Variant report

Variant	rs12537044
Chromosome Location	chr7:39357892-39357893
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1019083	0.80[MEX][hapmap]
rs10951600	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10951601	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs10951602	0.83[CEU][hapmap]
rs11761411	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs11768007	0.95[EUR][1000 genomes]
rs12530511	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12533451	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs17619162	0.83[CEU][hapmap];0.82[MEX][hapmap];0.80[TSI][hapmap];0.83[EUR][1000 genomes]
rs2074935	0.84[CEU][hapmap];0.82[MEX][hapmap];0.80[TSI][hapmap]
rs2074937	0.84[CEU][hapmap];0.82[MEX][hapmap];0.80[TSI][hapmap];0.82[EUR][1000 genomes]
rs2299139	0.83[CEU][hapmap]
rs3823619	0.84[CEU][hapmap]
rs4524676	0.81[CEU][hapmap]
rs4551241	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs59663839	0.82[EUR][1000 genomes]
rs60803367	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6462906	0.88[ASN][1000 genomes]
rs73118050	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73121835	0.82[EUR][1000 genomes]
rs73126485	0.94[EUR][1000 genomes]
rs73126501	0.95[EUR][1000 genomes]
rs73128428	0.94[EUR][1000 genomes]
rs73130437	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73130461	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[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	nsv1015572	chr7:39185895-39413053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv538821	chr7:39185895-39413053	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv887969	chr7:39265429-39391875	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12537044	HERPUD2	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39350600-39358400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:39354800-39358800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:39355400-39359000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:39355800-39358400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:39357000-39361400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:39357600-39358200	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links