Variant report

No.	Distal block	Cell Line	Cell type
1	chr8:50019288..50021191-chr8:50037884..50039646,2	K562	blood:
2	chr8:50032130..50034951-chr8:50036647..50039869,3	K562	blood:
3	chr8:50036565..50039449-chr8:50040680..50044061,3	K562	blood:
4	chr8:50031366..50035096-chr8:50036647..50040169,3	K562	blood:
5	chr8:50037357..50040620-chr8:50040803..50044061,4	K562	blood:
6	chr8:49957733..49959287-chr8:50036754..50039574,2	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10435575	0.91[EUR][1000 genomes]
rs10504073	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10957363	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11990854	1.00[CEU][hapmap];0.84[JPT][hapmap];0.91[EUR][1000 genomes]
rs13268440	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13270448	0.88[EUR][1000 genomes]
rs1858312	0.91[EUR][1000 genomes]
rs1876717	0.93[EUR][1000 genomes]
rs2137013	0.88[CEU][hapmap]
rs2385229	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2385230	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs341806	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4873093	0.88[CEU][hapmap]
rs4873094	0.90[EUR][1000 genomes]
rs4873095	0.91[EUR][1000 genomes]
rs4873099	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4873100	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4873308	0.80[EUR][1000 genomes]
rs4873310	0.91[EUR][1000 genomes]
rs6983929	1.00[CEU][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6984804	0.96[CEU][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7005693	1.00[CEU][hapmap];0.84[JPT][hapmap];0.91[EUR][1000 genomes]
rs7011891	1.00[CEU][hapmap];0.90[EUR][1000 genomes]

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	nsv1025068	chr8:49953397-50370208	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1023325	chr8:49994793-50050571	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv1793350	chr8:50013702-50102628	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1034908	chr8:50023423-50416049	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv539601	chr8:50023423-50416049	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1024410	chr8:50037085-50511501	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs186891	C8orf22	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50038400-50039000	Active TSS	K562	blood

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