Variant report

Variant	rs7564847
Chromosome Location	chr2:172366523-172366524
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10195398	1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs1125991	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs13390534	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs13406777	0.83[GIH][hapmap]
rs6709526	1.00[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.94[MEX][hapmap];0.95[MKK][hapmap];0.80[YRI][hapmap]
rs888427	0.90[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7564847	CYBRD1	cis	Esophagus Muscularis	GTEx
rs7564847	CYBRD1	cis	Whole Blood	GTEx
rs7564847	SSB	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172340000-172368400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:172364000-172367000	Enhancers	Duodenum Mucosa	Duodenum
3	chr2:172364200-172368000	Weak transcription	Aorta	Aorta
4	chr2:172365600-172367000	Enhancers	Small Intestine	intestine
5	chr2:172366200-172367200	Enhancers	K562	blood
6	chr2:172366400-172366800	Enhancers	HepG2	liver
7	chr2:172366400-172366800	Active TSS	NHDF-Ad	bronchial
8	chr2:172366400-172367200	Flanking Active TSS	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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