Variant report

Variant	nsv819274
Chromosome Location	chr14:72806021-72810798
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	chr14:72806003..72809528-chr14:72813549..72815955,3	MCF-7	breast:

Extended variants
information (count: 219 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:219 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2529474	chr14:72806078-72806079	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs57360450	chr14:72806089-72806090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs376116074	chr14:72806093-72806094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2681771	chr14:72806117-72806118	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs563925107	chr14:72806160-72806161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190318828	chr14:72806170-72806171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114022092	chr14:72806249-72806250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2239243	chr14:72806264-72806265	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs571888048	chr14:72806282-72806283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113096915	chr14:72806284-72806285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113242291	chr14:72806408-72806409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370860053	chr14:72806416-72806417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535096382	chr14:72806471-72806472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113956878	chr14:72806473-72806474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2239242	chr14:72806515-72806516	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs571412725	chr14:72806557-72806558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538505708	chr14:72806560-72806561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78289314	chr14:72806664-72806665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575157677	chr14:72806676-72806677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564320380	chr14:72806687-72806688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74951244	chr14:72806750-72806751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554118877	chr14:72806773-72806774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11850083	chr14:72806780-72806781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116414363	chr14:72806784-72806785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576216190	chr14:72806786-72806787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540312023	chr14:72806793-72806794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200077447	chr14:72806830-72806831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116267470	chr14:72806865-72806866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576874421	chr14:72806887-72806888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545231151	chr14:72806893-72806894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181409291	chr14:72806900-72806901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186282083	chr14:72806922-72806923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140644767	chr14:72806927-72806928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561525091	chr14:72806928-72806929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190697427	chr14:72806941-72806942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561252605	chr14:72806961-72806962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528937271	chr14:72806971-72806972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547070293	chr14:72806975-72806976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547500102	chr14:72807041-72807042	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2239241	chr14:72807042-72807043	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs182353109	chr14:72807074-72807075	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186045866	chr14:72807126-72807127	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568737230	chr14:72807131-72807132	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536123646	chr14:72807149-72807150	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2681770	chr14:72807174-72807175	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs2529473	chr14:72807182-72807183	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533507404	chr14:72807213-72807214	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558532605	chr14:72807217-72807218	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191317573	chr14:72807235-72807236	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570242278	chr14:72807256-72807257	Strong transcription 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
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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72801000-72807400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:72804400-72808000	Weak transcription	Spleen	Spleen
3	chr14:72804800-72807000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr14:72807000-72809200	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr14:72807400-72808800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:72808000-72808400	Enhancers	Ovary	ovary
7	chr14:72808000-72809800	Enhancers	Spleen	Spleen
8	chr14:72808200-72809000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr14:72808800-72809000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:72809000-72809600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr14:72809200-72810200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
12	chr14:72809600-72810400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:72809800-72810400	Weak transcription	Spleen	Spleen
14	chr14:72810200-72814800	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr14:72810400-72812600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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