Variant report

Variant	esv3371539
Chromosome Location	chr14:81707699-81708747
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	chr14:81683519..81693455-chr14:81706363..81723125,33	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165417	chromatin interactions

Extended variants
information (count: 44 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528526579	chr14:81707700-81707701	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs75645604	chr14:81707753-81707754	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs78891911	chr14:81707759-81707760	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs189989066	chr14:81707824-81707825	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs551209780	chr14:81707990-81707991	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs28890880	chr14:81708031-81708032	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs558545892	chr14:81708033-81708034	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs565628136	chr14:81708040-81708041	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs28852111	chr14:81708041-81708042	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs35597766	chr14:81708042-81708043	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs71430719	chr14:81708058-81708059	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs200138984	chr14:81708059-81708060	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs12434416	chr14:81708060-81708061	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs78603614	chr14:81708061-81708062	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs201060791	chr14:81708078-81708079	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs74662649	chr14:81708079-81708080	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs57647906	chr14:81708094-81708095	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs111793462	chr14:81708096-81708097	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs35014416	chr14:81708098-81708099	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs527924618	chr14:81708113-81708114	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs34014901	chr14:81708115-81708116	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs200520893	chr14:81708117-81708118	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs71107111	chr14:81708132-81708133	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs61159018	chr14:81708161-81708162	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs534662527	chr14:81708262-81708263	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs147267180	chr14:81708267-81708268	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs574713189	chr14:81708268-81708269	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs368754304	chr14:81708297-81708298	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs541590491	chr14:81708298-81708299	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs181024072	chr14:81708311-81708312	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs575288763	chr14:81708347-81708348	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs370496296	chr14:81708353-81708354	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs545903847	chr14:81708376-81708377	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs201274983	chr14:81708381-81708382	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs564286880	chr14:81708398-81708399	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs542071997	chr14:81708419-81708420	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs528453092	chr14:81708482-81708483	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs562604087	chr14:81708488-81708489	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs185445022	chr14:81708540-81708541	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs562206471	chr14:81708646-81708647	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs55822231	chr14:81708677-81708678	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs551148032	chr14:81708689-81708690	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs527845525	chr14:81708693-81708694	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs563081312	chr14:81708737-81708738	Inactive region	Chromatin interactive region	1 gene(s)	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
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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