Variant report

Variant	rs56083438
Chromosome Location	chr1:119661757-119661758
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17023092	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023108	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023118	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023129	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023211	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023317	1.00[AMR][1000 genomes]
rs17023323	1.00[AMR][1000 genomes]
rs57667302	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60375409	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112264	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112272	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112284	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112509	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112511	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112512	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74114807	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74114819	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74114822	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3494191	chr1:118772550-119719548	Enhancers Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv3494192	chr1:118772550-119719548	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
4	nsv946174	chr1:119658784-119670501	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119646000-119682400	Weak transcription	Ovary	ovary
2	chr1:119652400-119671800	Weak transcription	Primary B cells from cord blood	blood
3	chr1:119656000-119674800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:119656000-119682000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:119657600-119682000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:119658400-119682000	Weak transcription	Hela-S3	cervix
7	chr1:119658800-119682200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:119660000-119671800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:119660200-119682400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:119660400-119682000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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

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