Variant report

Variant	esv3371747
Chromosome Location	chr14:105020713-105021094
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105017921..105022172-chr14:105022189..105024897,5	MCF-7	breast:
2	chr14:105016071..105018557-chr14:105018817..105021096,3	K562	blood:
3	chr14:105013872..105015383-chr14:105019169..105021029,2	K562	blood:
4	chr14:104824690..104827500-chr14:105019187..105021176,2	MCF-7	breast:
5	chr14:105018505..105021042-chr14:105030444..105032502,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536414870	chr14:105020745-105020746	Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs201186411	chr14:105020746-105020747	Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs546489466	chr14:105020767-105020768	Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs566517220	chr14:105020784-105020785	Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs142595459	chr14:105020789-105020790	Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs185406044	chr14:105020810-105020811	Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs79663706	chr14:105020821-105020822	Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs73359830	chr14:105020845-105020846	Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs112502853	chr14:105020866-105020867	Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs574260047	chr14:105020869-105020870	Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs543158853	chr14:105020870-105020871	Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs373342839	chr14:105020873-105020874	Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs573424352	chr14:105020896-105020897	Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs78516433	chr14:105020898-105020899	Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs565407991	chr14:105020980-105020981	Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs148649636	chr14:105020989-105020990	Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs116709674	chr14:105020992-105020993	Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs561117830	chr14:105021033-105021034	Genic enhancers Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs189980788	chr14:105021046-105021047	Genic enhancers Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs529953227	chr14:105021051-105021052	Genic enhancers Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs373215501	chr14:105021057-105021058	Genic enhancers Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs546911796	chr14:105021087-105021088	Genic enhancers Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs566530033	chr14:105021091-105021092	Genic enhancers Weak transcription 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
Schizophrenia	23813976	CNVD
Breast cancer	20932292	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105019200-105026600	Enhancers	Fetal Brain Male	brain
2	chr14:105019400-105021000	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr14:105019600-105023000	Enhancers	Brain Germinal Matrix	brain
4	chr14:105019600-105023400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr14:105019800-105022200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:105020000-105022800	Enhancers	Fetal Lung	lung
7	chr14:105020400-105021200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:105020400-105021600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr14:105020400-105022800	Bivalent Enhancer	Fetal Stomach	stomach
10	chr14:105020600-105021000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:105020600-105021200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:105020600-105022400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr14:105020600-105022400	Enhancers	Fetal Brain Female	brain
14	chr14:105020800-105021000	Bivalent Enhancer	HSMMtube	muscle
15	chr14:105020800-105021200	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
16	chr14:105020800-105021200	Bivalent Enhancer	Placenta	Placenta
17	chr14:105021000-105021400	Enhancers	Brain Hippocampus Middle	brain
18	chr14:105021000-105021800	Enhancers	Fetal Intestine Small	intestine
19	chr14:105021000-105022600	Enhancers	Fetal Muscle Leg	muscle
20	chr14:105021000-105029600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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