Variant report

Variant	rs56759325
Chromosome Location	chr8:117884805-117884806
allele	-/CA/CACA
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	FOXA1	chr8:117884788-117885187	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:117884534-117887510	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr8:117882604-117887373	K562	blood:	n/a	n/a

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:

Variant related genes	Relation type
RAD21-AS1	TF binding region
ENSG00000135127	Chromatin interaction
ENSG00000147679	Chromatin interaction
ENSG00000147677	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv370751	chr8:117884804-117884805	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 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	chr8:117877400-117885000	Enhancers	Fetal Heart	heart
8	chr8:117878800-117885800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr8:117879600-117885000	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr8:117881200-117887800	Active TSS	GM12878-XiMat	blood
11	chr8:117881600-117885200	Enhancers	Colon Smooth Muscle	Colon
12	chr8:117881600-117885200	Enhancers	Small Intestine	intestine
13	chr8:117881800-117885600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:117881800-117885800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:117882200-117885000	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr8:117882400-117885200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:117882400-117885600	Enhancers	Primary B cells from peripheral blood	blood
18	chr8:117882600-117885800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:117882800-117885400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr8:117882800-117885600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr8:117883000-117885000	Enhancers	Brain Hippocampus Middle	brain
22	chr8:117883000-117885200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr8:117883200-117885000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:117883200-117885200	Enhancers	Brain Cingulate Gyrus	brain
25	chr8:117883200-117885200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr8:117883200-117885800	Weak transcription	Lung	lung
27	chr8:117883400-117885000	Weak transcription	Ovary	ovary
28	chr8:117883400-117885200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:117883400-117885200	Weak transcription	Placenta	Placenta
30	chr8:117883400-117885600	Weak transcription	Left Ventricle	heart
31	chr8:117883600-117887600	Active TSS	HSMMtube	muscle
32	chr8:117883800-117885200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:117883800-117885400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr8:117884000-117885000	Enhancers	Primary B cells from cord blood	blood
35	chr8:117884000-117885000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr8:117884000-117885200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:117884000-117885200	Flanking Active TSS	Dnd41	blood
38	chr8:117884000-117885600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:117884000-117885600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:117884000-117886000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:117884000-117887800	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr8:117884000-117887800	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr8:117884200-117885000	Enhancers	Fetal Stomach	stomach
44	chr8:117884200-117885000	Weak transcription	Stomach Mucosa	stomach
45	chr8:117884200-117885200	Enhancers	Brain Anterior Caudate	brain
46	chr8:117884200-117885400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr8:117884200-117885600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:117884200-117887600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:117884200-117887600	Active TSS	K562	blood
50	chr8:117884400-117885000	Enhancers	Primary T cells from cord blood	blood

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