Variant report

Variant	rs10994720
Chromosome Location	chr10:52612101-52612102
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10821871	1.00[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];0.97[LWK][hapmap];0.92[MEX][hapmap];0.82[MKK][hapmap];0.94[TSI][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10821877	1.00[ASW][hapmap];0.88[CEU][hapmap];0.86[GIH][hapmap];0.82[LWK][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10821905	1.00[CHD][hapmap];0.97[ASN][1000 genomes]
rs10821907	0.97[ASN][1000 genomes]
rs10994856	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.82[YRI][hapmap];0.97[ASN][1000 genomes]
rs10994860	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.82[YRI][hapmap];0.97[ASN][1000 genomes]
rs11591939	0.80[YRI][hapmap]
rs11815391	1.00[CEU][hapmap];0.92[MEX][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs12768916	0.87[ASW][hapmap];0.90[LWK][hapmap];0.84[MKK][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes]
rs12768968	0.87[CEU][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28621957	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35182775	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[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	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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10994720	ASAH2B	cis	Thyroid	GTEx
rs10994720	ASAH2B	cis	lung	GTEx
rs10994720	ERCC6	cis	parietal	SCAN
rs10994720	ASAH2B	cis	lymphoblastoid	seeQTL
rs10994720	ASAH2B	cis	Esophagus Mucosa	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52580400-52643200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr10:52585200-52617200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr10:52594800-52617200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr10:52598200-52622400	Weak transcription	Fetal Intestine Small	intestine
5	chr10:52602800-52619200	Weak transcription	Fetal Intestine Large	intestine
6	chr10:52609000-52614200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr10:52610400-52612600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr10:52610400-52613000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr10:52611000-52614800	Weak transcription	NHEK	skin
10	chr10:52611000-52617200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr10:52611400-52612400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:52611800-52616800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr10:52611800-52617000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr10:52611800-52617200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr10:52612000-52612200	Strong transcription	HepG2	liver
16	chr10:52612000-52612400	Enhancers	Pancreas	Pancrea
17	chr10:52612000-52613200	Genic enhancers	Liver	Liver

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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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