Variant report

Variant	nsv1045558
Chromosome Location	chr14:80308181-80344592
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:80308439..80310952-chr14:80331658..80333926,2	K562	blood:
2	chr14:80314394..80315306-chr21:46610859..46611401,2	MCF-7	breast:
3	chr14:80308439..80310952-chr14:80331658..80333926,2	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	NRXN3	hsa-miR-92a-3p	chr14:80330245-80330269
2	NRXN3	hsa-miR-374b-5p	chr14:80320379-80320400

Extended variants
information (count: 797 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:797 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551629623	chr14:80308207-80308208	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs80332518	chr14:80308209-80308210	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs376219584	chr14:80308235-80308236	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs550423783	chr14:80308336-80308337	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs556920806	chr14:80308344-80308345	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs567246780	chr14:80308350-80308351	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs529830254	chr14:80308418-80308419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546810038	chr14:80308475-80308476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566437833	chr14:80308476-80308477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577778908	chr14:80308479-80308480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370902451	chr14:80308550-80308551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538773449	chr14:80308552-80308553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570124896	chr14:80308575-80308576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568831891	chr14:80308652-80308653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11845443	chr14:80308688-80308689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374008991	chr14:80308699-80308700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181825069	chr14:80308712-80308713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542843115	chr14:80308713-80308714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74446619	chr14:80308726-80308727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573357397	chr14:80308736-80308737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs60982908	chr14:80308757-80308758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545440828	chr14:80308785-80308786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148142479	chr14:80308788-80308789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531134540	chr14:80308842-80308843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530783052	chr14:80308897-80308898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544229376	chr14:80308931-80308932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560837077	chr14:80308932-80308933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186394216	chr14:80308941-80308942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144575188	chr14:80309005-80309006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141973499	chr14:80309107-80309108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370265426	chr14:80309143-80309144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191157840	chr14:80309215-80309216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532218074	chr14:80309379-80309380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77497233	chr14:80311803-80311804	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs531768669	chr14:80311871-80311872	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs376548978	chr14:80311893-80311894	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs184422240	chr14:80311894-80311895	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs112448242	chr14:80311932-80311933	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs61990772	chr14:80311943-80311944	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs61990773	chr14:80311947-80311948	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs567891902	chr14:80311948-80311949	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs568537368	chr14:80311950-80311951	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs189201647	chr14:80311960-80311961	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs149717033	chr14:80311965-80311966	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs570822582	chr14:80312014-80312015	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs192816422	chr14:80312019-80312020	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs539860805	chr14:80312035-80312036	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs184846521	chr14:80312067-80312068	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs374949528	chr14:80312085-80312086	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs112315737	chr14:80312091-80312092	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	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
Malignant fibrous histiocytomas	21085701	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80303200-80308400	Weak transcription	NH-A	brain
2	chr14:80303400-80308200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:80303400-80308400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:80303400-80308400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr14:80303400-80308400	Weak transcription	Osteobl	bone
6	chr14:80306800-80308400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:80307000-80308400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr14:80307200-80308600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:80307600-80309000	Enhancers	Brain Substantia Nigra	brain
10	chr14:80307800-80308200	Enhancers	Fetal Kidney	kidney
11	chr14:80307800-80308600	Enhancers	Right Atrium	heart
12	chr14:80307800-80308800	Enhancers	Pancreas	Pancrea
13	chr14:80308000-80308400	Flanking Active TSS	Liver	Liver
14	chr14:80308000-80308400	Enhancers	Brain Hippocampus Middle	brain
15	chr14:80308000-80308600	Enhancers	Colon Smooth Muscle	Colon
16	chr14:80308000-80309400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:80308200-80308800	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr14:80308200-80308800	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr14:80308200-80308800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr14:80308400-80308600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:80308400-80308800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:80308400-80308800	Enhancers	Aorta	Aorta
23	chr14:80308400-80308800	Enhancers	Liver	Liver
24	chr14:80308400-80308800	Enhancers	NH-A	brain
25	chr14:80308400-80308800	Enhancers	NHDF-Ad	bronchial
26	chr14:80308400-80308800	Enhancers	Osteobl	bone
27	chr14:80308400-80309200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr14:80308400-80309400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:80308600-80309200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:80309200-80309400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr14:80311800-80312400	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr14:80312000-80312400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:80313400-80314200	Enhancers	H9 Cell Line	embryonic stem cell
34	chr14:80313400-80314200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr14:80313600-80314200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr14:80313600-80314200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr14:80314200-80319400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr14:80314200-80319600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr14:80318000-80319600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr14:80318400-80318600	Bivalent Enhancer	Fetal Brain Male	brain
41	chr14:80318600-80318800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr14:80318600-80320000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr14:80318800-80321000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr14:80319000-80319600	Enhancers	H1 Cell Line	embryonic stem cell
45	chr14:80319400-80320000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:80319400-80320000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr14:80319400-80320000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr14:80319400-80320000	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr14:80319600-80320000	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr14:80321000-80321200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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