Variant report

Variant	esv3332322
Chromosome Location	chr14:105014082-105016380
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105016071..105018557-chr14:105018817..105021096,3	K562	blood:
2	chr14:105013872..105015383-chr14:105019169..105021029,2	K562	blood:
3	chr14:105006694..105010475-chr14:105012280..105015827,3	MCF-7	breast:

Extended variants
information (count: 96 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146724104	chr14:105014083-105014084	Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34554982	chr14:105014123-105014124	Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139252616	chr14:105014145-105014146	Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555352417	chr14:105014146-105014147	Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34686607	chr14:105014210-105014211	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs540915800	chr14:105014211-105014212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375114164	chr14:105014230-105014231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35519712	chr14:105014264-105014265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564438156	chr14:105014279-105014280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184124266	chr14:105014311-105014312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs60872733	chr14:105014349-105014350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189886705	chr14:105014350-105014351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34793922	chr14:105014357-105014358	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs529007899	chr14:105014364-105014365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144018354	chr14:105014389-105014390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559386943	chr14:105014415-105014416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528135575	chr14:105014417-105014418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372311647	chr14:105014437-105014438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113407556	chr14:105014447-105014448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571153115	chr14:105014455-105014456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114289890	chr14:105014495-105014496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550367996	chr14:105014515-105014516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570014028	chr14:105014516-105014517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535559253	chr14:105014615-105014616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555479487	chr14:105014617-105014618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34344768	chr14:105014626-105014627	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs534721759	chr14:105014645-105014646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557737932	chr14:105014649-105014650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146426417	chr14:105014717-105014718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543212633	chr14:105014718-105014719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563500014	chr14:105014726-105014727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181170836	chr14:105014860-105014861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201250914	chr14:105014878-105014879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9743695	chr14:105014881-105014882	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs28658432	chr14:105014965-105014966	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs112461551	chr14:105014970-105014971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs28434197	chr14:105014973-105014974	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs9743984	chr14:105014982-105014983	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs186056825	chr14:105015063-105015064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12896097	chr14:105015096-105015097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12894943	chr14:105015120-105015121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4983404	chr14:105015189-105015190	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs564592198	chr14:105015205-105015206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4983604	chr14:105015214-105015215	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs4983605	chr14:105015215-105015216	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs374640214	chr14:105015236-105015237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533241513	chr14:105015251-105015252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377736405	chr14:105015257-105015258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567563285	chr14:105015261-105015262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558625381	chr14:105015271-105015272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	20932292	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105008000-105016600	Enhancers	Fetal Brain Male	brain
2	chr14:105009800-105014600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:105012600-105014800	Weak transcription	Spleen	Spleen
4	chr14:105012600-105015400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:105012600-105016000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:105012800-105014400	Enhancers	Fetal Brain Female	brain
7	chr14:105013000-105016400	Enhancers	Brain Germinal Matrix	brain
8	chr14:105014000-105014200	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:105014400-105015400	Weak transcription	Fetal Brain Female	brain
10	chr14:105014600-105014800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:105014800-105015000	Enhancers	Spleen	Spleen
12	chr14:105014800-105015200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:105015000-105015600	Weak transcription	Spleen	Spleen
14	chr14:105015200-105015600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:105015200-105016000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr14:105015400-105015800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
17	chr14:105015400-105015800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr14:105015400-105015800	Enhancers	Fetal Brain Female	brain
19	chr14:105015400-105016000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:105015400-105016000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr14:105015400-105016200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:105015400-105016200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr14:105015600-105015800	Enhancers	Spleen	Spleen
24	chr14:105015600-105016400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr14:105015800-105016200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr14:105015800-105020600	Weak transcription	Fetal Brain Female	brain
27	chr14:105016000-105018200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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