Variant report

Variant	nsv902011
Chromosome Location	chr14:62710865-62872487
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	chr14:62869114..62869986-chr14:62881899..62882792,2	MCF-7	breast:

Extended variants
information (count: 1709 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1709 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113635466	chr14:62713634-62713635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182140664	chr14:62713658-62713659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368696978	chr14:62713710-62713711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148467883	chr14:62713734-62713735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186738538	chr14:62713743-62713744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552057918	chr14:62713744-62713745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190055773	chr14:62713758-62713759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375328282	chr14:62713784-62713785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528368805	chr14:62713819-62713820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541805716	chr14:62713843-62713844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555233270	chr14:62713858-62713859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567945258	chr14:62713877-62713878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182162918	chr14:62713921-62713922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368201274	chr14:62713929-62713930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142612424	chr14:62713969-62713970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78963685	chr14:62714005-62714006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79589992	chr14:62714029-62714030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186123682	chr14:62714048-62714049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189804898	chr14:62714062-62714063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77322011	chr14:62714100-62714101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535753584	chr14:62714122-62714123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376614346	chr14:62714145-62714146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536461798	chr14:62714147-62714148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555765821	chr14:62714148-62714149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575517244	chr14:62714149-62714150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555947645	chr14:62714151-62714152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544323585	chr14:62714160-62714161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557785983	chr14:62714189-62714190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77490653	chr14:62714198-62714199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375959222	chr14:62714226-62714227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563307623	chr14:62714270-62714271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140614856	chr14:62714274-62714275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545637405	chr14:62714367-62714368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144485918	chr14:62714428-62714429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145696303	chr14:62714437-62714438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140075731	chr14:62714463-62714464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10133065	chr14:62714476-62714477	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs182130371	chr14:62714542-62714543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185615209	chr14:62714558-62714559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191152292	chr14:62714567-62714568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570601453	chr14:62714593-62714594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533056681	chr14:62714605-62714606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11622179	chr14:62714607-62714608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs116472251	chr14:62714657-62714658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1399524	chr14:62714658-62714659	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs183857517	chr14:62714685-62714686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555757815	chr14:62714704-62714705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78756810	chr14:62714709-62714710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537808804	chr14:62714710-62714711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11845584	chr14:62714733-62714734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
T-cell prolymphocytic leukemia	17713554	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
Non-syndromic sensorineural hearing loss	22037309	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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:62713600-62714400	Enhancers	Fetal Lung	lung
2	chr14:62714200-62714600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr14:62714400-62717800	Weak transcription	Fetal Lung	lung
4	chr14:62716000-62716400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:62716400-62717400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:62717400-62719000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:62717600-62718800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:62717800-62718400	Enhancers	HepG2	liver
9	chr14:62717800-62719000	Enhancers	Stomach Mucosa	stomach
10	chr14:62717800-62720600	Enhancers	Fetal Lung	lung
11	chr14:62719000-62719400	Weak transcription	Stomach Mucosa	stomach
12	chr14:62719200-62719600	Enhancers	Fetal Stomach	stomach
13	chr14:62719400-62721400	Enhancers	Stomach Mucosa	stomach
14	chr14:62719600-62720600	Weak transcription	Fetal Stomach	stomach
15	chr14:62720600-62720800	Enhancers	Fetal Stomach	stomach
16	chr14:62724800-62725400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr14:62746200-62746600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:62747400-62747800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr14:62756000-62757400	Enhancers	NH-A	brain
20	chr14:62756000-62757600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:62756200-62756400	Enhancers	Right Atrium	heart
22	chr14:62758200-62758600	Enhancers	Right Atrium	heart
23	chr14:62766400-62767200	Enhancers	Stomach Mucosa	stomach
24	chr14:62766400-62769400	Enhancers	Brain Germinal Matrix	brain
25	chr14:62767200-62768000	Weak transcription	Stomach Mucosa	stomach
26	chr14:62767200-62768800	Enhancers	Hela-S3	cervix
27	chr14:62767200-62769000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr14:62767400-62767600	Enhancers	Brain Cingulate Gyrus	brain
29	chr14:62767400-62768400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:62767600-62771000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr14:62767800-62768200	Enhancers	Brain Substantia Nigra	brain
32	chr14:62768000-62768400	Enhancers	Fetal Intestine Small	intestine
33	chr14:62768000-62768800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr14:62768000-62769000	Enhancers	Stomach Mucosa	stomach
35	chr14:62768000-62769400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:62768000-62769400	Enhancers	NH-A	brain
37	chr14:62768200-62768600	Weak transcription	Brain Substantia Nigra	brain
38	chr14:62768400-62768800	Weak transcription	Fetal Intestine Small	intestine
39	chr14:62768400-62769000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:62768400-62769400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:62768600-62768800	Enhancers	Brain Substantia Nigra	brain
42	chr14:62768800-62769200	Enhancers	Fetal Brain Male	brain
43	chr14:62768800-62771000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr14:62768800-62771000	Weak transcription	Brain Substantia Nigra	brain
45	chr14:62768800-62771800	Enhancers	Fetal Intestine Small	intestine
46	chr14:62769000-62769200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr14:62769000-62769400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:62769000-62769400	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr14:62769000-62770600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr14:62769000-62771200	Weak transcription	Stomach Mucosa	stomach

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