Variant report

Variant	rs144308509
Chromosome Location	chr8:117885061-117885062
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr8:117884788-117885187	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:117885004-117885113	ProgFib	skin:	n/a	n/a
3	POLR2A	chr8:117884534-117887510	Hela-S3	cervix:	n/a	n/a
4	WRNIP1	chr8:117884996-117885369	GM12878	blood:	n/a	n/a
5	IRF1	chr8:117884816-117886172	K562	blood:	n/a	n/a
6	JUND	chr8:117884992-117885142	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr8:117882604-117887373	K562	blood:	n/a	n/a
8	MXI1	chr8:117885043-117887774	SK-N-SH	brain:	n/a	n/a
9	BRCA1	chr8:117884921-117885939	Hela-S3	cervix:	n/a	n/a
10	TBP	chr8:117884862-117886182	Hela-S3	cervix:	n/a	n/a
11	TBL1XR1	chr8:117885002-117885331	K562	blood:	n/a	n/a
12	RCOR1	chr8:117884930-117885338	K562	blood:	n/a	n/a
13	POLR2A	chr8:117885006-117885073	Hela-S3	cervix:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:117777450..117780279-chr8:117883824..117887176,3	MCF-7	breast:
2	chr12:120517214..120519596-chr8:117884799..117887415,2	MCF-7	breast:
3	chr8:117777051..117780452-chr8:117884154..117888588,6	K562	blood:

No data

Variant related genes	Relation type
RAD21-AS1	TF binding region
ENSG00000135127	Chromatin interaction
ENSG00000147679	Chromatin interaction
ENSG00000147677	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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv891407	chr8:117881393-117895239	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	nsv891408	chr8:117884270-117895239	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117860400-117885800	Weak transcription	Esophagus	oesophagus
2	chr8:117864400-117885800	Weak transcription	Gastric	stomach
3	chr8:117865200-117885800	Weak transcription	Pancreas	Pancrea
4	chr8:117865600-117885800	Weak transcription	Spleen	Spleen
5	chr8:117867000-117885200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:117867000-117885600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:117878800-117885800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr8:117881200-117887800	Active TSS	GM12878-XiMat	blood
9	chr8:117881600-117885200	Enhancers	Colon Smooth Muscle	Colon
10	chr8:117881600-117885200	Enhancers	Small Intestine	intestine
11	chr8:117881800-117885600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:117881800-117885800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:117882400-117885200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:117882400-117885600	Enhancers	Primary B cells from peripheral blood	blood
15	chr8:117882600-117885800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:117882800-117885400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr8:117882800-117885600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr8:117883000-117885200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr8:117883200-117885200	Enhancers	Brain Cingulate Gyrus	brain
20	chr8:117883200-117885200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr8:117883200-117885800	Weak transcription	Lung	lung
22	chr8:117883400-117885200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:117883400-117885200	Weak transcription	Placenta	Placenta
24	chr8:117883400-117885600	Weak transcription	Left Ventricle	heart
25	chr8:117883600-117887600	Active TSS	HSMMtube	muscle
26	chr8:117883800-117885200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:117883800-117885400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr8:117884000-117885200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:117884000-117885200	Flanking Active TSS	Dnd41	blood
30	chr8:117884000-117885600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:117884000-117885600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:117884000-117886000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:117884000-117887800	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr8:117884000-117887800	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr8:117884200-117885200	Enhancers	Brain Anterior Caudate	brain
36	chr8:117884200-117885400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr8:117884200-117885600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:117884200-117887600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:117884200-117887600	Active TSS	K562	blood
40	chr8:117884400-117885200	Flanking Active TSS	NHEK	skin
41	chr8:117884400-117885400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:117884400-117885400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr8:117884400-117885400	Flanking Active TSS	Brain Germinal Matrix	brain
44	chr8:117884400-117885600	Enhancers	Colonic Mucosa	Colon
45	chr8:117884400-117885800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr8:117884400-117885800	Flanking Active TSS	HUVEC	blood vessel
47	chr8:117884400-117887600	Active TSS	Thymus	Thymus
48	chr8:117884400-117887800	Active TSS	A549	lung
49	chr8:117884600-117885200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:117884600-117885200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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