Variant report

Variant	rs7623057
Chromosome Location	chr3:141589229-141589230
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11569250	1.00[AMR][1000 genomes]
rs11569258	1.00[AMR][1000 genomes]
rs11569261	1.00[AMR][1000 genomes]
rs13577	1.00[AMR][1000 genomes]
rs34959486	0.84[AFR][1000 genomes]
rs6788524	1.00[AMR][1000 genomes]
rs6801280	1.00[AMR][1000 genomes]
rs7613481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7617280	1.00[AMR][1000 genomes]
rs7636219	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1013352	chr3:141541105-141870293	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3333253	chr3:141585303-141602936	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 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	chr3:141588600-141589600	Enhancers	HSMMtube	muscle
2	chr3:141588600-141589600	Enhancers	HUVEC	blood vessel
3	chr3:141588600-141593800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr3:141589000-141589600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:141589000-141589600	Enhancers	HMEC	breast
6	chr3:141589000-141589800	Enhancers	NHEK	skin
7	chr3:141589200-141593400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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