Variant report

Variant	rs7723508
Chromosome Location	chr5:117016937-117016938
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10042602	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10043259	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10085129	0.87[ASN][1000 genomes]
rs1526880	0.95[ASN][1000 genomes]
rs17346461	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882757	chr5:116810010-117042759	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1016664	chr5:116888074-117181273	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1019332	chr5:116888074-117248632	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1027932	chr5:117004237-117061745	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
5	nsv519949	chr5:117005690-117055145	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7723508	ATP1A1	trans	cerebellum	SCAN
rs7723508	FRAS1	trans	cerebellum	SCAN
rs7723508	BBOX1	trans	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117014600-117019200	Enhancers	HSMMtube	muscle
2	chr5:117014800-117019400	Enhancers	Fetal Heart	heart
3	chr5:117015200-117018200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:117016000-117017600	Enhancers	Fetal Muscle Leg	muscle
5	chr5:117016200-117018800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr5:117016800-117017600	Enhancers	GM12878-XiMat	blood

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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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