Variant report

Variant	rs62527614
Chromosome Location	chr8:104158129-104158130
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:104157841-104158266	MCF-7	breast:	n/a	n/a
2	CTCF	chr8:104157872-104158131	K562	blood:	n/a	n/a
3	RAD21	chr8:104157801-104158225	MCF-7	breast:	n/a	n/a
4	MAFK	chr8:104158044-104158307	HepG2	liver:	n/a	n/a
5	CTCF	chr8:104158080-104158230	HPAF	blood vessel:	n/a	n/a
6	RAD21	chr8:104157889-104158152	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr8:104157768-104158183	HCT-116	colon:	n/a	n/a
8	CTCF	chr8:104157871-104158159	GM12878	blood:	n/a	n/a
9	RAD21	chr8:104157742-104158340	HCT-116	colon:	n/a	n/a
10	CTCF	chr8:104158000-104158150	NHEK	skin:	n/a	n/a
11	RAD21	chr8:104157849-104158184	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr8:104157980-104158130	RPTEC	kidney:	n/a	n/a
13	CTCF	chr8:104157813-104158235	HCT-116	colon:	n/a	n/a
14	RAD21	chr8:104157886-104158233	MCF-7	breast:	n/a	n/a
15	RAD21	chr8:104157798-104158146	ECC-1	luminal epithelium:	n/a	n/a
16	RAD21	chr8:104157860-104158151	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr8:104158000-104158150	HEEpiC	esophagus:	n/a	n/a
18	RAD21	chr8:104157690-104158381	HCT-116	colon:	n/a	n/a
19	RAD21	chr8:104157906-104158158	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:104080984..104083736-chr8:104156415..104159338,2	MCF-7	breast:
2	chr8:104157676..104158176-chr8:104385392..104385908,2	MCF-7	breast:
3	chr8:104156664..104158879-chr8:104277049..104279566,2	MCF-7	breast:
4	chr8:104157697..104158495-chr8:104276943..104277509,2	MCF-7	breast:

No data

Variant related genes	Relation type
C8orf56	TF binding region

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]
rs62527609	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104153600-104159000	Weak transcription	Spleen	Spleen
2	chr8:104153800-104161200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:104154000-104159800	Weak transcription	Pancreas	Pancrea
4	chr8:104154000-104177200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:104154200-104160800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:104154800-104160200	Weak transcription	Adipose Nuclei	Adipose
7	chr8:104155200-104163200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:104155600-104158600	Weak transcription	Aorta	Aorta
9	chr8:104155600-104159800	Weak transcription	Lung	lung
10	chr8:104155600-104162800	Weak transcription	Fetal Brain Female	brain
11	chr8:104155600-104165400	Genic enhancers	Primary hematopoietic stem cells	blood
12	chr8:104155800-104161200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:104156000-104161200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr8:104156000-104163600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:104156200-104158400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:104156200-104159800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
17	chr8:104156400-104164200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:104156400-104164200	Weak transcription	Osteobl	bone
19	chr8:104157000-104158600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:104157400-104159200	Enhancers	Brain Anterior Caudate	brain
21	chr8:104157400-104159200	Genic enhancers	Brain Cingulate Gyrus	brain
22	chr8:104157600-104158400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:104157600-104158800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:104157600-104159200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:104157600-104159200	Enhancers	Brain Angular Gyrus	brain
26	chr8:104158000-104158200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:104158000-104159400	Enhancers	Brain Substantia Nigra	brain
28	chr8:104158000-104161600	Enhancers	Brain Hippocampus Middle	brain

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