Variant report

Variant	rs1493935
Chromosome Location	chr8:119848956-119848957
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs3134076	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3134078	0.80[ASN][1000 genomes]
rs3134079	0.81[ASN][1000 genomes]
rs3134080	0.81[ASN][1000 genomes]
rs3134081	0.80[ASN][1000 genomes]
rs3134084	0.85[ASN][1000 genomes]
rs3134085	0.85[ASN][1000 genomes]
rs4430126	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs903611	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[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	nsv891414	chr8:119755490-119881550	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv831444	chr8:119757355-119915966	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1493935	MTBP	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119848200-119851600	Enhancers	Hela-S3	cervix
2	chr8:119848200-119852200	Enhancers	HMEC	breast
3	chr8:119848800-119850600	Enhancers	Fetal Intestine Small	intestine
4	chr8:119848800-119852200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	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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