Variant report

Variant	nsv1046280
Chromosome Location	chr14:40241817-40293500
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	chr14:40275224..40277569-chr14:40280640..40282204,2	K562	blood:
2	chr14:40275224..40277569-chr14:40280640..40282204,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTAGE5-6	chr14:40243550-40243655	NONHSAT036552
2	lnc-CTAGE5-6	chr14:40249746-40249897	NONHSAT036552
3	lnc-CTAGE5-7	chr14:40289870-40289937	NONHSAT036553

Extended variants
information (count: 611 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144078738	chr14:40241902-40241903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531294071	chr14:40241915-40241916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550806273	chr14:40241926-40241927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570955942	chr14:40241929-40241930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs17109813	chr14:40241931-40241932	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs11848496	chr14:40241932-40241933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530436857	chr14:40241933-40241934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188944653	chr14:40241976-40241977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150985889	chr14:40242043-40242044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535873706	chr14:40242072-40242073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555777389	chr14:40242089-40242090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140857719	chr14:40242113-40242114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551723072	chr14:40242129-40242130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111252277	chr14:40242132-40242133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150178743	chr14:40242142-40242143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17109815	chr14:40242144-40242145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532695942	chr14:40242147-40242148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577764502	chr14:40242179-40242180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76195285	chr14:40242202-40242203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138375928	chr14:40242206-40242207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374107700	chr14:40242232-40242233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1958977	chr14:40242245-40242246	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs562137256	chr14:40242338-40242339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536851248	chr14:40242372-40242373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535730853	chr14:40242382-40242383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551192281	chr14:40242445-40242446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373063827	chr14:40242526-40242527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557339220	chr14:40242541-40242542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564954938	chr14:40242543-40242544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201941759	chr14:40242581-40242582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146950817	chr14:40242597-40242598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547144248	chr14:40242614-40242615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567079796	chr14:40242621-40242622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536141469	chr14:40242629-40242630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549439377	chr14:40242630-40242631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1958976	chr14:40242642-40242643	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs137978966	chr14:40242651-40242652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557978105	chr14:40242694-40242695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551778014	chr14:40242732-40242733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs17109818	chr14:40242762-40242763	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs570091636	chr14:40242862-40242863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533766974	chr14:40242865-40242866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553908406	chr14:40242887-40242888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573641098	chr14:40242896-40242897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1958975	chr14:40242900-40242901	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
46	rs77749492	chr14:40242936-40242937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575643962	chr14:40242944-40242945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377738767	chr14:40243072-40243073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544956708	chr14:40243235-40243236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577285900	chr14:40243326-40243327	Enhancers	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
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
Congenital diaphragmatic hernia	21525063	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40241400-40243200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr14:40241800-40242800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr14:40242000-40242800	Enhancers	H9 Cell Line	embryonic stem cell
4	chr14:40242200-40243000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr14:40242200-40243400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr14:40242600-40243000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr14:40242600-40243000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr14:40242800-40243200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr14:40245000-40247400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:40246200-40250000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:40249800-40250800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr14:40250000-40250600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr14:40250000-40250800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr14:40250000-40251000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr14:40250000-40251000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr14:40250000-40251000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr14:40250200-40250800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:40250200-40251000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr14:40250200-40251000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:40250400-40250800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:40250400-40251000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:40250400-40251000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:40250400-40251600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr14:40251600-40252600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr14:40252600-40255400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr14:40253400-40254200	Enhancers	Brain Germinal Matrix	brain
27	chr14:40253600-40254600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:40255400-40256200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr14:40256200-40256400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr14:40265600-40268000	Weak transcription	Aorta	Aorta
31	chr14:40266600-40267000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:40273000-40273400	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr14:40273800-40274200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:40274200-40274400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:40275200-40275800	Enhancers	Placenta Amnion	Placenta Amnion

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