Variant report

Variant	nsv9142
Chromosome Location	chr14:44414076-44416693
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561794854	chr14:44414127-44414128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534337935	chr14:44414129-44414130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181563496	chr14:44414145-44414146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17243446	chr14:44414146-44414147	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs538382134	chr14:44414185-44414186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550638463	chr14:44414232-44414233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556731252	chr14:44414239-44414240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564371812	chr14:44414250-44414251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575393304	chr14:44414279-44414280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372791809	chr14:44414328-44414329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562614802	chr14:44414339-44414340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536497989	chr14:44414343-44414344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554573946	chr14:44414363-44414364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199998729	chr14:44414382-44414383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375024402	chr14:44414389-44414390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573941944	chr14:44414416-44414417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541088965	chr14:44414419-44414420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559813253	chr14:44414453-44414454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17278670	chr14:44414462-44414463	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs545566528	chr14:44414466-44414467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34471847	chr14:44414513-44414514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142223738	chr14:44414529-44414530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150808146	chr14:44414587-44414588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549619712	chr14:44414612-44414613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs28380763	chr14:44414720-44414721	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs528811829	chr14:44414723-44414724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546176503	chr14:44414746-44414747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570953520	chr14:44414762-44414763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538341061	chr14:44414834-44414835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550262061	chr14:44414851-44414852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568990931	chr14:44414874-44414875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536071555	chr14:44414880-44414881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554820162	chr14:44414892-44414893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573030828	chr14:44414952-44414953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534116058	chr14:44414957-44414958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553393473	chr14:44414982-44414983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77248557	chr14:44415021-44415022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139301172	chr14:44415023-44415024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144112141	chr14:44415131-44415132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535548205	chr14:44415132-44415133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146448855	chr14:44415140-44415141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542832920	chr14:44415161-44415162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549431972	chr14:44415196-44415197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561565852	chr14:44415207-44415208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569043581	chr14:44415240-44415241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532731275	chr14:44415241-44415242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528774149	chr14:44415317-44415318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113934143	chr14:44415357-44415358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546937796	chr14:44415375-44415376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556654553	chr14:44415383-44415384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	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
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	17363583	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44411800-44415000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:44415000-44418000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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