Variant report

Variant	rs9548563
Chromosome Location	chr13:39528740-39528741
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs11618742	1.00[ASN][1000 genomes]
rs12864816	1.00[ASN][1000 genomes]
rs12869426	1.00[ASN][1000 genomes]
rs12869876	1.00[ASN][1000 genomes]
rs12869917	1.00[ASN][1000 genomes]
rs12875224	1.00[ASN][1000 genomes]
rs1333506	1.00[ASN][1000 genomes]
rs1333508	1.00[ASN][1000 genomes]
rs1945496	1.00[ASN][1000 genomes]
rs34127262	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34943621	1.00[ASN][1000 genomes]
rs35252750	1.00[ASN][1000 genomes]
rs35429023	1.00[ASN][1000 genomes]
rs35459396	1.00[ASN][1000 genomes]
rs35657252	1.00[ASN][1000 genomes]
rs35944548	1.00[ASN][1000 genomes]
rs35986835	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs36088006	1.00[ASN][1000 genomes]
rs4287442	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4334155	1.00[ASN][1000 genomes]
rs4369521	1.00[ASN][1000 genomes]
rs4397983	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4426230	1.00[ASN][1000 genomes]
rs4426231	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4533148	1.00[ASN][1000 genomes]
rs4643179	1.00[ASN][1000 genomes]
rs4943606	1.00[ASN][1000 genomes]
rs4943607	1.00[ASN][1000 genomes]
rs4943608	1.00[ASN][1000 genomes]
rs4943609	1.00[ASN][1000 genomes]
rs4943610	1.00[ASN][1000 genomes]
rs4943611	1.00[ASN][1000 genomes]
rs4943612	1.00[ASN][1000 genomes]
rs4943615	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61945515	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61945516	1.00[ASN][1000 genomes]
rs61945763	1.00[ASN][1000 genomes]
rs61947983	1.00[ASN][1000 genomes]
rs61948017	1.00[ASN][1000 genomes]
rs61948018	1.00[ASN][1000 genomes]
rs66889481	1.00[ASN][1000 genomes]
rs71198492	1.00[ASN][1000 genomes]
rs71423186	1.00[ASN][1000 genomes]
rs71423187	1.00[ASN][1000 genomes]
rs71439788	1.00[ASN][1000 genomes]
rs71439789	1.00[ASN][1000 genomes]
rs73169477	1.00[ASN][1000 genomes]
rs7328953	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7331927	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7982313	1.00[ASN][1000 genomes]
rs9532285	1.00[ASN][1000 genomes]
rs9532287	1.00[ASN][1000 genomes]
rs9532288	1.00[ASN][1000 genomes]
rs9532294	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9532297	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9532298	1.00[ASN][1000 genomes]
rs9532310	1.00[ASN][1000 genomes]
rs9548466	1.00[ASN][1000 genomes]
rs9548467	1.00[ASN][1000 genomes]
rs9548468	1.00[ASN][1000 genomes]
rs9548471	1.00[ASN][1000 genomes]
rs9548473	1.00[ASN][1000 genomes]
rs9548474	1.00[ASN][1000 genomes]
rs9548475	1.00[ASN][1000 genomes]
rs9548476	1.00[ASN][1000 genomes]
rs9548478	1.00[ASN][1000 genomes]
rs9548479	1.00[ASN][1000 genomes]
rs9548480	1.00[ASN][1000 genomes]
rs9548488	1.00[ASN][1000 genomes]
rs9548489	1.00[ASN][1000 genomes]
rs9548490	1.00[ASN][1000 genomes]
rs9548492	1.00[ASN][1000 genomes]
rs9548493	1.00[ASN][1000 genomes]
rs9548494	1.00[ASN][1000 genomes]
rs9548495	1.00[ASN][1000 genomes]
rs9548496	1.00[ASN][1000 genomes]
rs9548497	1.00[ASN][1000 genomes]
rs9548498	1.00[ASN][1000 genomes]
rs9548499	1.00[ASN][1000 genomes]
rs9548500	1.00[ASN][1000 genomes]
rs9548501	1.00[ASN][1000 genomes]
rs9548502	1.00[ASN][1000 genomes]
rs9548503	1.00[ASN][1000 genomes]
rs9548504	1.00[ASN][1000 genomes]
rs9548505	1.00[ASN][1000 genomes]
rs9548507	1.00[ASN][1000 genomes]
rs9548515	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9548521	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9548523	1.00[ASN][1000 genomes]
rs9548524	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9548525	1.00[ASN][1000 genomes]
rs9548531	1.00[ASN][1000 genomes]
rs9548532	1.00[ASN][1000 genomes]
rs9548535	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9548552	1.00[ASN][1000 genomes]
rs9548554	1.00[ASN][1000 genomes]
rs9548555	1.00[ASN][1000 genomes]
rs9548556	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9548557	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548560	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548569	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548573	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548576	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1053818	chr13:39512274-39533011	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2753642	chr13:39522300-39649000	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv520639	chr13:39525264-39529226	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv976049	chr13:39526141-39537715	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2753553	chr13:39526600-39649000	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv10851	chr13:39528095-39529620	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
8	esv3517841	chr13:39528102-39530143	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
9	esv3517852	chr13:39528102-39530143	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39520200-39541600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:39526200-39529200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:39528000-39532000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:39528200-39529200	Enhancers	HMEC	breast
5	chr13:39528600-39528800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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