Variant report

Variant	nsv826944
Chromosome Location	chr14:47785322-47799846
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPL10L-3	chr14:47798814-47799743	l_980_chr14:47772660-47799743_76bGuttman_hES

Extended variants
information (count: 219 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:219 , 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	rs73251831	chr14:47790012-47790013	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531662188	chr14:47790026-47790027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140886872	chr14:47790077-47790078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs8016873	chr14:47790090-47790091	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs527900961	chr14:47790097-47790098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547661200	chr14:47790111-47790112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73251833	chr14:47790134-47790135	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs191711445	chr14:47790140-47790141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551930014	chr14:47790147-47790148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561488986	chr14:47790158-47790159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568836285	chr14:47790159-47790160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184221457	chr14:47790174-47790175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554729488	chr14:47790190-47790191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs61993088	chr14:47790209-47790210	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs534014597	chr14:47790217-47790218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550445467	chr14:47790242-47790243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577112189	chr14:47790314-47790315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374873807	chr14:47790349-47790350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546081750	chr14:47790392-47790393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143042086	chr14:47790394-47790395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576399670	chr14:47790397-47790398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148199263	chr14:47790491-47790492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561873218	chr14:47790521-47790522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527862093	chr14:47790534-47790535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34762381	chr14:47790580-47790581	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs564435689	chr14:47790593-47790594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575266874	chr14:47790597-47790598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533410410	chr14:47790644-47790645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141132250	chr14:47790652-47790653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568733922	chr14:47790724-47790725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113026424	chr14:47790733-47790734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150906488	chr14:47790751-47790752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568204739	chr14:47790822-47790823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188948603	chr14:47790824-47790825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533973197	chr14:47790835-47790836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181726500	chr14:47790867-47790868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570636482	chr14:47790922-47790923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539320211	chr14:47790991-47790992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77766400	chr14:47791101-47791102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576336075	chr14:47791131-47791132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187213805	chr14:47791196-47791197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555430128	chr14:47791200-47791201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572251335	chr14:47791234-47791235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539882706	chr14:47791257-47791258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190343763	chr14:47791263-47791264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138511073	chr14:47791269-47791270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375835702	chr14:47791301-47791302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75057466	chr14:47791319-47791320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112370678	chr14:47791335-47791336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564045053	chr14:47791372-47791373	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21785460	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
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastric cancer	18160780	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47790000-47790800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:47790400-47790800	Enhancers	H1 Cell Line	embryonic stem cell
3	chr14:47790600-47791000	Enhancers	Brain Germinal Matrix	brain
4	chr14:47790600-47791200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr14:47791200-47792000	Enhancers	Fetal Lung	lung
6	chr14:47795800-47797400	Enhancers	Fetal Brain Male	brain
7	chr14:47796400-47797600	Enhancers	Fetal Brain Female	brain
8	chr14:47797400-47804000	Weak transcription	Fetal Brain Male	brain
9	chr14:47797600-47798600	Weak transcription	Fetal Brain Female	brain
10	chr14:47798600-47798800	Enhancers	Fetal Brain Female	brain

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