Variant report

Variant	rs6565285
Chromosome Location	chr16:31812442-31812443
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:31812415-31812986	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000261457	TF binding region

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10871458	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11150638	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1156903	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11644104	1.00[CEU][hapmap]
rs12716999	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12717000	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1406177	0.82[JPT][hapmap]
rs1528319	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1881316	0.82[JPT][hapmap]
rs1919042	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2078924	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2106579	0.93[CEU][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2157970	0.93[CEU][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2188619	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2359219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2359222	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2359226	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2359455	0.93[CEU][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28427454	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2884713	0.93[CEU][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap]
rs4620975	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4889553	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4889555	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4889688	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4889689	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4889693	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62054710	0.80[EUR][1000 genomes]
rs6565275	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6565278	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6565280	0.93[CEU][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6565282	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6565286	0.85[CEU][hapmap];0.83[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6565287	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67922432	0.80[EUR][1000 genomes]
rs7188627	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7190730	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7191481	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7206536	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs727349	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8048591	0.93[CEU][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap]
rs8049323	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8053712	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8060086	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8062902	0.93[CEU][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs916753	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs929208	0.93[CEU][hapmap];0.82[JPT][hapmap];0.96[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9921898	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9928006	0.87[CEU][hapmap];0.89[GIH][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9929892	0.93[CEU][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9930700	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9936002	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9938037	0.93[CEU][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
2	esv3344221	chr16:31526786-31821640	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	esv3323903	chr16:31526802-31821640	Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	esv3504445	chr16:31526873-31821580	Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	esv3504446	chr16:31526873-31821580	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	esv3366795	chr16:31534951-31827424	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
7	nsv1067321	chr16:31652036-31959992	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
8	nsv918074	chr16:31669781-31935033	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	nsv1063037	chr16:31669981-31934894	Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv542903	chr16:31669981-31934894	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv905761	chr16:31730525-31812442	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv3446880	chr16:31734687-31891223	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6565285	CLUHP3	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31801800-31813000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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