Variant report

Variant	nsv901717
Chromosome Location	chr14:41606851-41668334
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRFN5-1	chr14:41610037-41610251	NR_109758

Extended variants
information (count: 566 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:566 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11157201	chr14:41606851-41606852	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577387923	chr14:41606861-41606862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11157202	chr14:41606882-41606883	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs180852597	chr14:41606889-41606890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554058420	chr14:41606891-41606892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10782400	chr14:41606899-41606900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs539754000	chr14:41606980-41606981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114148838	chr14:41606984-41606985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572389818	chr14:41607067-41607068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113397251	chr14:41607068-41607069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541103672	chr14:41607094-41607095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34863254	chr14:41607119-41607120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576382351	chr14:41607133-41607134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186694642	chr14:41607172-41607173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530137934	chr14:41607199-41607200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190054311	chr14:41607220-41607221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574107298	chr14:41607279-41607280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375926095	chr14:41607287-41607288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541124321	chr14:41607292-41607293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541914506	chr14:41607323-41607324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35644173	chr14:41607329-41607330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559559563	chr14:41607375-41607376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181086593	chr14:41607377-41607378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545297885	chr14:41607396-41607397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563609571	chr14:41607403-41607404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531096295	chr14:41607445-41607446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563572004	chr14:41607462-41607463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12878606	chr14:41607497-41607498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs76316651	chr14:41607544-41607545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561524936	chr14:41607551-41607552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529024200	chr14:41607589-41607590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547477681	chr14:41607590-41607591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143829606	chr14:41607621-41607622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs151107034	chr14:41607623-41607624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551714206	chr14:41607658-41607659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199787466	chr14:41607694-41607695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569965452	chr14:41607756-41607757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185952834	chr14:41607764-41607765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555775833	chr14:41607777-41607778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140940383	chr14:41607797-41607798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190317622	chr14:41607819-41607820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375056634	chr14:41607832-41607833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145911981	chr14:41607844-41607845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553002531	chr14:41607881-41607882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577836353	chr14:41607882-41607883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545232462	chr14:41607898-41607899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563710523	chr14:41607918-41607919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184093608	chr14:41607946-41607947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563564267	chr14:41607948-41607949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146273272	chr14:41607953-41607954	Weak transcription	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
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
Pancreatic ductal adenocarcinoma	19077451	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41606200-41615800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr14:41611200-41613600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:41611400-41613800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:41613600-41613800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:41613600-41614000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr14:41613600-41614800	Enhancers	HMEC	breast
7	chr14:41613600-41615200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:41613800-41614400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:41613800-41615000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:41614400-41616400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:41615000-41615200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:41615800-41616000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr14:41623000-41625400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:41623400-41623800	Weak transcription	Pancreas	Pancrea
15	chr14:41623400-41624000	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr14:41623400-41626000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:41623800-41624000	ZNF genes & repeats	Pancreas	Pancrea
18	chr14:41640200-41640600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:41640200-41640800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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