Variant report

Variant	nsv1050818
Chromosome Location	chr14:62747610-62804856
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 969 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:969 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572124506	chr14:62747625-62747626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs8008494	chr14:62747664-62747665	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs184629063	chr14:62747681-62747682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530300901	chr14:62747687-62747688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190305820	chr14:62747719-62747720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182481313	chr14:62747722-62747723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532577893	chr14:62747752-62747753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552246660	chr14:62747754-62747755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370007497	chr14:62747792-62747793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530594354	chr14:62756005-62756006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550245846	chr14:62756039-62756040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570742470	chr14:62756061-62756062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147036468	chr14:62756085-62756086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553294961	chr14:62756122-62756123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74620899	chr14:62756125-62756126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535501837	chr14:62756133-62756134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369858312	chr14:62756147-62756148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12882106	chr14:62756172-62756173	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs12882108	chr14:62756176-62756177	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs558280582	chr14:62756179-62756180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547609040	chr14:62756187-62756188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184236866	chr14:62756198-62756199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577149417	chr14:62756201-62756202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549595935	chr14:62756208-62756209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545979046	chr14:62756256-62756257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534105116	chr14:62756303-62756304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74753443	chr14:62756312-62756313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528361547	chr14:62756313-62756314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368713839	chr14:62756346-62756347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541477145	chr14:62756354-62756355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561092699	chr14:62756358-62756359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369416785	chr14:62756362-62756363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs3914462	chr14:62756374-62756375	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs74057432	chr14:62756417-62756418	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs369296513	chr14:62756430-62756431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147659503	chr14:62756445-62756446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371108167	chr14:62756454-62756455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533361143	chr14:62756467-62756468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201191853	chr14:62756469-62756470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190295049	chr14:62756505-62756506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75195654	chr14:62756511-62756512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192551449	chr14:62756513-62756514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142447878	chr14:62756575-62756576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs72722732	chr14:62756625-62756626	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs538234025	chr14:62756687-62756688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184887599	chr14:62756718-62756719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189766564	chr14:62756742-62756743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546044127	chr14:62756744-62756745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553100084	chr14:62756795-62756796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6573430	chr14:62756802-62756803	Enhancers	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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:62747400-62747800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr14:62756000-62757400	Enhancers	NH-A	brain
3	chr14:62756000-62757600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:62756200-62756400	Enhancers	Right Atrium	heart
5	chr14:62758200-62758600	Enhancers	Right Atrium	heart
6	chr14:62766400-62767200	Enhancers	Stomach Mucosa	stomach
7	chr14:62766400-62769400	Enhancers	Brain Germinal Matrix	brain
8	chr14:62767200-62768000	Weak transcription	Stomach Mucosa	stomach
9	chr14:62767200-62768800	Enhancers	Hela-S3	cervix
10	chr14:62767200-62769000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr14:62767400-62767600	Enhancers	Brain Cingulate Gyrus	brain
12	chr14:62767400-62768400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:62767600-62771000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr14:62767800-62768200	Enhancers	Brain Substantia Nigra	brain
15	chr14:62768000-62768400	Enhancers	Fetal Intestine Small	intestine
16	chr14:62768000-62768800	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr14:62768000-62769000	Enhancers	Stomach Mucosa	stomach
18	chr14:62768000-62769400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:62768000-62769400	Enhancers	NH-A	brain
20	chr14:62768200-62768600	Weak transcription	Brain Substantia Nigra	brain
21	chr14:62768400-62768800	Weak transcription	Fetal Intestine Small	intestine
22	chr14:62768400-62769000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:62768400-62769400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:62768600-62768800	Enhancers	Brain Substantia Nigra	brain
25	chr14:62768800-62769200	Enhancers	Fetal Brain Male	brain
26	chr14:62768800-62771000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr14:62768800-62771000	Weak transcription	Brain Substantia Nigra	brain
28	chr14:62768800-62771800	Enhancers	Fetal Intestine Small	intestine
29	chr14:62769000-62769200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:62769000-62769400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:62769000-62769400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr14:62769000-62770600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr14:62769000-62771200	Weak transcription	Stomach Mucosa	stomach
34	chr14:62769200-62769800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:62769400-62771000	Weak transcription	Brain Germinal Matrix	brain
36	chr14:62769800-62770000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr14:62770000-62770800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:62770200-62771600	Enhancers	Duodenum Mucosa	Duodenum
39	chr14:62770200-62771600	Enhancers	Fetal Intestine Large	intestine
40	chr14:62770400-62770800	Enhancers	Liver	Liver
41	chr14:62770600-62771800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr14:62770800-62771400	Flanking Active TSS	Liver	Liver
43	chr14:62770800-62772000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:62771000-62771200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:62771000-62771200	Active TSS	Brain Cingulate Gyrus	brain
46	chr14:62771000-62771400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:62771000-62771400	Enhancers	Brain Angular Gyrus	brain
48	chr14:62771000-62771400	Enhancers	Brain Germinal Matrix	brain
49	chr14:62771000-62771400	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr14:62771000-62771600	Enhancers	Brain Substantia Nigra	brain

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