Variant report

Variant	rs2320730
Chromosome Location	chr4:18572026-18572027
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1319493	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1477898	0.81[ASN][1000 genomes]
rs1477900	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1477901	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1477902	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2016590	0.82[EUR][1000 genomes]
rs2199577	0.84[ASN][1000 genomes]
rs2199578	0.84[ASN][1000 genomes]
rs2643426	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2643427	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2643431	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6816934	0.87[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	nsv1003931	chr4:18241575-18849898	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv533087	chr4:18362040-19176896	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2320730	LDB2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:18568000-18574400	Enhancers	HepG2	liver
2	chr4:18569600-18572600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr4:18570200-18574200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:18570400-18572600	Weak transcription	HUVEC	blood vessel
5	chr4:18571800-18574200	Enhancers	Fetal Intestine Small	intestine
6	chr4:18571800-18574600	Enhancers	Fetal Intestine Large	intestine

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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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