Variant report

Variant	rs6864713
Chromosome Location	chr5:80201284-80201285
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10064927	0.89[AFR][1000 genomes]
rs10078319	0.85[AFR][1000 genomes]
rs1008119	0.84[ASN][1000 genomes]
rs10942930	0.88[ASN][1000 genomes]
rs10942931	0.97[ASN][1000 genomes]
rs10942932	0.91[ASN][1000 genomes]
rs12521082	0.87[ASN][1000 genomes]
rs12522063	0.97[ASN][1000 genomes]
rs13159448	0.85[AFR][1000 genomes]
rs13190118	0.85[AFR][1000 genomes]
rs13190129	0.83[AFR][1000 genomes]
rs1363365	0.87[ASN][1000 genomes]
rs1428030	0.81[JPT][hapmap]
rs16878204	0.83[ASN][1000 genomes]
rs1979005	0.92[ASN][1000 genomes]
rs2112416	0.87[ASN][1000 genomes]
rs245347	0.82[YRI][hapmap]
rs245352	0.82[YRI][hapmap]
rs35198573	0.93[AFR][1000 genomes]
rs3776969	0.81[JPT][hapmap]
rs3797885	0.81[JPT][hapmap]
rs3797897	0.90[ASN][1000 genomes]
rs4703819	0.82[ASN][1000 genomes]
rs4704686	0.92[ASN][1000 genomes]
rs4704687	0.92[ASN][1000 genomes]
rs4704690	0.81[ASN][1000 genomes]
rs55928960	0.83[ASN][1000 genomes]
rs56382955	0.95[ASN][1000 genomes]
rs56872707	0.94[AFR][1000 genomes]
rs57067128	0.82[ASN][1000 genomes]
rs58508689	0.90[ASN][1000 genomes]
rs6151826	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs6151892	0.81[ASN][1000 genomes]
rs6151901	0.90[ASN][1000 genomes]
rs6151909	0.83[ASN][1000 genomes]
rs6858962	0.94[AFR][1000 genomes]
rs6869680	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6885935	0.97[ASN][1000 genomes]
rs72765588	0.87[ASN][1000 genomes]
rs72765590	0.81[ASN][1000 genomes]
rs72765599	0.92[ASN][1000 genomes]
rs72767343	0.99[ASN][1000 genomes]
rs73137557	0.82[ASN][1000 genomes]
rs7700440	0.85[AFR][1000 genomes]
rs7732559	0.82[AFR][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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv598747	chr5:79996632-80322712	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1016100	chr5:80023679-80254194	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1021784	chr5:80023679-80313586	ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv537787	chr5:80023679-80313586	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv1799323	chr5:80179312-80219650	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv830358	chr5:80197105-80358920	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6864713	PAPD4	cis	cerebellum	SCAN
rs6864713	ZFYVE16	cis	parietal	SCAN
rs6864713	SCAMP1	cis	parietal	SCAN
rs6864713	DP58	cis	multi-tissue	Pritchard

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80173600-80208000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr5:80180400-80215000	Weak transcription	Fetal Kidney	kidney
3	chr5:80197600-80207000	Weak transcription	Pancreas	Pancrea
4	chr5:80197600-80207600	Weak transcription	Aorta	Aorta
5	chr5:80197800-80208200	Weak transcription	Liver	Liver
6	chr5:80198000-80202000	Weak transcription	Primary T cells from cord blood	blood

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