Variant report

Variant	rs4713782
Chromosome Location	chr6:34401281-34401282
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	chr6:34201904..34204640-chr6:34398022..34401494,3	K562	blood:
2	chr6:34201904..34204640-chr6:34398634..34402211,3	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10484268	0.90[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs1057691	0.90[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap]
rs1060308	0.90[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs1265	0.90[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs13466	0.90[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs16883137	0.90[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs16883475	0.90[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs16883896	0.90[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs17628798	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17629180	0.90[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs17629270	0.90[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs17696583	0.90[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs17696774	0.90[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs206922	0.90[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3798554	0.83[CEU][hapmap]
rs3798557	0.90[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs41269032	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs41269038	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs55694290	0.80[EUR][1000 genomes]
rs55798596	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6457775	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6911272	0.90[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs7738665	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7741127	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7770443	0.81[TSI][hapmap]
rs875274	0.90[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs9368811	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4713782	NUP210	trans	brain	seeQTL
rs4713782	NUDT3	cis	multi-tissue	Pritchard
rs4713782	NUDT3	cis	parietal	SCAN
rs4713782	LEMD2	cis	brain	seeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34394200-34409200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:34394400-34433200	Weak transcription	Right Atrium	heart

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