Variant report

Variant	rs4245007
Chromosome Location	chr10:52571502-52571503
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10740041	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10821826	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16914267	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2820743	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2820760	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2820762	1.00[CEU][hapmap]
rs4078160	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4245008	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4256922	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4382847	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4445583	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs4466777	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4619096	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4935190	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6479731	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7072584	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7084132	0.85[AMR][1000 genomes];0.95[EUR][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	nsv1035197	chr10:52446582-52622349	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs4245007	ASAH2B	cis	Esophagus Mucosa	GTEx
rs4245007	ASAH2B	cis	Esophagus Muscularis	GTEx
rs4245007	ASAH2	cis	Thyroid	GTEx
rs4245007	ASAH2B	cis	Thyroid	GTEx
rs4245007	ASAH2B	cis	lung	GTEx
rs4245007	ASAH2B	cis	Muscle Skeletal	GTEx
rs4245007	ASAH2B	cis	Artery Tibial	GTEx
rs4245007	ASAH2B	cis	Stomach	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52555200-52575800	Weak transcription	Pancreas	Pancrea
2	chr10:52565800-52575400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr10:52565800-52592000	Weak transcription	Stomach Mucosa	stomach
4	chr10:52567200-52574800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr10:52569000-52573400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr10:52569200-52572400	Strong transcription	Fetal Intestine Large	intestine
7	chr10:52569800-52572400	Strong transcription	HepG2	liver
8	chr10:52569800-52576400	Weak transcription	Fetal Intestine Small	intestine
9	chr10:52570000-52571800	Genic enhancers	Liver	Liver
10	chr10:52570400-52572200	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr10:52570800-52575800	Weak transcription	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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