Variant report

Variant	rs17630679
Chromosome Location	chr13:90202273-90202274
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11069934	0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11617569	0.84[ASN][1000 genomes]
rs12584606	0.83[ASN][1000 genomes]
rs1504434	0.84[ASN][1000 genomes]
rs1504436	0.84[ASN][1000 genomes]
rs17729533	0.84[ASN][1000 genomes]
rs2221404	0.84[ASN][1000 genomes]
rs2348965	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35855604	0.83[ASN][1000 genomes]
rs4576939	0.83[ASN][1000 genomes]
rs61194221	0.84[ASN][1000 genomes]
rs7993695	0.83[ASN][1000 genomes]
rs7996895	0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs868919	0.83[EUR][1000 genomes]
rs9301583	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9555913	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9555914	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9588641	0.84[ASN][1000 genomes]
rs9588642	0.84[ASN][1000 genomes]
rs9588643	0.84[ASN][1000 genomes]
rs9588647	0.84[ASN][1000 genomes]
rs9588653	0.83[ASN][1000 genomes]
rs9588655	0.83[ASN][1000 genomes]
rs9588656	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048574	chr13:89650680-90232894	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1044807	chr13:89991827-90263328	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1039775	chr13:89995537-90260944	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv900860	chr13:90008941-90259291	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv533455	chr13:90041897-90255725	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1053657	chr13:90100510-90578568	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1038982	chr13:90199563-90345091	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17630679	HRH4	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:90193800-90202800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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