Variant report

Variant	rs7704424
Chromosome Location	chr5:147416094-147416095
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10058108	0.80[EUR][1000 genomes]
rs10064815	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10067434	0.81[EUR][1000 genomes]
rs10069070	0.85[CEU][hapmap]
rs10073775	0.80[CEU][hapmap]
rs1007978	0.80[CEU][hapmap]
rs1017222	0.84[CEU][hapmap]
rs10463396	0.83[EUR][1000 genomes]
rs12108690	0.84[CEU][hapmap]
rs12519144	0.80[CEU][hapmap]
rs1363727	0.81[EUR][1000 genomes]
rs1363728	0.81[EUR][1000 genomes]
rs1363729	0.85[CEU][hapmap]
rs1422982	0.84[EUR][1000 genomes]
rs1422992	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs1422997	0.81[EUR][1000 genomes]
rs1422998	0.81[EUR][1000 genomes]
rs1423000	0.84[CEU][hapmap]
rs1423001	0.84[CEU][hapmap]
rs1423002	0.80[CEU][hapmap]
rs1423003	0.85[CEU][hapmap]
rs1423004	0.85[CEU][hapmap]
rs1423006	0.80[CEU][hapmap]
rs1423007	0.84[CEU][hapmap]
rs1423008	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1609851	0.84[CEU][hapmap]
rs2052529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2216655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2287772	0.81[CEU][hapmap]
rs2895729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3752676	0.84[CEU][hapmap]
rs3756688	0.84[CEU][hapmap]
rs3822744	0.80[CEU][hapmap]
rs4357026	0.85[CEU][hapmap]
rs4472254	0.80[CEU][hapmap]
rs4529181	0.80[CEU][hapmap]
rs4705218	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580519	0.80[CEU][hapmap]
rs6580520	0.80[CEU][hapmap]
rs6864920	0.81[CEU][hapmap]
rs6891643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6895394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7701882	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7713918	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7716414	0.82[EUR][1000 genomes]
rs9325061	0.84[CEU][hapmap]
rs9325064	0.84[CEU][hapmap]

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	nsv1028477	chr5:147255013-147416217	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1033838	chr5:147360521-147484014	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv933016	chr5:147395849-147453701	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv933225	chr5:147395849-147486560	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv883015	chr5:147404281-147751035	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7704424	SPINK5	cis	Heart Left Ventricle	GTEx
rs7704424	SPINK5	cis	Thyroid	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147412800-147418000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr5:147413600-147434200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links