Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:166718072..166719641-chr6:166743205..166745434,2	K562	blood:
2	chr6:166709970..166712406-chr6:166716038..166718668,2	K562	blood:

Variant related genes	Relation type
ENSG00000198818	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10946157	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13204594	0.87[CEU][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];0.91[MEX][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1998167	1.00[CEU][hapmap];0.86[CHD][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3926288	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4441936	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4710037	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4710038	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4710039	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6456073	0.81[AMR][1000 genomes]
rs6921353	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6921526	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7757150	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7759638	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7772415	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs911203	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9295332	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9295333	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9295335	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9347121	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9366002	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886934	chr6:166642850-166747572	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv886935	chr6:166704744-166726566	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv886936	chr6:166714024-166731289	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1998168	BRP44L	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166715600-166719400	Enhancers	Brain Hippocampus Middle	brain
2	chr6:166716600-166719200	Weak transcription	Liver	Liver
3	chr6:166717000-166720200	Weak transcription	Pancreas	Pancrea
4	chr6:166717600-166719000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
5	chr6:166717600-166719200	Enhancers	Brain Substantia Nigra	brain
6	chr6:166717800-166719200	Enhancers	Brain Anterior Caudate	brain
7	chr6:166718200-166719200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr6:166718600-166718800	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr6:166718600-166719000	Bivalent Enhancer	Brain Angular Gyrus	brain

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