Variant report

Variant	rs2453582
Chromosome Location	chr17:19439066-19439067
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11870808	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11871125	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2252281	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2440164	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2440165	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2453578	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2453579	0.88[EUR][1000 genomes]
rs2453580	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453583	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2453584	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55661368	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8071709	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs894680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs894682	0.96[ASN][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	nsv428337	chr17:19340045-19585774	Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2453582	SLC47A1	cis	Nerve Tibial	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19437800-19441400	Weak transcription	Pancreas	Pancrea
2	chr17:19437800-19441800	Weak transcription	Gastric	stomach
3	chr17:19438000-19442000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr17:19438200-19441600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr17:19438200-19446800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr17:19438400-19440400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr17:19438400-19441000	Weak transcription	Left Ventricle	heart
8	chr17:19438400-19441600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr17:19438400-19441600	Weak transcription	GM12878-XiMat	blood
10	chr17:19438400-19442000	Weak transcription	Brain Substantia Nigra	brain
11	chr17:19438400-19443200	Weak transcription	Lung	lung
12	chr17:19438400-19445600	Weak transcription	A549	lung
13	chr17:19438400-19454400	Weak transcription	Aorta	Aorta
14	chr17:19438400-19456200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr17:19438800-19441200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr17:19438800-19446000	Enhancers	Liver	Liver
17	chr17:19439000-19439200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
18	chr17:19439000-19439200	Enhancers	Psoas Muscle	Psoas
19	chr17:19439000-19439200	Flanking Active TSS	HepG2	liver

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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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