Variant report

Variant	rs12769066
Chromosome Location	chr10:52612662-52612663
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10821876	0.88[CHD][hapmap]
rs10821887	0.91[CHD][hapmap];0.81[ASN][1000 genomes]
rs10821888	0.81[ASN][1000 genomes]
rs12414527	0.95[CHB][hapmap];0.88[ASN][1000 genomes]
rs12570156	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12768916	0.81[CHD][hapmap]
rs16909866	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs16910313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16910442	0.95[CHB][hapmap];0.88[CHD][hapmap];0.87[ASN][1000 genomes]
rs16910492	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs4317935	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4459236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4935194	0.80[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

No data

Chromatin state (count:16 , 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	chr10:52610400-52613000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr10:52611000-52614800	Weak transcription	NHEK	skin
9	chr10:52611000-52617200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr10:52611800-52616800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr10:52611800-52617000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr10:52611800-52617200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr10:52612000-52613200	Genic enhancers	Liver	Liver
14	chr10:52612400-52617200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:52612400-52617200	Weak transcription	Pancreas	Pancrea
16	chr10:52612400-52617400	Weak transcription	HepG2	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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