Variant report

Variant	nsv565213
Chromosome Location	chr14:78295342-78296691
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28489182	chr14:78295342-78295343	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs111773389	chr14:78295358-78295359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146143812	chr14:78295401-78295402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535762245	chr14:78295413-78295414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190893320	chr14:78295458-78295459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113501602	chr14:78295520-78295521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142253239	chr14:78295553-78295554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552586003	chr14:78295562-78295563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2364842	chr14:78295578-78295579	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs577832891	chr14:78295590-78295591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2364843	chr14:78295637-78295638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35370816	chr14:78295638-78295639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369049859	chr14:78295653-78295654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376252153	chr14:78295675-78295676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182936295	chr14:78295685-78295686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550375181	chr14:78295700-78295701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559259087	chr14:78295739-78295740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568691469	chr14:78295756-78295757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186663029	chr14:78295839-78295840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570563769	chr14:78295849-78295850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533261094	chr14:78295875-78295876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199677985	chr14:78295894-78295895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116970712	chr14:78295906-78295907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569945577	chr14:78295999-78296000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191074956	chr14:78296059-78296060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555767948	chr14:78296066-78296067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547782849	chr14:78296079-78296080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140471694	chr14:78296102-78296103	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535200193	chr14:78296117-78296118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558396485	chr14:78296142-78296143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11159292	chr14:78296173-78296174	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs183224681	chr14:78296253-78296254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187677813	chr14:78296293-78296294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557776168	chr14:78296301-78296302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542625534	chr14:78296438-78296439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559193597	chr14:78296451-78296452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116437887	chr14:78296456-78296457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10149767	chr14:78296468-78296469	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs564727758	chr14:78296481-78296482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78202442	chr14:78296499-78296500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193108812	chr14:78296539-78296540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536780508	chr14:78296547-78296548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11847125	chr14:78296551-78296552	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs529236426	chr14:78296566-78296567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150007610	chr14:78296587-78296588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566327861	chr14:78296590-78296591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535329550	chr14:78296592-78296593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147702822	chr14:78296646-78296647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573297134	chr14:78296647-78296648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Hepatocellular carcinoma	16750200	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Biliary cancer	19435499	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intracranial aneurysm	16715129	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22209245	CNVD
Prostate cancer	22553170	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78267200-78304200	Weak transcription	HSMMtube	muscle
2	chr14:78267200-78310800	Weak transcription	Esophagus	oesophagus
3	chr14:78274800-78316600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:78283200-78301800	Weak transcription	Small Intestine	intestine
5	chr14:78283600-78311000	Weak transcription	Hela-S3	cervix
6	chr14:78283800-78297200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:78284000-78299400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr14:78284200-78298000	Weak transcription	HepG2	liver
9	chr14:78284200-78309400	Weak transcription	Brain Germinal Matrix	brain
10	chr14:78284200-78312600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr14:78284800-78300800	Weak transcription	Fetal Brain Male	brain
12	chr14:78284800-78305200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:78285800-78305800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr14:78286200-78299000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr14:78286200-78301800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr14:78286200-78303000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr14:78286400-78299200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr14:78286400-78300400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:78286400-78303000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr14:78286400-78305200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:78287000-78297400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr14:78287000-78301400	Weak transcription	Right Ventricle	heart
23	chr14:78287000-78309400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr14:78287000-78309600	Weak transcription	Osteobl	bone
25	chr14:78288600-78299400	Weak transcription	GM12878-XiMat	blood
26	chr14:78289200-78296600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr14:78289200-78297000	Weak transcription	Aorta	Aorta
28	chr14:78289200-78301200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr14:78289200-78303400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:78289400-78296600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr14:78289400-78297000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:78289400-78298600	Weak transcription	Brain Angular Gyrus	brain
33	chr14:78289400-78298600	Weak transcription	Brain Substantia Nigra	brain
34	chr14:78289400-78300600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:78289400-78301000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:78289400-78301800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr14:78289400-78305000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr14:78289400-78305200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr14:78289400-78305200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:78289600-78295400	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr14:78289600-78295400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr14:78289600-78295400	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr14:78289600-78295600	Weak transcription	Liver	Liver
44	chr14:78289600-78296000	Weak transcription	Brain Hippocampus Middle	brain
45	chr14:78289600-78296000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr14:78289600-78296600	Weak transcription	Left Ventricle	heart
47	chr14:78289600-78297200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr14:78289600-78297200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr14:78289600-78299400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr14:78289600-78300200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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