Variant report

Variant	nsv974291
Chromosome Location	chr14:84447572-84460362
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	chr14:84454343..84456288-chr14:84459198..84460996,2	K562	blood:
2	chr14:84454343..84456288-chr14:84459198..84460996,2	K562	blood:

Extended variants
information (count: 249 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:249 , 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	rs140271958	chr14:84447582-84447583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534228786	chr14:84447585-84447586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76857225	chr14:84447590-84447591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570820157	chr14:84447618-84447619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76220096	chr14:84447664-84447665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143503768	chr14:84447730-84447731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537887980	chr14:84447731-84447732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147503223	chr14:84447739-84447740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575219092	chr14:84447744-84447745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545919102	chr14:84447802-84447803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564508173	chr14:84447852-84447853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528535750	chr14:84447853-84447854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576573103	chr14:84447883-84447884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112435905	chr14:84447905-84447906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562235437	chr14:84447930-84447931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529537372	chr14:84447931-84447932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551277396	chr14:84447946-84447947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569610041	chr14:84447949-84447950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532952085	chr14:84447954-84447955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551045034	chr14:84447988-84447989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566474888	chr14:84447999-84448000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376107178	chr14:84448208-84448209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147501891	chr14:84448271-84448272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140098940	chr14:84448285-84448286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563074987	chr14:84448296-84448297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145406053	chr14:84448313-84448314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148715850	chr14:84448326-84448327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372575381	chr14:84448341-84448342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200798980	chr14:84448362-84448363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559868794	chr14:84448366-84448367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112530013	chr14:84448369-84448370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs80353582	chr14:84448373-84448374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548652948	chr14:84448379-84448380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142293990	chr14:84448399-84448400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537648066	chr14:84448411-84448412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs531543808	chr14:84448431-84448432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs151005210	chr14:84448433-84448434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs571123262	chr14:84448438-84448439	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs538528198	chr14:84448466-84448467	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs554062041	chr14:84448486-84448487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs573137080	chr14:84448552-84448553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs12436525	chr14:84448559-84448560	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs72699265	chr14:84448570-84448571	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs189953353	chr14:84453026-84453027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574484449	chr14:84453035-84453036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541869285	chr14:84453057-84453058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563704108	chr14:84453063-84453064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575612656	chr14:84453144-84453145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369896245	chr14:84453155-84453156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569888253	chr14:84453170-84453171	Enhancers	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
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

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:84442200-84448000	Weak transcription	Stomach Mucosa	stomach
2	chr14:84448200-84448400	Enhancers	Stomach Mucosa	stomach
3	chr14:84448400-84448600	ZNF genes & repeats	Fetal Heart	heart
4	chr14:84453000-84453400	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr14:84453000-84455600	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr14:84453400-84454600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr14:84454400-84455000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr14:84454600-84455200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:84454600-84455200	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr14:84457600-84460000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:84458400-84458600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:84458600-84462200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:84458800-84461200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:84459000-84460000	Enhancers	NHLF	lung

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