Variant report

Variant	rs10049947
Chromosome Location	chr4:89790593-89790594
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12507897	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13118412	0.81[CHD][hapmap]
rs13131811	0.85[CHB][hapmap]
rs1817281	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2199065	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55916452	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7663772	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009354	chr4:89725914-89985155	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10049947	FAM13A	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:89771000-89803200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr4:89780800-89800600	Weak transcription	Pancreas	Pancrea
3	chr4:89782400-89801200	Weak transcription	Ovary	ovary
4	chr4:89787400-89801200	Weak transcription	Placenta	Placenta
5	chr4:89788400-89791600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:89789600-89793400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:89790200-89791600	Weak transcription	Fetal Intestine Small	intestine
8	chr4:89790400-89790600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood

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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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