Variant report

Variant	nsv983943
Chromosome Location	chr14:42051228-42056699
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXO33-7	chr14:42051919-42052035	NONHSAT036574
2	lnc-LRFN5-3	chr14:42054141-42054686	NONHSAT036573
3	lnc-LRFN5-3	chr14:42051729-42051779	NONHSAT036573

Extended variants
information (count: 109 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79089508	chr14:42051228-42051229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187344944	chr14:42051259-42051260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190257952	chr14:42051278-42051279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371774485	chr14:42051283-42051284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565701994	chr14:42051355-42051356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369367345	chr14:42051369-42051370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114843493	chr14:42051370-42051371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530870184	chr14:42051423-42051424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183111906	chr14:42051458-42051459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541283742	chr14:42051560-42051561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188442078	chr14:42051576-42051577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556823208	chr14:42051580-42051581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs193056848	chr14:42051607-42051608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545559061	chr14:42051641-42051642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146097629	chr14:42051652-42051653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531423491	chr14:42051682-42051683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576697772	chr14:42051697-42051698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561677464	chr14:42051720-42051721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528918605	chr14:42051727-42051728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11157240	chr14:42051747-42051748	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs565964000	chr14:42051749-42051750	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs539772528	chr14:42051750-42051751	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs551552237	chr14:42051754-42051755	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs139725033	chr14:42051765-42051766	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs11157241	chr14:42051771-42051772	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs537512625	chr14:42051777-42051778	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs555584905	chr14:42051783-42051784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573673521	chr14:42051788-42051789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534715242	chr14:42051822-42051823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552975921	chr14:42051827-42051828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577912260	chr14:42051839-42051840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545414521	chr14:42051844-42051845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563863178	chr14:42051845-42051846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575751829	chr14:42051863-42051864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185659974	chr14:42051916-42051917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188988061	chr14:42051917-42051918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573196699	chr14:42052099-42052100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529032914	chr14:42052110-42052111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4356390	chr14:42052115-42052116	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs559439971	chr14:42052138-42052139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374460086	chr14:42052172-42052173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551396561	chr14:42052257-42052258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562067786	chr14:42052323-42052324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377670765	chr14:42052334-42052335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149085474	chr14:42052364-42052365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549425378	chr14:42052384-42052385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191440222	chr14:42052394-42052395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183612931	chr14:42052441-42052442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552939036	chr14:42052488-42052489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369548208	chr14:42052493-42052494	Weak transcription	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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42051000-42053200	Weak transcription	Fetal Lung	lung
2	chr14:42053200-42053600	Enhancers	Fetal Lung	lung
3	chr14:42055200-42055600	Enhancers	Fetal Intestine Large	intestine
4	chr14:42056600-42059400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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