Variant report

Variant	nsv456222
Chromosome Location	chr14:41318106-41378933
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	chr14:41377936..41380382-chr14:41413256..41415527,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRFN5-6	chr14:41324152-41324457	NONHSAT036561

Extended variants
information (count: 927 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:927 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543424955	chr14:41319601-41319602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561592444	chr14:41319678-41319679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs202003203	chr14:41319739-41319740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs71438771	chr14:41319740-41319741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs59292714	chr14:41319741-41319742	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs550526905	chr14:41319775-41319776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562050507	chr14:41319826-41319827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149774270	chr14:41319832-41319833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533048996	chr14:41319834-41319835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375028349	chr14:41319853-41319854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369213839	chr14:41319873-41319874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs61983946	chr14:41319894-41319895	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs370718187	chr14:41319924-41319925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185004765	chr14:41319925-41319926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530778858	chr14:41319972-41319973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549366499	chr14:41319989-41319990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73306155	chr14:41323212-41323213	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs568889835	chr14:41323253-41323254	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs141670745	chr14:41323276-41323277	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs554742524	chr14:41323308-41323309	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs566707830	chr14:41323318-41323319	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs182089716	chr14:41323320-41323321	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs2415647	chr14:41323332-41323333	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs146360010	chr14:41323385-41323386	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs187042316	chr14:41323397-41323398	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs74649686	chr14:41323440-41323441	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs556329723	chr14:41323441-41323442	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs574864955	chr14:41323443-41323444	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs541991619	chr14:41323447-41323448	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs527714424	chr14:41323485-41323486	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs372589540	chr14:41323506-41323507	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs560712653	chr14:41323507-41323508	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs377574291	chr14:41323525-41323526	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs546000296	chr14:41323555-41323556	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs554038842	chr14:41323578-41323579	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs192535658	chr14:41323801-41323802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149639707	chr14:41323806-41323807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183844693	chr14:41323807-41323808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114108009	chr14:41323809-41323810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144368561	chr14:41323827-41323828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556504974	chr14:41323891-41323892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574766958	chr14:41323902-41323903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574319147	chr14:41323989-41323990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12879883	chr14:41324045-41324046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148801324	chr14:41324055-41324056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12879764	chr14:41324094-41324095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12879602	chr14:41324100-41324101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12880934	chr14:41324101-41324102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553812522	chr14:41324150-41324151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574019943	chr14:41324186-41324187	Weak transcription	lncRNA	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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41319600-41320000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:41323200-41323600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:41323800-41327800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr14:41327800-41328800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr14:41328000-41328400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr14:41328000-41328800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr14:41328200-41328800	Enhancers	H9 Cell Line	embryonic stem cell
8	chr14:41328400-41328600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:41328400-41328800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:41328600-41345200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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