Variant report

Variant	rs62527615
Chromosome Location	chr8:104162979-104162980
allele	C/T
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	FOXP2	chr8:104162957-104163241	PFSK-1	brain:	n/a	n/a
2	TAF1	chr8:104162911-104163208	PFSK-1	brain:	n/a	n/a
3	REST	chr8:104162919-104163251	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104162104..104164227-chr8:104176288..104178946,2	MCF-7	breast:

Variant related genes	Relation type
BAALC	TF binding region
MIR3151	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62527604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62527609	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62527611	0.84[AFR][1000 genomes]
rs62527614	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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104154000-104177200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:104155200-104163200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:104155600-104165400	Genic enhancers	Primary hematopoietic stem cells	blood
4	chr8:104156000-104163600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:104156400-104164200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:104156400-104164200	Weak transcription	Osteobl	bone
7	chr8:104158200-104164600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:104159200-104163600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:104159800-104166200	Enhancers	Brain Cingulate Gyrus	brain
10	chr8:104160200-104163600	Weak transcription	Right Ventricle	heart
11	chr8:104161600-104163000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:104161600-104163600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:104161600-104163600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:104161600-104163600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:104161600-104163600	Weak transcription	Lung	lung
16	chr8:104161600-104166200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr8:104161800-104163000	Weak transcription	Fetal Stomach	stomach
18	chr8:104162000-104163200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
19	chr8:104162000-104165600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
20	chr8:104162000-104168000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:104162200-104164400	Enhancers	Brain Angular Gyrus	brain
22	chr8:104162400-104166200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:104162400-104169000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:104162600-104163000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr8:104162600-104163600	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr8:104162600-104164000	Enhancers	Brain Hippocampus Middle	brain
27	chr8:104162600-104165600	Enhancers	Adipose Nuclei	Adipose
28	chr8:104162600-104166000	Enhancers	Left Ventricle	heart
29	chr8:104162600-104166800	Enhancers	Brain Substantia Nigra	brain
30	chr8:104162800-104163000	Enhancers	Fetal Brain Female	brain
31	chr8:104162800-104163000	Enhancers	Right Atrium	heart
32	chr8:104162800-104163000	Enhancers	Spleen	Spleen
33	chr8:104162800-104163400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:104162800-104164000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:104162800-104164000	Enhancers	Brain Anterior Caudate	brain
36	chr8:104162800-104164000	Weak transcription	Fetal Brain Male	brain
37	chr8:104162800-104165400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:104162800-104165600	Enhancers	Primary B cells from peripheral blood	blood
39	chr8:104162800-104166000	Enhancers	HUVEC	blood vessel
40	chr8:104162800-104166200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr8:104162800-104172600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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