Variant report

Variant	rs4365346
Chromosome Location	chr17:17989373-17989374
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17973639..17975768-chr17:17988189..17989700,2	K562	blood:
2	chr17:17984941..17987120-chr17:17988485..17990982,3	MCF-7	breast:

Extended variants
information (count: 88 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs1008135	0.94[EUR][1000 genomes]
rs1101727	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11078410	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11650021	0.84[EUR][1000 genomes]
rs11867241	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12939020	0.82[EUR][1000 genomes]
rs2056842	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2955350	0.86[EUR][1000 genomes]
rs2955353	0.86[EUR][1000 genomes]
rs2955354	0.86[EUR][1000 genomes]
rs2955355	0.85[EUR][1000 genomes]
rs2955356	0.85[EUR][1000 genomes]
rs2955357	0.85[EUR][1000 genomes]
rs2955358	0.85[EUR][1000 genomes]
rs2955359	0.86[EUR][1000 genomes]
rs2955365	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2955366	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2955367	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2955368	0.84[EUR][1000 genomes]
rs2955370	0.86[EUR][1000 genomes]
rs2955372	0.87[EUR][1000 genomes]
rs2955377	0.81[EUR][1000 genomes]
rs2955378	0.81[EUR][1000 genomes]
rs2955380	0.85[EUR][1000 genomes]
rs2955381	0.84[EUR][1000 genomes]
rs2955383	0.84[EUR][1000 genomes]
rs2955384	0.84[EUR][1000 genomes]
rs2955385	0.84[EUR][1000 genomes]
rs2974998	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2974999	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2975003	0.81[ASN][1000 genomes]
rs2975004	0.81[ASN][1000 genomes]
rs2975005	0.81[ASN][1000 genomes]
rs4410135	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4426402	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4506967	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4561528	0.93[EUR][1000 genomes]
rs4643387	0.87[EUR][1000 genomes]
rs4925135	0.85[EUR][1000 genomes]
rs4925136	0.85[EUR][1000 genomes]
rs59518074	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62073573	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6502633	0.84[EUR][1000 genomes]
rs6502634	0.82[EUR][1000 genomes]
rs6502636	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6502637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6826	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs712267	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs712268	0.94[EUR][1000 genomes]
rs7207461	0.86[EUR][1000 genomes]
rs7210400	0.85[EUR][1000 genomes]
rs7211714	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7212447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7215524	0.81[EUR][1000 genomes]
rs721669	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7224047	0.83[EUR][1000 genomes]
rs7406744	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7406982	0.83[EUR][1000 genomes]
rs741782	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7503738	0.83[EUR][1000 genomes]
rs8066764	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8069811	0.81[EUR][1000 genomes]
rs8080602	0.86[EUR][1000 genomes]
rs854763	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs854767	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs854768	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs854769	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs854770	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs854789	0.94[EUR][1000 genomes]
rs854790	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs854791	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs854792	0.83[EUR][1000 genomes]
rs854808	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs854809	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs854814	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs854817	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs854818	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9303144	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9894138	0.85[EUR][1000 genomes]
rs9896837	0.81[EUR][1000 genomes]
rs9913277	0.80[EUR][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	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv960429	chr17:17951047-18027679	Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4365346	SREBF1	cis	Whole Blood	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17987200-17990600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr17:17987400-17990800	Weak transcription	HepG2	liver
3	chr17:17987800-17990600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr17:17988400-17990600	Weak transcription	Placenta	Placenta

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