Variant report

Variant	rs888427
Chromosome Location	chr2:172368120-172368121
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10195398	0.90[CHB][hapmap]
rs1476110	0.84[CEU][hapmap];0.92[GIH][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57207005	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60723438	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6709526	0.90[CHB][hapmap]
rs6724344	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67453340	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7564847	0.90[CHB][hapmap]
rs918231	0.84[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]

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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs888427	CYBRD1	cis	Whole Blood	GTEx
rs888427	DLX1	cis	cerebellum	SCAN

Chromatin state (count:15 , 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	chr2:172367000-172372000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:172367000-172372000	Weak transcription	NHDF-Ad	bronchial
4	chr2:172367000-172378000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:172367200-172368800	Enhancers	GM12878-XiMat	blood
6	chr2:172367600-172369200	Enhancers	K562	blood
7	chr2:172367800-172369600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr2:172367800-172371600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr2:172368000-172368800	Enhancers	Duodenum Mucosa	Duodenum
10	chr2:172368000-172369000	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr2:172368000-172371200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:172368000-172371200	Enhancers	Primary hematopoietic stem cells	blood
13	chr2:172368000-172371200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:172368000-172371600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:172368000-172372400	Enhancers	Primary neutrophils fromperipheralblood	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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