Variant report

Variant	rs10445713
Chromosome Location	chr2:7216231-7216232
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs309263	0.80[EUR][1000 genomes]
rs309264	0.80[EUR][1000 genomes]
rs309286	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs309295	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs309302	0.92[CEU][hapmap];0.91[MEX][hapmap]
rs4669130	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55821141	0.82[EUR][1000 genomes]
rs6431849	0.82[EUR][1000 genomes]
rs89983	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[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	nsv469394	chr2:7197199-7230988	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv580914	chr2:7197199-7230988	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv915888	chr2:7197783-7461967	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10445713	RNF144A	cis	cerebellum	SCAN
rs10445713	YWHAQ	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7194200-7234000	Weak transcription	Pancreas	Pancrea
2	chr2:7195000-7217000	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:7203000-7217600	Weak transcription	Adipose Nuclei	Adipose
4	chr2:7204400-7218600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr2:7209400-7218600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr2:7211400-7217000	Weak transcription	Right Ventricle	heart
7	chr2:7211800-7224000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:7213400-7218800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:7214200-7230000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:7214400-7234000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:7214800-7218600	Strong transcription	Primary T cells from cord blood	blood
12	chr2:7215200-7216400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr2:7215600-7217200	Strong transcription	Dnd41	blood
14	chr2:7216000-7218600	Strong transcription	Primary hematopoietic stem cells short term culture	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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