Variant report

Variant	esv3530307
Chromosome Location	chr14:81538949-81539490
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563819954	chr14:81538985-81538986	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs79132769	chr14:81539021-81539022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549369575	chr14:81539036-81539037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138432286	chr14:81539038-81539039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191607609	chr14:81539039-81539040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140595391	chr14:81539068-81539069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547077441	chr14:81539083-81539084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374630205	chr14:81539096-81539097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117145746	chr14:81539113-81539114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536057138	chr14:81539116-81539117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548322941	chr14:81539117-81539118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569852075	chr14:81539134-81539135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372432209	chr14:81539148-81539149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs58856793	chr14:81539195-81539196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539035235	chr14:81539198-81539199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12887103	chr14:81539214-81539215	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs187636030	chr14:81539277-81539278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200420707	chr14:81539349-81539350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10134986	chr14:81539356-81539357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71430717	chr14:81539360-81539361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12888403	chr14:81539363-81539364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs58118536	chr14:81539364-81539365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs60115249	chr14:81539365-81539366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61627461	chr14:81539367-81539368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368021063	chr14:81539369-81539370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368493790	chr14:81539371-81539372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537322343	chr14:81539405-81539406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542969900	chr14:81539421-81539422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559004842	chr14:81539438-81539439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551884243	chr14:81539451-81539452	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
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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81522600-81545600	Weak transcription	Thymus	Thymus
2	chr14:81534600-81539000	ZNF genes & repeats	Dnd41	blood
3	chr14:81537000-81554200	Weak transcription	Fetal Thymus	thymus
4	chr14:81538200-81593000	Weak transcription	Psoas Muscle	Psoas
5	chr14:81539000-81539800	Weak transcription	Liver	Liver
6	chr14:81539000-81541000	Weak transcription	Dnd41	blood

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