Variant report

Variant	rs13196680
Chromosome Location	chr6:4095873-4095874
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11751209	1.00[EUR][1000 genomes]
rs11753085	1.00[EUR][1000 genomes]
rs11759470	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13197380	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13199593	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13200044	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13200786	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13203009	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13204803	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13205642	0.87[CEU][hapmap];1.00[GIH][hapmap]
rs13209091	0.98[EUR][1000 genomes]
rs13209389	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13209492	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13210029	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13210282	0.87[CEU][hapmap];1.00[GIH][hapmap]
rs13210391	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13220866	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2745454	0.87[CEU][hapmap];1.00[CHD][hapmap];0.87[TSI][hapmap]
rs35304946	1.00[EUR][1000 genomes]
rs35686761	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6597030	0.87[CEU][hapmap];1.00[GIH][hapmap]
rs715165	0.87[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[AMR][1000 genomes]
rs71547255	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9328218	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9328222	0.87[CEU][hapmap];1.00[GIH][hapmap]
rs9689605	0.87[CEU][hapmap];1.00[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532020	chr6:3417520-4140257	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1022968	chr6:3862744-4272502	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv538106	chr6:3862744-4272502	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv462615	chr6:4052383-4096678	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv600860	chr6:4052383-4096678	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS 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	9 gene(s)	inside rSNPs	diseases
6	nsv1030104	chr6:4062894-4240269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13196680	PRPF4B	cis	parietal	SCAN
rs13196680	DUSP22	cis	parietal	SCAN
rs13196680	F13A1	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4090800-4103000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:4092600-4103000	Weak transcription	Pancreas	Pancrea
3	chr6:4095400-4096400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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