Variant report

Variant	rs62527609
Chromosome Location	chr8:104156038-104156039
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:104155000-104156171	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:104154846..104157395-chr8:104406114..104408139,2	MCF-7	breast:
2	chr8:104149065..104151675-chr8:104155454..104157651,2	MCF-7	breast:
3	chr8:104153176..104156099-chr8:104164228..104166566,2	MCF-7	breast:

Variant related genes	Relation type
C8orf56	TF binding region
ENSG00000164929	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs55912746	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62527601	0.91[EUR][1000 genomes]
rs62527602	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62527603	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62527604	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62527614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62527615	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62527633	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62527634	1.00[EUR][1000 genomes]
rs6994827	1.00[EUR][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	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104153600-104156200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
2	chr8:104153600-104159000	Weak transcription	Spleen	Spleen
3	chr8:104153800-104161200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:104154000-104159800	Weak transcription	Pancreas	Pancrea
5	chr8:104154000-104177200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:104154200-104160800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:104154800-104156400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:104154800-104160200	Weak transcription	Adipose Nuclei	Adipose
9	chr8:104155000-104156200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:104155000-104156400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:104155200-104156200	Enhancers	NHDF-Ad	bronchial
12	chr8:104155200-104156400	Enhancers	Brain Hippocampus Middle	brain
13	chr8:104155200-104156400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:104155200-104163200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:104155400-104156200	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr8:104155600-104156200	Flanking Active TSS	Brain Substantia Nigra	brain
17	chr8:104155600-104156800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:104155600-104158600	Weak transcription	Aorta	Aorta
19	chr8:104155600-104159800	Weak transcription	Lung	lung
20	chr8:104155600-104162800	Weak transcription	Fetal Brain Female	brain
21	chr8:104155600-104165400	Genic enhancers	Primary hematopoietic stem cells	blood
22	chr8:104155800-104156400	Enhancers	Osteobl	bone
23	chr8:104155800-104156600	Enhancers	Brain Cingulate Gyrus	brain
24	chr8:104155800-104161200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:104156000-104156200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:104156000-104156200	Flanking Active TSS	Brain Angular Gyrus	brain
27	chr8:104156000-104156400	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:104156000-104157200	Weak transcription	NHLF	lung
29	chr8:104156000-104157400	Weak transcription	Brain Anterior Caudate	brain
30	chr8:104156000-104157600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:104156000-104161200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr8:104156000-104163600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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