Variant report

Variant	rs10490603
Chromosome Location	chr2:172369400-172369401
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11696032	0.86[ASN][1000 genomes]
rs13392902	0.83[CHD][hapmap];0.82[JPT][hapmap];0.89[MEX][hapmap];0.87[TSI][hapmap]
rs16823212	1.00[CHB][hapmap]
rs16859370	0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs17219416	0.82[JPT][hapmap]
rs62181675	0.87[AMR][1000 genomes]
rs62181678	0.87[AMR][1000 genomes]
rs62183546	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62183547	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62183549	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72880595	0.86[ASN][1000 genomes]
rs72882305	0.86[ASN][1000 genomes]
rs72882311	0.86[ASN][1000 genomes]
rs72882329	0.86[ASN][1000 genomes]
rs72882335	0.86[ASN][1000 genomes]
rs72882366	0.90[ASN][1000 genomes]
rs72882388	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7596578	0.83[CHD][hapmap];0.82[JPT][hapmap];0.89[MEX][hapmap];0.87[TSI][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
rs10490603	CYBRD1	cis	multi-tissue	Pritchard
rs10490603	GORASP2	cis	parietal	SCAN
rs10490603	SLC25A12	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172367000-172372000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:172367000-172372000	Weak transcription	NHDF-Ad	bronchial
3	chr2:172367000-172378000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:172367800-172369600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr2:172367800-172371600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr2:172368000-172371200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:172368000-172371200	Enhancers	Primary hematopoietic stem cells	blood
8	chr2:172368000-172371200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:172368000-172371600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:172368000-172372400	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr2:172368400-172370200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:172368600-172372000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:172368800-172369800	Weak transcription	GM12878-XiMat	blood
14	chr2:172368800-172370600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr2:172369000-172370000	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr2:172369200-172369800	Flanking Active TSS	K562	blood
17	chr2:172369400-172369800	Enhancers	Fetal Heart	heart
18	chr2:172369400-172370800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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