Variant report

Variant	rs4705230
Chromosome Location	chr5:147559837-147559838
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:147558395..147559990-chr5:148110263..148111226,5	MCF-7	breast:

Extended variants
information (count: 106 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10041939	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10043288	0.81[AMR][1000 genomes]
rs10052031	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10055396	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10059441	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10061827	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10074328	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10075227	0.80[AMR][1000 genomes]
rs10077607	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10477363	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10491344	0.80[AMR][1000 genomes]
rs11168037	0.80[AMR][1000 genomes]
rs11168039	0.80[AMR][1000 genomes]
rs11743040	0.80[AMR][1000 genomes]
rs11743518	0.80[AMR][1000 genomes]
rs11743523	0.80[AMR][1000 genomes]
rs11745313	0.80[AMR][1000 genomes]
rs11748034	0.80[AMR][1000 genomes]
rs12515246	0.80[AMR][1000 genomes]
rs12515885	0.80[AMR][1000 genomes]
rs12516461	0.80[AMR][1000 genomes]
rs12519059	0.80[AMR][1000 genomes]
rs12519106	0.80[AMR][1000 genomes]
rs12519629	0.80[AMR][1000 genomes]
rs12521387	0.80[AMR][1000 genomes]
rs12653723	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12653724	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12717963	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13154742	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13174534	0.80[AMR][1000 genomes]
rs13174816	0.80[AMR][1000 genomes]
rs13174845	0.80[AMR][1000 genomes]
rs13179181	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1558410	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17107871	0.80[AMR][1000 genomes]
rs1974627	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1974628	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1974629	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2159661	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2191680	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2191681	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2400488	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2400491	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2400492	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2400493	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2400494	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2400495	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2400496	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2400497	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2400498	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34258096	0.80[EUR][1000 genomes]
rs34339574	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34506706	0.80[AMR][1000 genomes]
rs35217112	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35491588	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35507985	0.80[AMR][1000 genomes]
rs35696310	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36056267	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4133459	0.82[AMR][1000 genomes]
rs4259160	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4269285	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4270684	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4452547	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4498243	0.80[AMR][1000 genomes]
rs4705234	0.80[AMR][1000 genomes]
rs6580532	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6580533	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6580534	0.80[AMR][1000 genomes]
rs6580535	0.80[AMR][1000 genomes]
rs6580536	0.80[AMR][1000 genomes]
rs6860003	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6864124	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6865474	0.80[AMR][1000 genomes]
rs6867695	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6868569	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6869054	0.80[AMR][1000 genomes]
rs6870548	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6871633	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6884944	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6894796	0.80[ASN][1000 genomes]
rs6896988	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7442875	0.80[AMR][1000 genomes]
rs7444240	0.80[AMR][1000 genomes]
rs7445428	0.80[AMR][1000 genomes]
rs7445725	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7449160	0.80[AMR][1000 genomes]
rs767568	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs767569	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs767570	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7703761	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7705007	0.80[AMR][1000 genomes]
rs7716861	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7717500	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7719535	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9285669	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9325077	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9325078	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9325084	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9325087	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9325088	0.80[AMR][1000 genomes]
rs963016	0.80[AMR][1000 genomes]
rs9885270	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9885333	0.83[AMR][1000 genomes];0.84[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	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
2	nsv830515	chr5:147460852-147602247	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv1843289	chr5:147554337-147576457	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4705230	SPINK6	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147559000-147561400	Enhancers	Hela-S3	cervix
2	chr5:147559800-147561400	Enhancers	Stomach Mucosa	stomach

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