Variant report

Variant	rs566983543
Chromosome Location	chr8:87494809-87494810
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:87494752-87495166	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:87494690-87495183	K562	blood:	n/a	n/a
3	POLR2A	chr8:87489172-87495272	HepG2	liver:	n/a	n/a
4	RAD21	chr8:87494800-87495097	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr8:87494720-87494870	GM12872	blood:	n/a	n/a
6	CTCF	chr8:87494787-87495155	GM12878	blood:	n/a	n/a
7	POLR2A	chr8:87494573-87495249	MCF-7	breast:	n/a	n/a
8	RAD21	chr8:87494741-87495196	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr8:87494632-87495329	A549	lung:	n/a	n/a
10	POLR2A	chr8:87494700-87494996	ProgFib	skin:	n/a	n/a
11	CTCF	chr8:87494754-87495095	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr8:87494809-87495128	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:87488822..87490352-chr8:87494282..87496966,2	MCF-7	breast:
2	chr8:87492324..87497991-chr8:87518822..87522169,6	MCF-7	breast:
3	chr8:87485122..87487844-chr8:87492423..87496426,3	K562	blood:
4	chr8:87485122..87487752-chr8:87491882..87495380,3	K562	blood:
5	chr8:87493659..87498581-chr8:87498622..87502865,4	MCF-7	breast:
6	chr8:87489077..87491109-chr8:87492841..87495174,2	K562	blood:

No data

Variant related genes	Relation type
RMDN1	TF binding region
CPNE3	TF binding region
ENSG00000176623	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	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv933966	chr8:87454655-87591558	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv971680	chr8:87494100-87495999	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87441800-87507600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:87448800-87502800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:87457400-87507400	Weak transcription	Brain Angular Gyrus	brain
4	chr8:87459200-87499600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:87471000-87497800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:87474000-87517000	Weak transcription	Small Intestine	intestine
7	chr8:87479600-87499400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:87481800-87507400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr8:87481800-87507600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr8:87481800-87507600	Weak transcription	Esophagus	oesophagus
11	chr8:87482000-87496400	Weak transcription	Brain Anterior Caudate	brain
12	chr8:87482000-87507600	Weak transcription	Fetal Brain Male	brain
13	chr8:87482000-87508200	Weak transcription	Fetal Heart	heart
14	chr8:87482000-87508400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:87482200-87495800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:87482200-87496400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:87482200-87507600	Weak transcription	Colonic Mucosa	Colon
18	chr8:87482400-87517000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr8:87482800-87496400	Weak transcription	Brain Germinal Matrix	brain
20	chr8:87482800-87503400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:87482800-87506600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:87482800-87519600	Weak transcription	HUVEC	blood vessel
23	chr8:87483000-87508400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:87483200-87505400	Weak transcription	Hela-S3	cervix
25	chr8:87485000-87501200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr8:87486400-87496200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr8:87487600-87507400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr8:87488200-87507400	Weak transcription	Colon Smooth Muscle	Colon
29	chr8:87488200-87507600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr8:87488400-87519800	Weak transcription	Psoas Muscle	Psoas
31	chr8:87488800-87505400	Weak transcription	Stomach Mucosa	stomach
32	chr8:87489000-87499600	Strong transcription	HSMM	muscle
33	chr8:87490400-87507400	Weak transcription	HSMMtube	muscle
34	chr8:87490600-87495600	Weak transcription	NHEK	skin
35	chr8:87491200-87496200	Weak transcription	NHDF-Ad	bronchial
36	chr8:87491200-87498000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr8:87491200-87507600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr8:87491400-87495600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:87492800-87499600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:87493200-87496200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:87493200-87499600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:87493200-87500200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:87493800-87495200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:87493800-87495200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:87493800-87495200	Strong transcription	GM12878-XiMat	blood
46	chr8:87493800-87497600	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:87493800-87498200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:87493800-87498400	Strong transcription	Fetal Intestine Large	intestine
49	chr8:87493800-87498800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr8:87493800-87499000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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