Variant report

Variant	rs4623040
Chromosome Location	chr4:62624300-62624301
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10011776	0.87[EUR][1000 genomes]
rs10013153	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11732258	0.85[AMR][1000 genomes]
rs12646895	0.84[AMR][1000 genomes]
rs13132632	0.87[AMR][1000 genomes]
rs13138257	0.87[AMR][1000 genomes]
rs2343575	0.82[AMR][1000 genomes]
rs2343579	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2343580	0.84[AMR][1000 genomes]
rs4458480	0.84[AMR][1000 genomes]
rs4513598	0.83[AMR][1000 genomes]
rs4860100	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62306769	0.83[AMR][1000 genomes]
rs6551647	0.82[AMR][1000 genomes]
rs6551648	0.85[AMR][1000 genomes]
rs6551654	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6848543	0.84[AMR][1000 genomes]
rs7691739	0.88[AMR][1000 genomes]
rs7691805	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7695664	0.83[AMR][1000 genomes]
rs9998958	0.84[AMR][1000 genomes];0.80[EUR][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	nsv461377	chr4:62368762-62883431	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv594328	chr4:62368762-62883431	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv829949	chr4:62615637-62761629	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:62610400-62625400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:62616800-62625400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:62618600-62625400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:62620600-62625400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:62623600-62631600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
6	chr4:62623800-62632200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr4:62624000-62625600	Weak transcription	Right Atrium	heart
8	chr4:62624000-62633000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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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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