Variant report

Variant	nsv817644
Chromosome Location	chr14:97523745-97537615
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 671 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs724210	chr14:97523745-97523746	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs561758747	chr14:97523794-97523795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557608532	chr14:97523872-97523873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569409469	chr14:97523879-97523880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536702408	chr14:97523883-97523884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555153268	chr14:97523889-97523890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573468136	chr14:97523921-97523922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187071623	chr14:97523922-97523923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553212889	chr14:97523923-97523924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192252335	chr14:97523949-97523950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547683033	chr14:97523967-97523968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs5810791	chr14:97523968-97523969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs397714918	chr14:97523976-97523977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546171674	chr14:97524007-97524008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144556062	chr14:97524022-97524023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75887376	chr14:97524027-97524028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543899657	chr14:97524051-97524052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562287887	chr14:97524053-97524054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529467200	chr14:97524070-97524071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539380702	chr14:97524082-97524083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547810727	chr14:97524117-97524118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76002641	chr14:97524140-97524141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148473637	chr14:97524144-97524145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141787329	chr14:97524170-97524171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374846401	chr14:97524177-97524178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs367723782	chr14:97524192-97524193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184586668	chr14:97524227-97524228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551479708	chr14:97524280-97524281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548640747	chr14:97524294-97524295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188756678	chr14:97524296-97524297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74079639	chr14:97524298-97524299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145925986	chr14:97524361-97524362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549814411	chr14:97524363-97524364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553035659	chr14:97524381-97524382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577869579	chr14:97524404-97524405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569724560	chr14:97524410-97524411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139807184	chr14:97524424-97524425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558196720	chr14:97524430-97524431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs193291606	chr14:97524538-97524539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114155380	chr14:97524559-97524560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574191700	chr14:97524590-97524591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143197392	chr14:97524593-97524594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537058857	chr14:97524614-97524615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559645441	chr14:97524617-97524618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116595787	chr14:97524646-97524647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551624741	chr14:97524652-97524653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146209547	chr14:97524664-97524665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73354250	chr14:97524668-97524669	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs548706144	chr14:97524684-97524685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139220843	chr14:97524689-97524690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	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
Basal cell lymphoma	17053054	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
Glioblastoma	21080181	CNVD
Cancer	20164920	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
Breast cancer	21509527	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	17426248	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97500800-97543600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:97522000-97525000	Enhancers	Fetal Brain Male	brain
3	chr14:97522800-97524400	Weak transcription	Fetal Brain Female	brain
4	chr14:97523400-97524400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:97523600-97524600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:97524400-97524600	Enhancers	Fetal Brain Female	brain
7	chr14:97524400-97525000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:97524600-97524800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:97527400-97527600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:97527800-97529000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:97528800-97530000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:97529000-97529400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:97529400-97532600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:97531400-97532200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:97531400-97532200	Enhancers	NHEK	skin
16	chr14:97531600-97532400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:97532600-97533000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:97533000-97538000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:97536000-97538000	Enhancers	Brain Germinal Matrix	brain
20	chr14:97536000-97538000	Enhancers	Fetal Brain Male	brain
21	chr14:97536200-97538000	Enhancers	Fetal Brain Female	brain
22	chr14:97537200-97538800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr14:97537400-97537800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:97537600-97538200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr14:97537600-97538200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr14:97537600-97538400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr14:97537600-97538400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr14:97537600-97538400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr14:97537600-97538600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:97537600-97538800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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