Variant report

Variant	rs6990367
Chromosome Location	chr8:50202210-50202211
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	chr8:50201423..50203830-chr8:50212097..50214084,2	K562	blood:
2	chr8:50201423..50204477-chr8:50211622..50215340,4	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10089125	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10091956	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10092444	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs10095176	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10110314	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10111596	0.87[AMR][1000 genomes]
rs10504075	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1383275	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16905547	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16906644	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16939633	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs16939637	1.00[AMR][1000 genomes]
rs2219895	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2726709	0.90[YRI][hapmap]
rs28458224	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs58868654	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6472298	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6472331	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6981837	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6989816	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7001428	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7001632	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7004205	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7012220	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7817386	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7817873	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7827967	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7835124	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9657085	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9694101	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9969500	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
3	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
4	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
5	nsv428517	chr8:50094920-50232993	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv890855	chr8:50109365-50252962	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv890856	chr8:50133485-50272497	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv890857	chr8:50133485-50469764	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv396113	chr8:50200674-50202999	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50201400-50203600	Weak transcription	K562	blood

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