Variant report

Variant	esv3385241
Chromosome Location	chr14:41255251-41278108
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRFN5-6	chr14:41274653-41274721	NONHSAT036561
2	lnc-LRFN5-6	chr14:41277531-41277622	NONHSAT036561

Extended variants
information (count: 75 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542777358	chr14:41255282-41255283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549658116	chr14:41255284-41255285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10146171	chr14:41255285-41255286	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs573086991	chr14:41255287-41255288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540464677	chr14:41255303-41255304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376883123	chr14:41255308-41255309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150619280	chr14:41255310-41255311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185776400	chr14:41255339-41255340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532078546	chr14:41255343-41255344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550284004	chr14:41255351-41255352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35972583	chr14:41255390-41255391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs577419922	chr14:41264624-41264625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542732971	chr14:41264629-41264630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571021457	chr14:41264635-41264636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538552118	chr14:41264649-41264650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544676122	chr14:41264661-41264662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375011992	chr14:41264735-41264736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113152111	chr14:41264828-41264829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575303105	chr14:41264846-41264847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141246445	chr14:41264871-41264872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554659861	chr14:41264884-41264885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572905130	chr14:41264900-41264901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11846435	chr14:41264903-41264904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540020903	chr14:41264925-41264926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565112346	chr14:41264949-41264950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143749346	chr14:41265016-41265017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542607124	chr14:41265019-41265020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562373310	chr14:41265037-41265038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544088276	chr14:41265130-41265131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562480623	chr14:41265131-41265132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145056695	chr14:41265135-41265136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113506908	chr14:41265199-41265200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530030675	chr14:41265202-41265203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148148253	chr14:41265228-41265229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369228059	chr14:41265272-41265273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186816546	chr14:41265300-41265301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527800482	chr14:41265317-41265318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs72621020	chr14:41265333-41265334	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs190908718	chr14:41265379-41265380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538475309	chr14:41265431-41265432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556893809	chr14:41265444-41265445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568774413	chr14:41265460-41265461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527879110	chr14:41265469-41265470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536215655	chr14:41265471-41265472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554566723	chr14:41265488-41265489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376881475	chr14:41265491-41265492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183198098	chr14:41265492-41265493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542654255	chr14:41265500-41265501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558406098	chr14:41265525-41265526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576961393	chr14:41265526-41265527	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41254600-41255400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:41264600-41266200	Enhancers	Liver	Liver
3	chr14:41265400-41266200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr14:41265600-41266000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:41265600-41266000	Enhancers	HUES6 Cell Line	embryonic stem cell

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