Variant report

Variant	esv3512735
Chromosome Location	chr14:78248572-78253007
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 162 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543114988	chr14:78248576-78248577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192708096	chr14:78248579-78248580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs199815071	chr14:78248647-78248648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs56374008	chr14:78248663-78248664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573508096	chr14:78248687-78248688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542639065	chr14:78248690-78248691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35085211	chr14:78248744-78248745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559429801	chr14:78248751-78248752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572764503	chr14:78248799-78248800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528378355	chr14:78248810-78248811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539803313	chr14:78248812-78248813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183549074	chr14:78248826-78248827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs72687250	chr14:78248875-78248876	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs72687251	chr14:78248908-78248909	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs576130197	chr14:78248931-78248932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2112136	chr14:78248952-78248953	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs563800246	chr14:78248969-78248970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10132263	chr14:78248976-78248977	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs541606768	chr14:78249121-78249122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187842402	chr14:78249124-78249125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192280269	chr14:78249136-78249137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534957455	chr14:78249240-78249241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551671621	chr14:78249280-78249281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556559368	chr14:78249287-78249288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116175328	chr14:78249292-78249293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557315637	chr14:78249304-78249305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573668202	chr14:78249412-78249413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148523809	chr14:78249418-78249419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201247538	chr14:78249434-78249435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368832107	chr14:78249435-78249436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114963769	chr14:78249436-78249437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79625378	chr14:78249437-78249438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79305373	chr14:78249438-78249439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552978942	chr14:78249447-78249448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529033666	chr14:78249458-78249459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4641655	chr14:78249475-78249476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs375912348	chr14:78249505-78249506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78823490	chr14:78249524-78249525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142858202	chr14:78249660-78249661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575495953	chr14:78249673-78249674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544386626	chr14:78249697-78249698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184611716	chr14:78249753-78249754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529327790	chr14:78249755-78249756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199942815	chr14:78249773-78249774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28515143	chr14:78249774-78249775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528467383	chr14:78249775-78249776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34534085	chr14:78249776-78249777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74662008	chr14:78249777-78249778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs36001507	chr14:78249795-78249796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4635269	chr14:78249870-78249871	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:74)

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
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
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Hepatocellular carcinoma	16750200	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Biliary cancer	19435499	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intracranial aneurysm	16715129	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22209245	CNVD
Prostate cancer	22553170	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78247600-78249400	Enhancers	GM12878-XiMat	blood
2	chr14:78248200-78248800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr14:78248600-78249000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:78248800-78249000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:78248800-78252000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:78251800-78252800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:78251800-78253000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:78251800-78253000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr14:78252000-78252800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr14:78252000-78252800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:78252000-78253000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr14:78252000-78253000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr14:78252000-78253600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr14:78252000-78253600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:78252400-78252800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr14:78252400-78253200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr14:78252800-78253200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:78252800-78253800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:78252800-78255400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr14:78252800-78256800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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