Variant report

Variant	esv2597073
Chromosome Location	chr14:69729433-69729433
allele	n/a
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:5)
LncRNA
region (count:0)
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	CTBP2	chr14:69727025-69729465	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr14:69729300-69729450	HepG2	liver:	n/a	n/a
3	CTCF	chr14:69729340-69729490	MCF-7	breast:	n/a	n/a
4	CTCF	chr14:69729184-69729521	GM12878	blood:	n/a	n/a
5	CTCF	chr14:69729300-69729450	MCF-7	breast:	n/a	n/a
6	RAD21	chr14:69729256-69729497	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69716336..69718485-chr14:69728021..69730750,2	MCF-7	breast:
2	chr14:69727618..69729790-chr14:69814011..69815808,2	MCF-7	breast:
3	chr14:69727858..69730581-chr14:69738722..69740609,2	MCF-7	breast:
4	chr14:69725007..69726922-chr14:69727480..69730109,2	MCF-7	breast:
5	chr14:69728770..69731515-chr14:69782334..69785257,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258520	TF binding region
ENSG00000100626	chromatin interactions

Extended variants
information (count: 0)
Associated
traits (count: 68 )

No data

Variant related diseases (count:68)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69727800-69729800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr14:69727800-69730200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr14:69728200-69730200	Enhancers	HSMM	muscle
4	chr14:69728200-69730400	Enhancers	HSMMtube	muscle
5	chr14:69728200-69732200	Weak transcription	Aorta	Aorta
6	chr14:69728400-69729600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:69728400-69729600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:69728400-69729600	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr14:69728400-69730200	Enhancers	Brain Substantia Nigra	brain
10	chr14:69728400-69730800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr14:69728400-69733400	Weak transcription	Pancreas	Pancrea
12	chr14:69728600-69729600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
13	chr14:69728600-69729600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:69728600-69729600	Enhancers	Brain Angular Gyrus	brain
15	chr14:69728600-69730400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:69728600-69730600	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr14:69728600-69730800	Enhancers	Right Atrium	heart
18	chr14:69728800-69729600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
19	chr14:69728800-69730600	Enhancers	Fetal Brain Male	brain
20	chr14:69728800-69730800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:69728800-69731000	Enhancers	Adipose Nuclei	Adipose
22	chr14:69728800-69731200	Enhancers	NHLF	lung
23	chr14:69729000-69729600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:69729000-69730600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
25	chr14:69729000-69730800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:69729000-69731200	Enhancers	Osteobl	bone
27	chr14:69729000-69737600	Weak transcription	Spleen	Spleen
28	chr14:69729200-69729600	Enhancers	Brain Hippocampus Middle	brain
29	chr14:69729200-69729800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:69729200-69730200	Enhancers	Brain Anterior Caudate	brain
31	chr14:69729200-69730200	Weak transcription	Left Ventricle	heart
32	chr14:69729200-69730200	Weak transcription	Right Ventricle	heart
33	chr14:69729200-69730400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:69729200-69731600	Enhancers	Fetal Intestine Small	intestine
35	chr14:69729200-69734400	Weak transcription	Fetal Heart	heart
36	chr14:69729200-69737600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr14:69729400-69729600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr14:69729400-69729600	Bivalent Enhancer	Stomach Mucosa	stomach
39	chr14:69729400-69729600	Bivalent Enhancer	HMEC	breast
40	chr14:69729400-69730400	Enhancers	NHDF-Ad	bronchial
41	chr14:69729400-69730600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr14:69729400-69730600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr14:69729400-69736000	Enhancers	Fetal Intestine Large	intestine
44	chr14:69729400-69737800	Weak transcription	Fetal Brain Female	brain

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