Variant report

Variant	rs11710207
Chromosome Location	chr3:60759462-60759463
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11130781	0.87[ASN][1000 genomes]
rs11130782	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12185984	0.89[ASN][1000 genomes]
rs13059280	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13065371	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13067083	1.00[CHB][hapmap];0.92[JPT][hapmap];0.99[ASN][1000 genomes]
rs13073028	0.87[CHB][hapmap];0.96[CHD][hapmap];0.86[TSI][hapmap]
rs13098348	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13098466	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13098545	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13099811	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1569346	0.90[CHD][hapmap];0.80[JPT][hapmap];0.87[ASN][1000 genomes]
rs2064012	0.83[CHD][hapmap];0.81[ASN][1000 genomes]
rs2142294	0.80[JPT][hapmap];0.85[ASN][1000 genomes]
rs2205342	0.93[CHB][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2205343	1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2205344	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364293	0.82[ASN][1000 genomes]
rs2594170	0.82[ASN][1000 genomes]
rs2594171	0.82[ASN][1000 genomes]
rs2736731	0.82[ASN][1000 genomes]
rs4974227	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4974230	0.82[CHB][hapmap]
rs57203484	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57595293	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6762120	0.82[ASN][1000 genomes]
rs6762122	0.81[ASN][1000 genomes]
rs6764320	0.82[ASN][1000 genomes]
rs6771383	0.90[CHD][hapmap];0.80[JPT][hapmap];0.87[ASN][1000 genomes]
rs6786213	0.93[CHB][hapmap];0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs6787897	0.90[CHD][hapmap];0.80[JPT][hapmap];0.89[ASN][1000 genomes]
rs7429680	1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[ASN][1000 genomes]
rs926139	0.83[ASN][1000 genomes]
rs9754707	0.82[ASN][1000 genomes]
rs9823013	0.82[CHB][hapmap]
rs9840977	0.98[ASN][1000 genomes]
rs9842407	0.89[ASN][1000 genomes]
rs9847131	0.89[ASN][1000 genomes]
rs9878766	0.82[CHB][hapmap]
rs9878801	0.93[CHB][hapmap];0.92[JPT][hapmap]
rs9881274	1.00[CHB][hapmap];0.92[JPT][hapmap];0.99[ASN][1000 genomes]
rs9882068	1.00[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[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	nsv529602	chr3:60088353-60830769	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv998815	chr3:60495872-60830769	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv999828	chr3:60537384-60785274	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11710207	APPL1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60756200-60759600	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr3:60758400-60759600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr3:60758800-60759600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr3:60758800-60760400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr3:60758800-60761000	Weak transcription	Placenta	Placenta
6	chr3:60758800-60761800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:60758800-60761800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:60759000-60759600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:60759000-60760200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:60759400-60762800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links