Variant report

Variant	nsv499713
Chromosome Location	chr14:24442048-24442546
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 62 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186927255	chr14:24442048-24442049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529986866	chr14:24442050-24442051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546597510	chr14:24442051-24442052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535020907	chr14:24442053-24442054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558243769	chr14:24442060-24442061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571761352	chr14:24442061-24442062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116145804	chr14:24442070-24442071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557507553	chr14:24442094-24442095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10135953	chr14:24442099-24442100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191340808	chr14:24442104-24442105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573915240	chr14:24442108-24442109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536916654	chr14:24442126-24442127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373765809	chr14:24442135-24442136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201271490	chr14:24442140-24442141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558757715	chr14:24442142-24442143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544612463	chr14:24442157-24442158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183525297	chr14:24442160-24442161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143710783	chr14:24442161-24442162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544011309	chr14:24442188-24442189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188781088	chr14:24442205-24442206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs193212528	chr14:24442214-24442215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534919378	chr14:24442226-24442227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560467994	chr14:24442244-24442245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202220074	chr14:24442255-24442256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371598986	chr14:24442256-24442257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547199483	chr14:24442260-24442261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10151167	chr14:24442273-24442274	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs201174206	chr14:24442276-24442277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76125687	chr14:24442282-24442283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140512674	chr14:24442303-24442304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536446976	chr14:24442313-24442314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150414372	chr14:24442321-24442322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190416515	chr14:24442326-24442327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538991233	chr14:24442339-24442340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138081005	chr14:24442346-24442347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575148555	chr14:24442357-24442358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544269821	chr14:24442371-24442372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200365141	chr14:24442380-24442381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574534774	chr14:24442386-24442387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540420598	chr14:24442436-24442437	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs560435812	chr14:24442443-24442444	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs113338230	chr14:24442451-24442452	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs552533026	chr14:24442460-24442461	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs529401826	chr14:24442499-24442500	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs565248691	chr14:24442507-24442508	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs201153816	chr14:24442511-24442512	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs530832436	chr14:24442518-24442519	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs551003606	chr14:24442524-24442525	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs567660878	chr14:24442545-24442546	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs149121772	chr14:24442546-24442547	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	21390271	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24424000-24458000	Weak transcription	Primary T cells from cord blood	blood
2	chr14:24439400-24446400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:24439400-24450000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr14:24439400-24451000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr14:24439400-24451200	Weak transcription	Pancreas	Pancrea
6	chr14:24439400-24457600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr14:24440000-24453600	Weak transcription	Dnd41	blood
8	chr14:24440200-24442400	Weak transcription	HepG2	liver
9	chr14:24442400-24442600	Enhancers	HepG2	liver
10	chr14:24442400-24442800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:24442400-24442800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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