Variant report

Variant	rs506276
Chromosome Location	chr8:9790912-9790913
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs2055729	0.95[CEU][hapmap];0.97[GIH][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2661747	0.83[GIH][hapmap]
rs35649764	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4841254	0.94[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs491364	0.90[CEU][hapmap]
rs497417	0.95[YRI][hapmap];0.83[AFR][1000 genomes]
rs592420	0.90[CEU][hapmap]
rs9918834	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9918845	0.85[AFR][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	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs506276	FLJ10661	cis	cerebellum	SCAN
rs506276	MFHAS1	cis	cerebellum	SCAN
rs506276	DEFB1	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9788600-9791400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:9789800-9791000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr8:9790000-9791000	Weak transcription	Fetal Brain Male	brain
4	chr8:9790000-9791200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:9790800-9791000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr8:9790800-9791000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr8:9790800-9791000	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:9790800-9791200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:9790800-9791200	Flanking Active TSS	Brain Germinal Matrix	brain
10	chr8:9790800-9791600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr8:9790800-9791600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum

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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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