Variant report

Variant	rs17650803
Chromosome Location	chr12:42014060-42014061
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10506206	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs11181057	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11181070	0.92[EUR][1000 genomes]
rs1157533	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12298745	0.81[CHB][hapmap]
rs12301166	0.81[CHB][hapmap]
rs12310013	0.81[CHB][hapmap]
rs12310084	0.81[CHB][hapmap]
rs12317349	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12322609	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12812871	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs12813157	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs12821086	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1466162	0.85[EUR][1000 genomes]
rs1495774	0.92[EUR][1000 genomes]
rs17129513	0.81[CHB][hapmap]
rs17129602	1.00[EUR][1000 genomes]
rs17129608	0.92[EUR][1000 genomes]
rs17129618	0.92[EUR][1000 genomes]
rs17651187	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1908592	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs285549	0.80[CHB][hapmap]
rs285550	0.82[CHB][hapmap]
rs34776809	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35594056	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35721446	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35770975	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3847986	0.92[EUR][1000 genomes]
rs66645579	0.85[EUR][1000 genomes]
rs67237911	0.92[EUR][1000 genomes]
rs7307151	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs7313050	0.81[CHB][hapmap]
rs7313159	0.81[CHB][hapmap]
rs7314452	0.80[CHB][hapmap]
rs7960450	0.91[EUR][1000 genomes]
rs7976841	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv899040	chr12:41905897-42181706	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv899041	chr12:42005690-42072514	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42013200-42014600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr12:42013200-42014800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr12:42013200-42015200	Enhancers	Brain Germinal Matrix	brain
4	chr12:42013200-42015400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr12:42013200-42016400	Enhancers	Fetal Intestine Small	intestine
6	chr12:42013400-42015200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:42013600-42014600	Enhancers	Fetal Intestine Large	intestine
8	chr12:42013600-42014800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:42013800-42014800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:42014000-42019200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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