Variant report

Variant	rs56263906
Chromosome Location	chr8:122468567-122468568
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs55779756	1.00[AMR][1000 genomes]
rs56283702	1.00[AMR][1000 genomes]
rs56374406	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57011159	1.00[AMR][1000 genomes]
rs58114067	1.00[AMR][1000 genomes]
rs58685682	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59511333	1.00[AMR][1000 genomes]
rs59752843	1.00[AMR][1000 genomes]
rs60444732	1.00[AMR][1000 genomes]
rs73328429	1.00[AMR][1000 genomes]
rs73328443	1.00[AMR][1000 genomes]
rs73330208	1.00[AMR][1000 genomes]
rs73330237	1.00[AMR][1000 genomes]
rs73330261	1.00[AMR][1000 genomes]
rs73330264	1.00[AMR][1000 genomes]
rs73332330	1.00[AMR][1000 genomes]
rs73332337	1.00[AMR][1000 genomes]
rs73332341	1.00[AMR][1000 genomes]
rs73332347	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73332353	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73709847	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831445	chr8:122336877-122509300	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv891427	chr8:122411349-122472297	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
3	nsv527877	chr8:122426082-122472297	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
4	nsv1033501	chr8:122436332-122758651	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122465600-122468800	Enhancers	Brain Germinal Matrix	brain
2	chr8:122466200-122468600	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr8:122467000-122472000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:122467200-122471800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:122467200-122471800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:122467200-122472000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:122467200-122481600	Weak transcription	NHLF	lung
8	chr8:122467400-122471800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:122467400-122471800	Weak transcription	HMEC	breast
10	chr8:122467400-122471800	Weak transcription	NHEK	skin
11	chr8:122467400-122471800	Weak transcription	Osteobl	bone
12	chr8:122467400-122472000	Weak transcription	NH-A	brain
13	chr8:122467600-122471800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:122467600-122471800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr8:122467600-122472000	Weak transcription	NHDF-Ad	bronchial
16	chr8:122467600-122472200	Weak transcription	Hela-S3	cervix
17	chr8:122467800-122468600	Enhancers	Brain Hippocampus Middle	brain
18	chr8:122467800-122470600	Weak transcription	HUVEC	blood vessel
19	chr8:122468000-122468600	Enhancers	Fetal Kidney	kidney
20	chr8:122468000-122470800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:122468200-122470800	Weak transcription	Fetal Muscle Leg	muscle
22	chr8:122468400-122468600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:122468400-122468600	Enhancers	Fetal Heart	heart

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