Variant report

Variant	rs7719628
Chromosome Location	chr5:152070715-152070716
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12153605	1.00[ASN][1000 genomes]
rs12188451	1.00[ASN][1000 genomes]
rs13171648	1.00[ASN][1000 genomes]
rs17454604	1.00[ASN][1000 genomes]
rs17454632	1.00[ASN][1000 genomes]
rs34274502	1.00[ASN][1000 genomes]
rs34767836	1.00[ASN][1000 genomes]
rs34814004	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34839589	1.00[ASN][1000 genomes]
rs34941181	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34962096	1.00[ASN][1000 genomes]
rs35458863	1.00[ASN][1000 genomes]
rs35706568	1.00[ASN][1000 genomes]
rs35974504	1.00[ASN][1000 genomes]
rs4413521	1.00[ASN][1000 genomes]
rs71588055	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023676	chr5:151979253-152925064	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv537927	chr5:151979253-152925064	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7719628	SLC26A2	cis	cerebellum	SCAN
rs7719628	C5orf4	cis	parietal	SCAN
rs7719628	PCYOX1L	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:152068200-152070800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr5:152068600-152070800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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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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