Variant report

Variant	nsv521160
Chromosome Location	chr14:79963569-79971835
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:79962362..79964375-chr14:79965844..79968447,2	K562	blood:
2	chr14:79962362..79964375-chr14:79965844..79968447,2	K562	blood:

Extended variants
information (count: 322 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11850956	chr14:79963569-79963570	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs116296216	chr14:79963580-79963581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370313448	chr14:79963604-79963605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112047970	chr14:79963605-79963606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533609276	chr14:79963626-79963627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568203305	chr14:79963636-79963637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74070239	chr14:79963659-79963660	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs558718847	chr14:79963663-79963664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148194451	chr14:79963664-79963665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570832431	chr14:79963767-79963768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184036464	chr14:79963780-79963781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10148756	chr14:79963784-79963785	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs568958037	chr14:79963794-79963795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112474925	chr14:79963812-79963813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188890285	chr14:79963822-79963823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191216974	chr14:79963825-79963826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540717130	chr14:79963850-79963851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78056476	chr14:79963853-79963854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541137545	chr14:79963894-79963895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183668069	chr14:79963942-79963943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113479831	chr14:79963969-79963970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76193345	chr14:79963981-79963982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538028959	chr14:79963991-79963992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372952710	chr14:79963998-79963999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188430461	chr14:79964118-79964119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148435258	chr14:79964161-79964162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191690043	chr14:79964194-79964195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138473279	chr14:79964195-79964196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527736728	chr14:79964204-79964205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543030340	chr14:79964223-79964224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144024797	chr14:79964236-79964237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150689134	chr14:79964249-79964250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138926694	chr14:79964287-79964288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149436874	chr14:79964325-79964326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185001935	chr14:79964326-79964327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535771464	chr14:79964360-79964361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562719215	chr14:79964379-79964380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555567375	chr14:79964399-79964400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561093696	chr14:79964403-79964404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376528354	chr14:79964407-79964408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557833521	chr14:79964408-79964409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17109299	chr14:79964423-79964424	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs144654948	chr14:79964454-79964455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562976165	chr14:79964456-79964457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139528706	chr14:79964497-79964498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542124841	chr14:79964502-79964503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs17763916	chr14:79964505-79964506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527881474	chr14:79964516-79964517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547714654	chr14:79964532-79964533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187272880	chr14:79964556-79964557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79962200-79963800	Enhancers	HSMM	muscle
2	chr14:79962400-79963800	Enhancers	HSMMtube	muscle
3	chr14:79962800-79963600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr14:79962800-79963800	Enhancers	Brain Germinal Matrix	brain
5	chr14:79963800-79966800	Weak transcription	Brain Germinal Matrix	brain
6	chr14:79964200-79964800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:79965800-79966000	Enhancers	Stomach Smooth Muscle	stomach
8	chr14:79966000-79966400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:79966000-79976400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr14:79966400-79966800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:79966800-79967000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:79966800-79967600	Enhancers	Brain Germinal Matrix	brain
13	chr14:79967000-79967800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:79967600-79968800	Weak transcription	Brain Germinal Matrix	brain
15	chr14:79967800-79968000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:79967800-79969400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr14:79968000-79968400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:79968200-79968400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr14:79968200-79968400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr14:79968400-79968600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr14:79968400-79968800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:79968400-79969200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr14:79968400-79969200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr14:79968400-79969200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr14:79968400-79969200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:79968400-79969200	Enhancers	Fetal Lung	lung
27	chr14:79968400-79969400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr14:79968400-79969400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr14:79968600-79968800	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr14:79968600-79969400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr14:79968800-79969000	Enhancers	Brain Germinal Matrix	brain
32	chr14:79968800-79969200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr14:79969000-79969200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr14:79969000-79969400	Enhancers	H1 Cell Line	embryonic stem cell
35	chr14:79969000-79971200	Weak transcription	Brain Germinal Matrix	brain

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