Variant report

Variant	esv3425621
Chromosome Location	chr14:42986352-42994050
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 277 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:277 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557637837	chr14:42986361-42986362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186107107	chr14:42986382-42986383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149520030	chr14:42986424-42986425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536785272	chr14:42986437-42986438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564696928	chr14:42986446-42986447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147187458	chr14:42986489-42986490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535661003	chr14:42986497-42986498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544098005	chr14:42986498-42986499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140478082	chr14:42986509-42986510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115356203	chr14:42986510-42986511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs56089214	chr14:42986518-42986519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs144525224	chr14:42986533-42986534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546420399	chr14:42986549-42986550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1499385	chr14:42986577-42986578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs552313364	chr14:42986613-42986614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571051144	chr14:42986617-42986618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538467047	chr14:42986665-42986666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77703233	chr14:42986670-42986671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190725593	chr14:42986671-42986672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12893854	chr14:42986717-42986718	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs554088330	chr14:42986722-42986723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375659060	chr14:42986728-42986729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576801383	chr14:42986756-42986757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147418379	chr14:42986769-42986770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73326751	chr14:42986792-42986793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181878090	chr14:42986802-42986803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs59407914	chr14:42986864-42986865	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs544037217	chr14:42986939-42986940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545480196	chr14:42986993-42986994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562359567	chr14:42987013-42987014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574649665	chr14:42987018-42987019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs931687	chr14:42987086-42987087	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs139501172	chr14:42987088-42987089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74049212	chr14:42987133-42987134	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs116334167	chr14:42987154-42987155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528155270	chr14:42987280-42987281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564200897	chr14:42987320-42987321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531445621	chr14:42987348-42987349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142504418	chr14:42987448-42987449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376737795	chr14:42987450-42987451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550352622	chr14:42987461-42987462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568583235	chr14:42987476-42987477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536113401	chr14:42987481-42987482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547810871	chr14:42987491-42987492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542052260	chr14:42987524-42987525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114160160	chr14:42987565-42987566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185744426	chr14:42987618-42987619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576085720	chr14:42987639-42987640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537149508	chr14:42987691-42987692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140765486	chr14:42987698-42987699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	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
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Glioblastoma multiforme	21569311	CNVD
Schizophrenia	20967226	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42983400-42987200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:42984200-42987800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:42987200-42987600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:42987200-42987600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr14:42987200-42987800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:42987600-42992800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:42987800-42988000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr14:42988000-42991400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:42992200-42994800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:42992800-42993200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr14:42992800-42993200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:42992800-42993200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr14:42992800-42993200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:42992800-42993200	Enhancers	Brain Anterior Caudate	brain
15	chr14:42992800-42993400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr14:42992800-42993600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:42993000-42993200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr14:42993000-42993200	Enhancers	Brain Substantia Nigra	brain
19	chr14:42993000-42993200	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr14:42993000-42993200	Enhancers	Fetal Lung	lung
21	chr14:42993000-42993600	Enhancers	Fetal Brain Female	brain
22	chr14:42993200-42996600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr14:42993600-42994000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:42994000-42994600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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