Variant report

Variant	nsv564600
Chromosome Location	chr14:42988346-42996368
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:42995581..42997108-chr14:42999086..43001857,2	K562	blood:

Extended variants
information (count: 285 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12884459	chr14:42988346-42988347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138478630	chr14:42988367-42988368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535334153	chr14:42988387-42988388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549121609	chr14:42988409-42988410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553944811	chr14:42988431-42988432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78464557	chr14:42988489-42988490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183000738	chr14:42988529-42988530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557753025	chr14:42988549-42988550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188173605	chr14:42988578-42988579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs59863336	chr14:42988620-42988621	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs538034418	chr14:42988675-42988676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558476595	chr14:42988690-42988691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553237220	chr14:42988731-42988732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143231320	chr14:42988736-42988737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561678584	chr14:42988771-42988772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112645693	chr14:42988786-42988787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559899942	chr14:42988795-42988796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533416582	chr14:42988816-42988817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2415750	chr14:42988819-42988820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs569697431	chr14:42988872-42988873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148332732	chr14:42988891-42988892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1499386	chr14:42988895-42988896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs191363666	chr14:42988927-42988928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141481780	chr14:42988934-42988935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553658874	chr14:42989005-42989006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371312985	chr14:42989030-42989031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565900018	chr14:42989042-42989043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572998745	chr14:42989134-42989135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558113002	chr14:42989160-42989161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182651368	chr14:42989198-42989199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543484483	chr14:42989217-42989218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569582717	chr14:42989291-42989292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147472217	chr14:42989298-42989299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573607964	chr14:42989329-42989330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115786720	chr14:42989388-42989389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559654025	chr14:42989474-42989475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541976978	chr14:42989511-42989512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533381527	chr14:42989529-42989530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4905797	chr14:42989540-42989541	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs187607213	chr14:42989568-42989569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531122567	chr14:42989609-42989610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549063372	chr14:42989622-42989623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567675463	chr14:42989625-42989626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528546023	chr14:42989678-42989679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530777391	chr14:42989698-42989699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573121089	chr14:42989704-42989705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192432346	chr14:42989761-42989762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138830561	chr14:42989789-42989790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539692917	chr14:42989824-42989825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558074441	chr14:42989827-42989828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Glioblastoma multiforme	21569311	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42987600-42992800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:42988000-42991400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:42992200-42994800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:42992800-42993200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr14:42992800-42993200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:42992800-42993200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:42992800-42993200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:42992800-42993200	Enhancers	Brain Anterior Caudate	brain
9	chr14:42992800-42993400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr14:42992800-42993600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:42993000-42993200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr14:42993000-42993200	Enhancers	Brain Substantia Nigra	brain
13	chr14:42993000-42993200	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr14:42993000-42993200	Enhancers	Fetal Lung	lung
15	chr14:42993000-42993600	Enhancers	Fetal Brain Female	brain
16	chr14:42993200-42996600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr14:42993600-42994000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:42994000-42994600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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