Variant report

Variant	nsv565301
Chromosome Location	chr14:82475996-82502369
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	chr14:82475629..82476129-chr17:56716796..56717701,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSHR-4	chr14:82496450-82496693	ENSG00000259035

Extended variants
information (count: 126 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1430481	chr14:82475996-82475997	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188751577	chr14:82476019-82476020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181163592	chr14:82476024-82476025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531688905	chr14:82476041-82476042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549902779	chr14:82476096-82476097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186802414	chr14:82476151-82476152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74884729	chr14:82476184-82476185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373918764	chr14:82476200-82476201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566671308	chr14:82476250-82476251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533743863	chr14:82476285-82476286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191650241	chr14:82476339-82476340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10141329	chr14:82476345-82476346	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs10141147	chr14:82476356-82476357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141839995	chr14:82476369-82476370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563687313	chr14:82476373-82476374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181718966	chr14:82476402-82476403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146196382	chr14:82476406-82476407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186429905	chr14:82476423-82476424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531668187	chr14:82476428-82476429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371641700	chr14:82476454-82476455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572651583	chr14:82476495-82476496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368128674	chr14:82476513-82476514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554533450	chr14:82476522-82476523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114629801	chr14:82476549-82476550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543489378	chr14:82476567-82476568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370944129	chr14:82476701-82476702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533116177	chr14:82476702-82476703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374299321	chr14:82476755-82476756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190835579	chr14:82476770-82476771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549544466	chr14:82476794-82476795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560350729	chr14:82476802-82476803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115396922	chr14:82476825-82476826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77839813	chr14:82476839-82476840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111932999	chr14:82476845-82476846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531352141	chr14:82476861-82476862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549130247	chr14:82476893-82476894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549865741	chr14:82476947-82476948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571372907	chr14:82476969-82476970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539175844	chr14:82476981-82476982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530125090	chr14:82477025-82477026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186562376	chr14:82477035-82477036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs79240161	chr14:82477062-82477063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548235716	chr14:82477098-82477099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2115973	chr14:82477103-82477104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576000267	chr14:82477124-82477125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373940480	chr14:82477153-82477154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543428109	chr14:82477170-82477171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558588412	chr14:82477215-82477216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144955559	chr14:82477216-82477217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191222258	chr14:82477217-82477218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	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
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:82475400-82476200	Enhancers	Fetal Intestine Small	intestine
2	chr14:82475400-82477400	Enhancers	Liver	Liver
3	chr14:82475600-82476200	Enhancers	Duodenum Mucosa	Duodenum
4	chr14:82475600-82477800	Enhancers	Fetal Intestine Large	intestine
5	chr14:82475800-82478000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:82476200-82476600	Weak transcription	Fetal Intestine Small	intestine
7	chr14:82476200-82477200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr14:82476600-82477800	Enhancers	Fetal Intestine Small	intestine
9	chr14:82477200-82477600	Enhancers	Duodenum Mucosa	Duodenum
10	chr14:82477400-82478000	Enhancers	Colonic Mucosa	Colon
11	chr14:82478000-82478200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:82478000-82478400	Weak transcription	Colonic Mucosa	Colon
13	chr14:82478200-82478600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:82478600-82478800	Enhancers	Colonic Mucosa	Colon
15	chr14:82496600-82496800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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