Variant report

Variant	nsv977411
Chromosome Location	chr14:44933567-44946184
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:17231477..17232007-chr14:44939008..44939528,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FSCB-1	chr14:44936161-44936372	ENSG00000258487
2	lnc-FSCB-1	chr14:44936162-44936372	XLOC_011007
3	lnc-FSCB-1	chr14:44936293-44936372	XLOC_011007

Extended variants
information (count: 38 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536363525	chr14:44936247-44936248	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs112698382	chr14:44936317-44936318	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs566729079	chr14:44936327-44936328	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs542205425	chr14:44937600-44937601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371800096	chr14:44937607-44937608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560245096	chr14:44937633-44937634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527793638	chr14:44937641-44937642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552222726	chr14:44937654-44937655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs59208290	chr14:44937679-44937680	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs544475367	chr14:44937712-44937713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182153652	chr14:44937725-44937726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568732645	chr14:44937729-44937730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564454264	chr14:44937748-44937749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs59929076	chr14:44937807-44937808	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs75456769	chr14:44937826-44937827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187836574	chr14:44937868-44937869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539561473	chr14:44937929-44937930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557840717	chr14:44938012-44938013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs61109430	chr14:44938070-44938071	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs78445473	chr14:44938090-44938091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555423383	chr14:44938109-44938110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547676562	chr14:44938136-44938137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs151262389	chr14:44938156-44938157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79877974	chr14:44938197-44938198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79331529	chr14:44938203-44938204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140504062	chr14:44938209-44938210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539592607	chr14:44938218-44938219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545899723	chr14:44938221-44938222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144184161	chr14:44938235-44938236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568561316	chr14:44938262-44938263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192356435	chr14:44938263-44938264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550325224	chr14:44938276-44938277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562278231	chr14:44938304-44938305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs80070947	chr14:44938309-44938310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77311743	chr14:44938340-44938341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571454372	chr14:44938342-44938343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs56934755	chr14:44938389-44938390	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs184368041	chr14:44938392-44938393	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	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
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44937600-44938400	Enhancers	Fetal Intestine Large	intestine

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