Variant report

Variant	nsv523830
Chromosome Location	chr14:44578475-44586864
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 132 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7157988	chr14:44578475-44578476	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538005824	chr14:44578493-44578494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7157557	chr14:44578513-44578514	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs549358472	chr14:44578563-44578564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186637355	chr14:44578606-44578607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191489719	chr14:44578614-44578615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540155877	chr14:44578652-44578653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538538649	chr14:44578688-44578689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113332361	chr14:44578690-44578691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146880205	chr14:44578723-44578724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571753937	chr14:44578744-44578745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545482487	chr14:44578815-44578816	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563799179	chr14:44578854-44578855	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184796676	chr14:44578900-44578901	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543225055	chr14:44578916-44578917	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558531404	chr14:44578966-44578967	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529162770	chr14:44579022-44579023	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571734489	chr14:44579059-44579060	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11620954	chr14:44579078-44579079	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs62010963	chr14:44579193-44579194	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74048416	chr14:44579217-44579218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112978455	chr14:44579328-44579329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150461132	chr14:44579351-44579352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35019386	chr14:44579405-44579406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570827257	chr14:44579412-44579413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538350107	chr14:44579418-44579419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115192671	chr14:44579459-44579460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568665874	chr14:44579488-44579489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535742590	chr14:44579544-44579545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554083869	chr14:44579583-44579584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35449356	chr14:44579586-44579587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572414297	chr14:44579591-44579592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545347572	chr14:44579596-44579597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557757976	chr14:44579616-44579617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369499092	chr14:44579654-44579655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116702741	chr14:44579716-44579717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35240039	chr14:44579755-44579756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541326049	chr14:44579756-44579757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149158291	chr14:44579758-44579759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143313181	chr14:44579773-44579774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552567448	chr14:44579812-44579813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139023211	chr14:44579834-44579835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1955986	chr14:44579863-44579864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs550296200	chr14:44579925-44579926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574940432	chr14:44579934-44579935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199847228	chr14:44579944-44579945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1955985	chr14:44579956-44579957	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs113548377	chr14:44579993-44579994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369535794	chr14:44579997-44579998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547589967	chr14:44580025-44580026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44577200-44578600	Enhancers	HMEC	breast
2	chr14:44577400-44578600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:44577600-44578600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:44578400-44580600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:44578800-44579200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:44582400-44583400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr14:44582800-44583000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:44585400-44585800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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