Variant report

Variant	rs62443483
Chromosome Location	chr7:14547757-14547758
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs28574740	1.00[EUR][1000 genomes]
rs58696251	0.87[EUR][1000 genomes]
rs62443274	1.00[EUR][1000 genomes]
rs62443276	1.00[EUR][1000 genomes]
rs62443277	1.00[EUR][1000 genomes]
rs62443279	1.00[EUR][1000 genomes]
rs62443280	1.00[EUR][1000 genomes]
rs62443468	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62443474	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62443475	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62443478	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62443480	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62443481	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62443482	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62443484	1.00[EUR][1000 genomes]
rs62443485	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62443493	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62443494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62443526	1.00[AMR][1000 genomes]
rs62443527	1.00[AMR][1000 genomes]
rs62443551	1.00[AMR][1000 genomes]
rs62443552	1.00[AMR][1000 genomes]
rs62444647	0.87[EUR][1000 genomes]
rs62444648	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949033	chr7:14086106-14860323	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv915603	chr7:14443884-14624268	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv1848567	chr7:14464118-14579801	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv887707	chr7:14471682-14576163	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv887708	chr7:14494508-14617982	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1800100	chr7:14511454-14564068	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv606282	chr7:14542836-14579801	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62443483	RQCD1	trans	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14544600-14548400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:14546200-14548400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr7:14546800-14548200	Enhancers	Fetal Heart	heart
4	chr7:14547200-14547800	Enhancers	Liver	Liver
5	chr7:14547200-14547800	Enhancers	NHEK	skin
6	chr7:14547200-14548000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:14547200-14548000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:14547200-14548200	Enhancers	HMEC	breast
9	chr7:14547200-14548800	Enhancers	Muscle Satellite Cultured Cells	--

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Input of quick search could be:

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

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