Variant report

Variant	nsv1043662
Chromosome Location	chr14:41460286-41476483
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 681 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:681 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114350735	chr14:41460300-41460301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549353099	chr14:41460314-41460315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191178159	chr14:41460323-41460324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75861220	chr14:41460331-41460332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78148021	chr14:41460339-41460340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79647045	chr14:41460348-41460349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114459615	chr14:41460356-41460357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79297556	chr14:41460369-41460370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76507721	chr14:41460388-41460389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564851301	chr14:41460393-41460394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78258241	chr14:41460404-41460405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532186231	chr14:41460421-41460422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7144593	chr14:41460434-41460435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs182444340	chr14:41460445-41460446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7146166	chr14:41460476-41460477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs187063702	chr14:41460480-41460481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199712080	chr14:41460520-41460521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533826133	chr14:41460542-41460543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28768212	chr14:41460572-41460573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7145360	chr14:41460583-41460584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs537893425	chr14:41460608-41460609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138637563	chr14:41460612-41460613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574548138	chr14:41460653-41460654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535961035	chr14:41460704-41460705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554044010	chr14:41460718-41460719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182373418	chr14:41460762-41460763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546171291	chr14:41460837-41460838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187164348	chr14:41460845-41460846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576812227	chr14:41460863-41460864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544188175	chr14:41460913-41460914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374937059	chr14:41460918-41460919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376034717	chr14:41460919-41460920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375537986	chr14:41460920-41460921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6572046	chr14:41460963-41460964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs529728985	chr14:41460985-41460986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190091638	chr14:41461007-41461008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182978416	chr14:41461008-41461009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1779591	chr14:41461010-41461011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs552047686	chr14:41461018-41461019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187310179	chr14:41461054-41461055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1669562	chr14:41461077-41461078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs139440574	chr14:41461120-41461121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537755410	chr14:41461148-41461149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191976814	chr14:41461151-41461152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574659209	chr14:41461209-41461210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549730609	chr14:41461217-41461218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61983987	chr14:41461221-41461222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568138203	chr14:41461223-41461224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535554638	chr14:41461247-41461248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554274455	chr14:41461310-41461311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41444600-41473600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:41446200-41469400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:41446200-41473600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:41457400-41461800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:41457400-41464600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:41458200-41464000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:41466600-41469800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr14:41469000-41486600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:41469200-41469800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr14:41469400-41469600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:41469800-41470000	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:41469800-41470600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:41469800-41473200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr14:41470000-41472800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr14:41473600-41474000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:41474000-41476000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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