Variant report

Variant	nsv521541
Chromosome Location	chr14:32213352-32223241
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 360 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8016912	chr14:32213352-32213353	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183704890	chr14:32213363-32213364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566899761	chr14:32213373-32213374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117753740	chr14:32213400-32213401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141507923	chr14:32213420-32213421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73255158	chr14:32213473-32213474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs530020267	chr14:32213506-32213507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548225404	chr14:32213539-32213540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs8018186	chr14:32213558-32213559	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs556520912	chr14:32213614-32213615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs28548899	chr14:32213636-32213637	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs557524322	chr14:32213639-32213640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369506232	chr14:32213669-32213670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146395134	chr14:32213678-32213679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369058995	chr14:32213719-32213720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188419379	chr14:32213745-32213746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571675474	chr14:32213756-32213757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537944906	chr14:32213822-32213823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142064774	chr14:32213823-32213824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542282223	chr14:32213835-32213836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542827846	chr14:32213844-32213845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34367142	chr14:32213845-32213846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11847014	chr14:32213913-32213914	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs570982515	chr14:32213914-32213915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111688693	chr14:32213918-32213919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11847815	chr14:32214002-32214003	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs142352686	chr14:32214015-32214016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533443927	chr14:32214056-32214057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4981895	chr14:32214070-32214071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs566985246	chr14:32214079-32214080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12588396	chr14:32214100-32214101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs549120390	chr14:32214103-32214104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575452910	chr14:32214117-32214118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144932681	chr14:32214118-32214119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559225734	chr14:32214133-32214134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150125769	chr14:32214144-32214145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148665118	chr14:32214151-32214152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369825737	chr14:32214246-32214247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199971872	chr14:32214249-32214250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138415624	chr14:32214250-32214251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377727223	chr14:32214251-32214252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111795745	chr14:32214255-32214256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181974973	chr14:32214264-32214265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200416275	chr14:32214270-32214271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4981896	chr14:32214271-32214272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187574460	chr14:32214315-32214316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574325193	chr14:32214324-32214325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572968750	chr14:32214334-32214335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571809070	chr14:32214344-32214345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540070615	chr14:32214356-32214357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	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
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32173400-32218000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:32209200-32214600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr14:32214800-32215800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr14:32215000-32215400	ZNF genes & repeats	Liver	Liver
5	chr14:32215400-32215800	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr14:32216600-32217800	Enhancers	HepG2	liver
7	chr14:32220000-32221000	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr14:32220000-32221200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr14:32220000-32221200	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr14:32220200-32221000	Enhancers	Duodenum Mucosa	Duodenum
11	chr14:32220800-32221400	ZNF genes & repeats	Fetal Intestine Small	intestine
12	chr14:32221000-32221200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:32221000-32222400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr14:32221200-32222400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:32222200-32222600	ZNF genes & repeats	Aorta	Aorta
16	chr14:32222400-32222600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:32222600-32270200	Weak transcription	Aorta	Aorta

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