Variant report

Variant	rs10506353
Chromosome Location	chr12:59495114-59495115
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10735877	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs12423606	0.92[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1500024	0.81[ASN][1000 genomes]
rs17122093	0.96[EUR][1000 genomes]
rs17537478	0.81[ASN][1000 genomes]
rs17618789	1.00[CHB][hapmap]
rs17625922	0.81[ASN][1000 genomes]
rs17626131	0.81[ASN][1000 genomes]
rs17628225	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17629213	0.81[ASN][1000 genomes]
rs4760261	0.84[ASN][1000 genomes]
rs55670466	0.81[ASN][1000 genomes]
rs61934327	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61934328	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61934330	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61934332	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61934333	0.84[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7134004	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs907344	0.82[EUR][1000 genomes]
rs978615	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1047257	chr12:59444966-59520330	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1050662	chr12:59444966-59526442	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59489200-59496800	Weak transcription	Esophagus	oesophagus
2	chr12:59494400-59495400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:59494400-59495400	Enhancers	NHEK	skin
4	chr12:59494400-59495600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr12:59494600-59495400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr12:59494600-59495400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr12:59495000-59495200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr12:59495000-59495200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr12:59495000-59495600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:59495000-59495600	Enhancers	HMEC	breast
11	chr12:59495000-59496000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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