Variant report

Variant	nsv522485
Chromosome Location	chr14:41870230-41871875
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12431871	chr14:41870230-41870231	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562374498	chr14:41870287-41870288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531481314	chr14:41870292-41870293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138351868	chr14:41870294-41870295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11844708	chr14:41870311-41870312	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs529070565	chr14:41870330-41870331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547163447	chr14:41870354-41870355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145474131	chr14:41870358-41870359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539521498	chr14:41870361-41870362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558169844	chr14:41870377-41870378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs28737443	chr14:41870385-41870386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569945206	chr14:41870425-41870426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537403350	chr14:41870435-41870436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555586910	chr14:41870457-41870458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574043985	chr14:41870535-41870536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375523897	chr14:41870564-41870565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs397946873	chr14:41870586-41870587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112938570	chr14:41870604-41870605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556599015	chr14:41870693-41870694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553583521	chr14:41870806-41870807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79475939	chr14:41870880-41870881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138008628	chr14:41870896-41870897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189720366	chr14:41870897-41870898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575956341	chr14:41870922-41870923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192866166	chr14:41870966-41870967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527646919	chr14:41870985-41870986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561649243	chr14:41870987-41870988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185342652	chr14:41870992-41870993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190193900	chr14:41871020-41871021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367880745	chr14:41871095-41871096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559109250	chr14:41871104-41871105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533107113	chr14:41871119-41871120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551392390	chr14:41871154-41871155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74579939	chr14:41871211-41871212	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs537068497	chr14:41871214-41871215	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs118051373	chr14:41871215-41871216	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs567790291	chr14:41871232-41871233	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs535107676	chr14:41871249-41871250	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs553643846	chr14:41871253-41871254	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs117780794	chr14:41871279-41871280	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs539182058	chr14:41871291-41871292	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs557384890	chr14:41871303-41871304	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs575865553	chr14:41871305-41871306	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs543077765	chr14:41871319-41871320	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs181511213	chr14:41871341-41871342	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs112302778	chr14:41871398-41871399	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs375174912	chr14:41871403-41871404	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs186274554	chr14:41871418-41871419	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs189226338	chr14:41871426-41871427	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs112772056	chr14:41871453-41871454	Enhancers Weak transcription Flanking Active TSS	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
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
Bipolar disorder	19114987	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41867400-41870600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr14:41867400-41870800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr14:41868000-41870800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr14:41869200-41871200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr14:41869200-41872800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr14:41869800-41872800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:41870000-41870400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr14:41870000-41872400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr14:41870200-41870400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:41870400-41872400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr14:41870600-41871000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr14:41870600-41872800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr14:41870600-41895400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:41870800-41871800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr14:41870800-41871800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr14:41871000-41888400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr14:41871200-41871600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr14:41871400-41871800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr14:41871600-41872200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr14:41871800-41873400	Weak transcription	H1 Cell Line	embryonic stem cell

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