Variant report

Variant	rs10495275
Chromosome Location	chr1:227642119-227642120
allele	C/T
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:8)

rs_ID	r²[population]
rs1495855	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16847875	0.91[CEU][hapmap];0.96[GIH][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2201570	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3014292	0.82[JPT][hapmap]
rs4653839	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60333974	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7539715	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs903687	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1001353	chr1:227474785-227660691	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1003278	chr1:227563126-227678464	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10495275	CDC42BPA	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227635800-227654000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:227639400-227653600	Weak transcription	Right Atrium	heart
3	chr1:227641200-227643000	Enhancers	Fetal Muscle Leg	muscle
4	chr1:227641600-227642200	Bivalent Enhancer	HSMMtube	muscle
5	chr1:227641600-227642400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr1:227641600-227642400	Bivalent Enhancer	HSMM	muscle
7	chr1:227641800-227642200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:227641800-227642200	Flanking Active TSS	Brain Anterior Caudate	brain
9	chr1:227641800-227642400	Enhancers	Fetal Muscle Trunk	muscle

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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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