Variant report

Variant	nsv564891
Chromosome Location	chr14:62763347-62806160
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 854 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77336649	chr14:62766436-62766437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181499262	chr14:62766472-62766473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574753808	chr14:62766482-62766483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543728376	chr14:62766505-62766506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563339095	chr14:62766548-62766549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370466880	chr14:62766549-62766550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532331303	chr14:62766626-62766627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376587341	chr14:62766627-62766628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552254065	chr14:62766633-62766634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559145780	chr14:62766635-62766636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373893671	chr14:62766636-62766637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548347711	chr14:62766689-62766690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371199255	chr14:62766716-62766717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs71449586	chr14:62766756-62766757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369577732	chr14:62766757-62766758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201978969	chr14:62766758-62766759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs60778292	chr14:62766759-62766760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs367853923	chr14:62766843-62766844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371781904	chr14:62766847-62766848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12890454	chr14:62766896-62766897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568292884	chr14:62766929-62766930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558007007	chr14:62766935-62766936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12436268	chr14:62766954-62766955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12436269	chr14:62766956-62766957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537382845	chr14:62766999-62767000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200496055	chr14:62767005-62767006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114378691	chr14:62767102-62767103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184449067	chr14:62767130-62767131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553439674	chr14:62767137-62767138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200618092	chr14:62767178-62767179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375933970	chr14:62767207-62767208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573338765	chr14:62767233-62767234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534831969	chr14:62767237-62767238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1399521	chr14:62767266-62767267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368942622	chr14:62767280-62767281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574679085	chr14:62767334-62767335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188446453	chr14:62767336-62767337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141558147	chr14:62767342-62767343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555046564	chr14:62767379-62767380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576783240	chr14:62767381-62767382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545449410	chr14:62767414-62767415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372195128	chr14:62767418-62767419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117658762	chr14:62767425-62767426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181337128	chr14:62767431-62767432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547865134	chr14:62767464-62767465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375779989	chr14:62767478-62767479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367770289	chr14:62767486-62767487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541052977	chr14:62767503-62767504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185930177	chr14:62767516-62767517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571015182	chr14:62767517-62767518	Enhancers Weak transcription	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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Leukemia	18688285	CNVD
early-passage human iPS cells	21368824	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	21811512	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:62766400-62767200	Enhancers	Stomach Mucosa	stomach
2	chr14:62766400-62769400	Enhancers	Brain Germinal Matrix	brain
3	chr14:62767200-62768000	Weak transcription	Stomach Mucosa	stomach
4	chr14:62767200-62768800	Enhancers	Hela-S3	cervix
5	chr14:62767200-62769000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr14:62767400-62767600	Enhancers	Brain Cingulate Gyrus	brain
7	chr14:62767400-62768400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:62767600-62771000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr14:62767800-62768200	Enhancers	Brain Substantia Nigra	brain
10	chr14:62768000-62768400	Enhancers	Fetal Intestine Small	intestine
11	chr14:62768000-62768800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr14:62768000-62769000	Enhancers	Stomach Mucosa	stomach
13	chr14:62768000-62769400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:62768000-62769400	Enhancers	NH-A	brain
15	chr14:62768200-62768600	Weak transcription	Brain Substantia Nigra	brain
16	chr14:62768400-62768800	Weak transcription	Fetal Intestine Small	intestine
17	chr14:62768400-62769000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:62768400-62769400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:62768600-62768800	Enhancers	Brain Substantia Nigra	brain
20	chr14:62768800-62769200	Enhancers	Fetal Brain Male	brain
21	chr14:62768800-62771000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr14:62768800-62771000	Weak transcription	Brain Substantia Nigra	brain
23	chr14:62768800-62771800	Enhancers	Fetal Intestine Small	intestine
24	chr14:62769000-62769200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:62769000-62769400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:62769000-62769400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr14:62769000-62770600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr14:62769000-62771200	Weak transcription	Stomach Mucosa	stomach
29	chr14:62769200-62769800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:62769400-62771000	Weak transcription	Brain Germinal Matrix	brain
31	chr14:62769800-62770000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr14:62770000-62770800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:62770200-62771600	Enhancers	Duodenum Mucosa	Duodenum
34	chr14:62770200-62771600	Enhancers	Fetal Intestine Large	intestine
35	chr14:62770400-62770800	Enhancers	Liver	Liver
36	chr14:62770600-62771800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr14:62770800-62771400	Flanking Active TSS	Liver	Liver
38	chr14:62770800-62772000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr14:62771000-62771200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr14:62771000-62771200	Active TSS	Brain Cingulate Gyrus	brain
41	chr14:62771000-62771400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:62771000-62771400	Enhancers	Brain Angular Gyrus	brain
43	chr14:62771000-62771400	Enhancers	Brain Germinal Matrix	brain
44	chr14:62771000-62771400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr14:62771000-62771600	Enhancers	Brain Substantia Nigra	brain
46	chr14:62771200-62771400	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr14:62771200-62771600	Enhancers	Stomach Mucosa	stomach
48	chr14:62771400-62771800	Enhancers	Liver	Liver
49	chr14:62771400-62775600	Weak transcription	Brain Germinal Matrix	brain
50	chr14:62771600-62775200	Weak transcription	Duodenum Mucosa	Duodenum

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