Variant report

Variant	rs563253510
Chromosome Location	chr8:86088654-86088655
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr8:86088621-86091242	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr8:86088588-86091108	MCF10A-Er-Src	breast:	n/a	n/a
3	MYC	chr8:86088540-86090473	A549	lung:	n/a	chr8:86089407-86089417 chr8:86090163-86090172
4	POLR2A	chr8:86088552-86090819	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr8:86088460-86091201	Raji	blood:	n/a	n/a
6	POLR2A	chr8:86088438-86091735	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:86088170..86090782-chr8:86116952..86119231,3	MCF-7	breast:
2	chr8:86088356..86092364-chr8:86131123..86134666,8	MCF-7	breast:
3	chr8:86088150..86092119-chr8:86130217..86134794,5	K562	blood:
4	chr8:86016436..86019868-chr8:86087554..86092567,7	K562	blood:
5	chr8:86087523..86090287-chr8:86131220..86133061,4	K562	blood:
6	chr8:86088302..86092423-chr8:86099880..86105553,7	MCF-7	breast:
7	chr8:86088315..86091850-chr8:86128947..86134706,9	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf59-2	chr8:86088034-86089297	ENSG00000260493.1

No data

Variant related genes	Relation type
E2F5	TF binding region
ENSG00000185015	Chromatin interaction
ENSG00000176731	Chromatin interaction
ENSG00000133740	Chromatin interaction
ENSG00000133739	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	esv3481417	chr8:85279453-86145229	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv3481418	chr8:85279453-86145229	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv1799571	chr8:86064130-86105803	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a
4	esv3401841	chr8:86088225-86091073	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86084000-86088800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:86084600-86088800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:86084600-86088800	Weak transcription	Primary T cells from cord blood	blood
4	chr8:86084800-86088800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:86084800-86088800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr8:86085200-86088800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:86085400-86088800	Weak transcription	Liver	Liver
8	chr8:86085600-86088800	Weak transcription	HepG2	liver
9	chr8:86086800-86088800	Enhancers	Primary hematopoietic stem cells	blood
10	chr8:86087000-86089000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:86087200-86088800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:86087200-86088800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:86087200-86088800	Enhancers	Fetal Thymus	thymus
14	chr8:86087400-86088800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:86087600-86088800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:86087600-86089000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:86088000-86088800	Enhancers	Primary B cells from peripheral blood	blood
18	chr8:86088200-86088800	Enhancers	Primary T cells fromperipheralblood	blood
19	chr8:86088200-86088800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr8:86088200-86088800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr8:86088400-86088800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr8:86088600-86088800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr8:86088600-86088800	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr8:86088600-86088800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:86088600-86088800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:86088600-86088800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:86088600-86088800	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr8:86088600-86088800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr8:86088600-86088800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr8:86088600-86088800	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr8:86088600-86088800	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr8:86088600-86088800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:86088600-86088800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr8:86088600-86088800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:86088600-86088800	Enhancers	Brain Angular Gyrus	brain
36	chr8:86088600-86088800	Enhancers	Brain Hippocampus Middle	brain
37	chr8:86088600-86088800	Enhancers	Colon Smooth Muscle	Colon
38	chr8:86088600-86088800	Enhancers	Duodenum Mucosa	Duodenum
39	chr8:86088600-86088800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr8:86088600-86088800	Enhancers	Fetal Heart	heart
41	chr8:86088600-86088800	Enhancers	Fetal Kidney	kidney
42	chr8:86088600-86088800	Enhancers	Fetal Lung	lung
43	chr8:86088600-86088800	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr8:86088600-86088800	Enhancers	Rectal Smooth Muscle	rectum
45	chr8:86088600-86088800	Enhancers	Thymus	Thymus
46	chr8:86088600-86088800	Enhancers	Hela-S3	cervix
47	chr8:86088600-86088800	Enhancers	HMEC	breast
48	chr8:86088600-86088800	Enhancers	HSMM	muscle
49	chr8:86088600-86088800	Enhancers	NH-A	brain
50	chr8:86088600-86088800	Enhancers	NHLF	lung

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