Variant report

Variant	nsv983768
Chromosome Location	chr14:40005135-40023820
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 215 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551737495	chr14:40005208-40005209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564154319	chr14:40005258-40005259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs8012131	chr14:40005289-40005290	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs532666649	chr14:40005306-40005307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552736565	chr14:40005315-40005316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566287869	chr14:40005324-40005325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs17109364	chr14:40005333-40005334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs117523259	chr14:40005343-40005344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568083780	chr14:40005355-40005356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539916518	chr14:40005417-40005418	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188998309	chr14:40005418-40005419	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557064567	chr14:40005433-40005434	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576905095	chr14:40005444-40005445	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149402375	chr14:40005450-40005451	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190860463	chr14:40005463-40005464	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117794145	chr14:40005467-40005468	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542080577	chr14:40005491-40005492	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540171275	chr14:40005494-40005495	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117540735	chr14:40005495-40005496	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555671510	chr14:40005514-40005515	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561682997	chr14:40005535-40005536	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147510602	chr14:40005680-40005681	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573882114	chr14:40005738-40005739	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544208248	chr14:40005799-40005800	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75873826	chr14:40005807-40005808	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74049049	chr14:40005834-40005835	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs566100005	chr14:40005869-40005870	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559849094	chr14:40005959-40005960	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528802635	chr14:40005966-40005967	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11623451	chr14:40005974-40005975	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs568397299	chr14:40006009-40006010	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555250869	chr14:40006057-40006058	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550558777	chr14:40006061-40006062	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182663572	chr14:40006150-40006151	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539880254	chr14:40006151-40006152	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112518988	chr14:40006178-40006179	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566627685	chr14:40006202-40006203	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs535277494	chr14:40006205-40006206	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs555728222	chr14:40006206-40006207	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs2899891	chr14:40006236-40006237	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs544268158	chr14:40006239-40006240	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs557746948	chr14:40006242-40006243	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs577669304	chr14:40006261-40006262	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs540293413	chr14:40006263-40006264	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs532930765	chr14:40006266-40006267	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs559711365	chr14:40006267-40006268	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs115936810	chr14:40006291-40006292	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs561984734	chr14:40006304-40006305	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs562090257	chr14:40006314-40006315	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs531100557	chr14:40006426-40006427	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Invasive pancreatic ductal carcinoma	16982739	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
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40004000-40005600	Weak transcription	Ovary	ovary
2	chr14:40004200-40007000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr14:40004800-40006800	Weak transcription	Right Ventricle	heart
4	chr14:40005400-40005800	ZNF genes & repeats	Gastric	stomach
5	chr14:40005600-40005800	ZNF genes & repeats	Ovary	ovary
6	chr14:40005600-40007600	ZNF genes & repeats	Pancreas	Pancrea
7	chr14:40005800-40006000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:40005800-40006200	Strong transcription	Ovary	ovary
9	chr14:40006000-40006200	ZNF genes & repeats	Left Ventricle	heart
10	chr14:40006200-40010400	Weak transcription	Ovary	ovary
11	chr14:40007600-40008000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:40023400-40024400	Enhancers	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links