Variant report

Variant	nsv826932
Chromosome Location	chr14:41897273-41900742
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 154 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:154 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79765410	chr14:41897277-41897278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553501643	chr14:41897282-41897283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs578078235	chr14:41897312-41897313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192217457	chr14:41897316-41897317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7149000	chr14:41897318-41897319	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs575818371	chr14:41897334-41897335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77284820	chr14:41897354-41897355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182678338	chr14:41897379-41897380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528662499	chr14:41897420-41897421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533540063	chr14:41897442-41897443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555440469	chr14:41897481-41897482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546833514	chr14:41897483-41897484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559010570	chr14:41897500-41897501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553390945	chr14:41897584-41897585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573783930	chr14:41897620-41897621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369691249	chr14:41897625-41897626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567006146	chr14:41897638-41897639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533078292	chr14:41897667-41897668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551063454	chr14:41897669-41897670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569651325	chr14:41897699-41897700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536909488	chr14:41897734-41897735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113465344	chr14:41897756-41897757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186070465	chr14:41897762-41897763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567612406	chr14:41897774-41897775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534801209	chr14:41897820-41897821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1960397	chr14:41897855-41897856	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs1115986	chr14:41897870-41897871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576122336	chr14:41897871-41897872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539143394	chr14:41897881-41897882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557037517	chr14:41897942-41897943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1960398	chr14:41897981-41897982	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs190266675	chr14:41897983-41897984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561239949	chr14:41897991-41897992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573237411	chr14:41897998-41897999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540407124	chr14:41898014-41898015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565160764	chr14:41898036-41898037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532854564	chr14:41898068-41898069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182548071	chr14:41898076-41898077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34426913	chr14:41898081-41898082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576481033	chr14:41898082-41898083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186829549	chr14:41898246-41898247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549039771	chr14:41898304-41898305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567551646	chr14:41898335-41898336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377505879	chr14:41898416-41898417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534944211	chr14:41898427-41898428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546788613	chr14:41898460-41898461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148482746	chr14:41898464-41898465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369235502	chr14:41898482-41898483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557428019	chr14:41898486-41898487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192175536	chr14:41898502-41898503	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
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41895400-41897400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:41897400-41897800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr14:41897400-41898000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr14:41898000-41902400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr14:41899400-41899800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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