Variant report

Variant	nsv1054166
Chromosome Location	chr14:84299761-84338200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:84305420..84308089-chr14:84313303..84315570,2	MCF-7	breast:
2	chr14:84292171..84294967-chr14:84304477..84306889,2	MCF-7	breast:
3	chr14:84309371..84311362-chr14:84312416..84313933,2	MCF-7	breast:
4	chr14:84305420..84308089-chr14:84313303..84315570,2	MCF-7	breast:
5	chr14:84309371..84311362-chr14:84312416..84313933,2	MCF-7	breast:

Extended variants
information (count: 1326 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1326 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551841843	chr14:84299781-84299782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570243572	chr14:84299784-84299785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28715582	chr14:84299814-84299815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143180214	chr14:84299820-84299821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113336350	chr14:84299861-84299862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546742764	chr14:84299899-84299900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112885290	chr14:84299922-84299923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141780609	chr14:84299931-84299932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550868493	chr14:84299969-84299970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535694886	chr14:84299976-84299977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557021330	chr14:84300051-84300052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376481182	chr14:84300052-84300053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537470119	chr14:84300084-84300085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190165377	chr14:84300104-84300105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569028342	chr14:84300107-84300108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559012946	chr14:84300126-84300127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147058131	chr14:84300187-84300188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541546896	chr14:84300190-84300191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138430032	chr14:84300218-84300219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574331282	chr14:84300234-84300235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541770776	chr14:84300301-84300302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536071219	chr14:84300311-84300312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143829501	chr14:84300335-84300336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143238362	chr14:84300350-84300351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148049297	chr14:84300354-84300355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563758480	chr14:84300365-84300366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528136972	chr14:84300366-84300367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34773931	chr14:84300403-84300404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546381195	chr14:84300420-84300421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568243976	chr14:84300456-84300457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183184600	chr14:84300466-84300467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376465481	chr14:84300480-84300481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370945703	chr14:84300497-84300498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569143812	chr14:84300507-84300508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539759942	chr14:84300535-84300536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541105755	chr14:84300637-84300638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558952043	chr14:84300682-84300683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577310439	chr14:84300697-84300698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371596737	chr14:84300743-84300744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535116662	chr14:84300774-84300775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553229992	chr14:84300780-84300781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1698242	chr14:84300824-84300825	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs542087737	chr14:84300838-84300839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553148267	chr14:84300845-84300846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575501493	chr14:84300849-84300850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188565839	chr14:84300850-84300851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141793622	chr14:84300902-84300903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545037732	chr14:84300911-84300912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193098835	chr14:84300953-84300954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557654110	chr14:84301001-84301002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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	17603634	CNVD
Glioblastoma	21080181	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:84295000-84307600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:84295400-84303800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr14:84303000-84304000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr14:84303400-84303800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr14:84303400-84304800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr14:84303400-84305000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr14:84303600-84304800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr14:84303800-84304000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr14:84303800-84307800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr14:84304000-84307400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr14:84304000-84308000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr14:84304800-84307600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr14:84305000-84308000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr14:84307400-84308200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr14:84307600-84307800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr14:84307600-84308600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr14:84307800-84308200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr14:84307800-84308800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr14:84308000-84308400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr14:84308000-84308800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr14:84308200-84309000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr14:84308200-84309000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:84308400-84309000	Enhancers	H9 Cell Line	embryonic stem cell
24	chr14:84308800-84309200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:84308800-84309200	Enhancers	Brain Germinal Matrix	brain
26	chr14:84308800-84309200	Enhancers	Fetal Brain Female	brain
27	chr14:84309000-84309200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:84309400-84313800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:84309600-84315200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr14:84313200-84314200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:84313800-84314200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:84315800-84316400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:84315800-84316600	Enhancers	Fetal Brain Female	brain
34	chr14:84315800-84317200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr14:84316400-84316800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr14:84316400-84316800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr14:84316400-84317000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr14:84320400-84320800	Enhancers	Hela-S3	cervix
39	chr14:84320800-84321800	Weak transcription	Hela-S3	cervix
40	chr14:84321800-84324000	Enhancers	Hela-S3	cervix
41	chr14:84322000-84323000	Enhancers	Fetal Kidney	kidney
42	chr14:84323600-84323800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr14:84323800-84329400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr14:84324000-84325000	Weak transcription	Hela-S3	cervix
45	chr14:84325000-84325600	Enhancers	Hela-S3	cervix
46	chr14:84325600-84327000	Weak transcription	Hela-S3	cervix
47	chr14:84327000-84327400	Flanking Active TSS	Hela-S3	cervix
48	chr14:84327400-84328400	Enhancers	Hela-S3	cervix
49	chr14:84329200-84329600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr14:84329200-84329600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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