Variant report

Variant	rs11995366
Chromosome Location	chr8:105633850-105633851
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:105633309..105635428-chr8:105716252..105717925,2	K562	blood:
2	chr8:105630786..105634660-chr8:105658746..105662326,3	K562	blood:
3	chr8:105632219..105634989-chr8:105652187..105654081,2	K562	blood:
4	chr8:105633597..105636250-chr8:105676084..105679408,5	K562	blood:
5	chr8:105631159..105633895-chr8:105682991..105685901,2	K562	blood:
6	chr8:105627700..105631260-chr8:105632105..105636974,7	K562	blood:
7	chr8:105598411..105603796-chr8:105629010..105634697,11	K562	blood:
8	chr8:105632918..105635015-chr8:105646007..105648866,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000147650	Chromatin interaction
ENSG00000253350	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10429349	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11985102	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11985107	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11985915	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11988545	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11988673	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11988817	1.00[AMR][1000 genomes]
rs11990136	1.00[AFR][1000 genomes]
rs11992187	1.00[AMR][1000 genomes]
rs11992473	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11993150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11996875	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11997098	1.00[AMR][1000 genomes]
rs11998493	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12114034	1.00[AMR][1000 genomes]
rs12114649	1.00[AMR][1000 genomes]
rs1438354	1.00[AMR][1000 genomes]
rs28491098	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35172462	1.00[AMR][1000 genomes]
rs4562284	0.85[AFR][1000 genomes];1.00[AMR][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	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv2422460	chr8:105573376-105746329	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1032476	chr8:105609904-106030916	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv539710	chr8:105609904-106030916	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105630400-105634600	Weak transcription	Primary T cells from cord blood	blood
2	chr8:105631200-105635200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:105631400-105634200	Weak transcription	Thymus	Thymus
4	chr8:105633000-105634000	Enhancers	K562	blood
5	chr8:105633400-105634400	Enhancers	Dnd41	blood
6	chr8:105633800-105634000	Enhancers	GM12878-XiMat	blood

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