Variant report

Variant	rs9316497
Chromosome Location	chr13:51043788-51043789
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	chr13:51042795..51044976-chr13:51046435..51049054,2	K562	blood:
2	chr13:51040236..51041817-chr13:51041887..51044596,2	MCF-7	breast:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1028862	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10492410	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12428087	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12428189	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12431131	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1327644	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs1359860	0.84[EUR][1000 genomes]
rs149873	0.83[ASN][1000 genomes]
rs17074346	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17074358	0.82[EUR][1000 genomes]
rs201772	0.86[ASN][1000 genomes]
rs201777	0.92[CHB][hapmap];0.83[JPT][hapmap]
rs201784	0.84[CHB][hapmap];0.82[CHD][hapmap];0.83[JPT][hapmap]
rs201789	0.92[CHB][hapmap];0.83[JPT][hapmap]
rs201807	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs471315	0.84[JPT][hapmap]
rs56023535	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56075206	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60379059	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61962133	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61962135	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61964386	0.84[EUR][1000 genomes]
rs67618912	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs719103	0.85[CEU][hapmap];0.83[CHD][hapmap];0.84[JPT][hapmap];0.86[TSI][hapmap];0.83[ASN][1000 genomes]
rs7334326	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7983762	0.83[ASN][1000 genomes]
rs7996632	0.83[ASN][1000 genomes]
rs8000329	0.83[ASN][1000 genomes]
rs8000921	0.83[ASN][1000 genomes]
rs9316495	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[CHD][hapmap];0.82[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9316496	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9562968	0.83[ASN][1000 genomes]
rs9562970	0.83[ASN][1000 genomes]
rs9562972	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9562973	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9562974	0.84[EUR][1000 genomes]
rs9562975	0.86[ASN][1000 genomes]
rs9562976	0.84[ASN][1000 genomes]
rs9562980	0.84[EUR][1000 genomes]
rs9562981	0.84[EUR][1000 genomes]
rs9562982	0.84[EUR][1000 genomes]
rs9568401	0.86[TSI][hapmap]
rs9568402	0.82[CEU][hapmap]
rs9568404	0.81[CEU][hapmap]
rs9568405	0.93[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568406	0.85[CEU][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap];0.84[JPT][hapmap];0.86[TSI][hapmap];0.83[ASN][1000 genomes]
rs9568407	0.83[ASN][1000 genomes]
rs9568408	0.83[ASN][1000 genomes]
rs9568409	0.83[ASN][1000 genomes]
rs9568410	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9568412	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9568413	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9568414	0.84[EUR][1000 genomes]
rs9568415	0.84[EUR][1000 genomes]
rs9568416	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9568417	0.86[ASN][1000 genomes]
rs9568418	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9568419	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9568422	0.84[EUR][1000 genomes]
rs9568423	0.84[EUR][1000 genomes]
rs9568424	0.84[EUR][1000 genomes]
rs9568425	0.84[EUR][1000 genomes]
rs9568426	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568427	0.84[EUR][1000 genomes]
rs9568428	0.84[EUR][1000 genomes]
rs9568429	0.84[EUR][1000 genomes]
rs9568430	0.84[EUR][1000 genomes]
rs9568433	1.00[CEU][hapmap];0.92[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9634834	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832609	chr13:50946577-51065968	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1045237	chr13:50976560-51102386	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv983685	chr13:51038887-51048899	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1040	chr13:51041591-51090903	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv526482	chr13:51042258-51065836	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51030600-51050000	Weak transcription	Fetal Lung	lung
2	chr13:51041200-51043800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:51041200-51043800	Enhancers	Fetal Heart	heart
4	chr13:51041800-51060600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr13:51042400-51043800	Enhancers	K562	blood
6	chr13:51043000-51043800	Enhancers	Brain Hippocampus Middle	brain
7	chr13:51043000-51043800	Enhancers	HUVEC	blood vessel
8	chr13:51043200-51044000	Enhancers	Brain Substantia Nigra	brain
9	chr13:51043400-51044400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr13:51043600-51044000	Active TSS	Brain Inferior Temporal Lobe	brain

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