Variant report

Variant	rs1424293
Chromosome Location	chr5:146702436-146702437
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10039739	0.82[ASN][1000 genomes]
rs10040325	0.82[ASN][1000 genomes]
rs10041697	0.89[CHB][hapmap];0.89[YRI][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10059609	0.89[ASN][1000 genomes]
rs10064995	1.00[GIH][hapmap];0.83[TSI][hapmap]
rs10070932	0.89[CHB][hapmap];0.90[CHD][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs10079191	0.94[ASW][hapmap];0.89[CHB][hapmap];0.90[CHD][hapmap];0.81[LWK][hapmap];0.86[MEX][hapmap];0.87[MKK][hapmap];0.89[YRI][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10079272	0.89[CHB][hapmap]
rs10477336	0.89[CHB][hapmap];0.90[CHD][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs10515580	0.89[CHB][hapmap];0.90[CHD][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs11747533	0.89[ASN][1000 genomes]
rs11748615	0.89[CHB][hapmap];0.85[CHD][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs11951154	0.89[CHB][hapmap];0.85[CHD][hapmap]
rs11954789	1.00[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.84[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12055338	0.94[GIH][hapmap];0.83[TSI][hapmap]
rs12332485	0.89[CHB][hapmap]
rs12514269	0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs12520436	0.85[JPT][hapmap]
rs12659468	0.83[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs13170279	0.83[CEU][hapmap];0.87[CHB][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17106458	0.89[CHB][hapmap];0.90[CHD][hapmap];0.81[JPT][hapmap];0.86[MEX][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17106505	0.85[ASN][1000 genomes]
rs1834122	0.89[ASN][1000 genomes]
rs1895565	0.85[ASN][1000 genomes]
rs2400294	0.89[CHB][hapmap];0.88[CHD][hapmap];0.82[ASN][1000 genomes]
rs2400295	0.89[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs4705038	0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs4705163	0.85[ASN][1000 genomes]
rs4705164	0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs4705165	0.89[CHB][hapmap];0.90[CHD][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs4705166	0.89[CHB][hapmap];0.90[CHD][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs57921061	0.81[ASN][1000 genomes]
rs6866098	0.94[CHB][hapmap]
rs6867255	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6872292	0.89[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs6884181	0.89[CHB][hapmap];0.90[CHD][hapmap];0.81[JPT][hapmap];0.86[MEX][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72831382	0.85[ASN][1000 genomes]
rs7707452	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs918797	0.89[CHB][hapmap];0.90[CHD][hapmap];0.82[ASN][1000 genomes]
rs918798	0.84[CHB][hapmap];0.90[CHD][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs9885145	0.89[CHB][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]

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	nsv1015804	chr5:146066000-146788233	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv537915	chr5:146066000-146788233	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv519847	chr5:146166378-146812647	Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv599938	chr5:146169511-146806365	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv869238	chr5:146179403-146787986	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1424293	SH3TC2	cis	cerebellum	SCAN
rs1424293	SPINK1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146688800-146707200	Weak transcription	Pancreas	Pancrea
2	chr5:146698800-146703400	Weak transcription	Aorta	Aorta
3	chr5:146702400-146703200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:146702400-146704000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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