Variant report

Variant	esv3530583
Chromosome Location	chr14:38799515-38803754
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1168453	chr14:38799520-38799521	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573650601	chr14:38799596-38799597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190183762	chr14:38799626-38799627	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs548851174	chr14:38799653-38799654	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs555843462	chr14:38799711-38799712	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs1475516	chr14:38799740-38799741	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs1183883	chr14:38799796-38799797	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs61156259	chr14:38799806-38799807	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs182716684	chr14:38799817-38799818	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs1183884	chr14:38799819-38799820	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs187399233	chr14:38799829-38799830	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs529330582	chr14:38799879-38799880	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs549460613	chr14:38799883-38799884	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs569130306	chr14:38799973-38799974	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs28516790	chr14:38802015-38802016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs560071730	chr14:38802039-38802040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554297835	chr14:38802052-38802053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184441857	chr14:38802120-38802121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140689074	chr14:38802123-38802124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189671572	chr14:38802144-38802145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143034561	chr14:38802198-38802199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191817927	chr14:38802208-38802209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34116905	chr14:38802221-38802222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372308830	chr14:38802277-38802278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75560596	chr14:38802278-38802279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545068855	chr14:38802280-38802281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565052823	chr14:38802294-38802295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572238226	chr14:38802385-38802386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541390903	chr14:38802442-38802443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145830847	chr14:38802467-38802468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530381983	chr14:38802479-38802480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61023061	chr14:38802492-38802493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563847348	chr14:38802573-38802574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80066720	chr14:38802631-38802632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552840074	chr14:38802694-38802695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184501083	chr14:38802695-38802696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189257773	chr14:38802708-38802709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142909943	chr14:38802719-38802720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567973653	chr14:38802808-38802809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61178918	chr14:38802816-38802817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs74662806	chr14:38802836-38802837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114507659	chr14:38802861-38802862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181856752	chr14:38802912-38802913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558216353	chr14:38802966-38802967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552775044	chr14:38802987-38802988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572495640	chr14:38802988-38802989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541179073	chr14:38803035-38803036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116522796	chr14:38803036-38803037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2026084	chr14:38803046-38803047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574764900	chr14:38803199-38803200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38798600-38800000	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr14:38798800-38800000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:38799000-38800000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr14:38799200-38799800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr14:38799400-38799600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr14:38799600-38800000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr14:38802000-38803400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:38802600-38804400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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