Variant report

Variant	esv3384366
Chromosome Location	chr14:105051957-105052129
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105051680..105054326-chr14:105056453..105058154,2	K562	blood:
2	chr14:105048877..105053029-chr14:105053228..105056172,3	MCF-7	breast:
3	chr14:105051460..105054318-chr14:105065676..105068171,2	MCF-7	breast:
4	chr14:104610504..104612427-chr14:105051437..105054279,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529909456	chr14:105051991-105051992	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs201309334	chr14:105052019-105052020	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs199636849	chr14:105052020-105052021	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs200466883	chr14:105052021-105052022	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs71421872	chr14:105052022-105052023	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs570605715	chr14:105052023-105052024	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs73361812	chr14:105052029-105052030	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs566290843	chr14:105052039-105052040	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs11845247	chr14:105052044-105052045	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs201446200	chr14:105052047-105052048	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs376258081	chr14:105052056-105052057	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs386781059	chr14:105052063-105052064	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs386781060	chr14:105052065-105052066	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs10132851	chr14:105052067-105052068	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs201302644	chr14:105052072-105052073	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs138120292	chr14:105052073-105052074	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs371571033	chr14:105052076-105052077	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs111903881	chr14:105052077-105052078	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs112582775	chr14:105052087-105052088	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs111537217	chr14:105052093-105052094	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs552134527	chr14:105052123-105052124	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20932292	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105044800-105053600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr14:105045600-105053200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:105046400-105064000	Weak transcription	Brain Anterior Caudate	brain
4	chr14:105048000-105052000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:105048000-105053400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr14:105048200-105053600	Weak transcription	Brain Angular Gyrus	brain
7	chr14:105049200-105054800	Enhancers	Fetal Muscle Leg	muscle
8	chr14:105049200-105057400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr14:105049200-105057400	Bivalent Enhancer	Placenta	Placenta
10	chr14:105049600-105054200	Enhancers	Left Ventricle	heart
11	chr14:105049800-105052400	Enhancers	Right Atrium	heart
12	chr14:105050000-105053800	Weak transcription	Gastric	stomach
13	chr14:105050200-105054800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr14:105050400-105054200	Enhancers	Adipose Nuclei	Adipose
15	chr14:105050400-105055000	Enhancers	Fetal Heart	heart
16	chr14:105050600-105053200	Weak transcription	Spleen	Spleen
17	chr14:105051000-105052800	Weak transcription	Fetal Intestine Large	intestine
18	chr14:105051000-105053200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:105051000-105054000	Enhancers	Right Ventricle	heart
20	chr14:105051200-105053200	Weak transcription	Fetal Brain Male	brain
21	chr14:105051200-105053200	Weak transcription	Fetal Intestine Small	intestine
22	chr14:105051600-105052600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr14:105051800-105052200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
24	chr14:105052000-105053200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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