

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

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