Variant report

Variant	nsv431019
Chromosome Location	chr14:84303525-84365447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:84292171..84294967-chr14:84304477..84306889,2	MCF-7	breast:
2	chr14:84309371..84311362-chr14:84312416..84313933,2	MCF-7	breast:
3	chr14:84305420..84308089-chr14:84313303..84315570,2	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: 2204 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:2204 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1756290	chr14:84303525-84303526	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577717643	chr14:84303560-84303561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538736262	chr14:84303580-84303581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543339199	chr14:84303586-84303587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1705654	chr14:84303701-84303702	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs573486466	chr14:84303711-84303712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35050625	chr14:84303735-84303736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111417996	chr14:84303769-84303770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542838255	chr14:84303773-84303774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184861208	chr14:84303784-84303785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12879625	chr14:84303807-84303808	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs543313611	chr14:84303851-84303852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373191891	chr14:84303867-84303868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372530458	chr14:84303895-84303896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532094817	chr14:84303928-84303929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533191336	chr14:84303944-84303945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190139868	chr14:84303968-84303969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146244457	chr14:84303970-84303971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560663460	chr14:84303988-84303989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376280886	chr14:84303991-84303992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527804111	chr14:84304013-84304014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181999002	chr14:84304081-84304082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567774229	chr14:84304145-84304146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531996158	chr14:84304146-84304147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562143720	chr14:84304174-84304175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186541410	chr14:84304183-84304184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs137915110	chr14:84304197-84304198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189405436	chr14:84304204-84304205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72697182	chr14:84304261-84304262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181771308	chr14:84304262-84304263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114964598	chr14:84304286-84304287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185206028	chr14:84304307-84304308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548091350	chr14:84304317-84304318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554701455	chr14:84304349-84304350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141691653	chr14:84304400-84304401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543301249	chr14:84304401-84304402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558455044	chr14:84304419-84304420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577592946	chr14:84304436-84304437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545357173	chr14:84304464-84304465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560300983	chr14:84304481-84304482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150502343	chr14:84304649-84304650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542759212	chr14:84304675-84304676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566969496	chr14:84304676-84304677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562208589	chr14:84304695-84304696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141729143	chr14:84304696-84304697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201431699	chr14:84304724-84304725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561463490	chr14:84304770-84304771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139454416	chr14:84304819-84304820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550480275	chr14:84304850-84304851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572001918	chr14:84304898-84304899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioma	20126413	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

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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