Variant report

Variant	esv3354577
Chromosome Location	chr5:178173046-178177244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF354A-2	chr5:178176203-178176293	NONHSAT105546

Extended variants
information (count: 174 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370745152	chr5:178173114-178173115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557090931	chr5:178173141-178173142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568935366	chr5:178173177-178173178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535938199	chr5:178173217-178173218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117268913	chr5:178173221-178173222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184264953	chr5:178173222-178173223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188209532	chr5:178173272-178173273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565416122	chr5:178173275-178173276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs180999158	chr5:178173299-178173300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577149540	chr5:178173318-178173319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374865031	chr5:178173324-178173325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186415418	chr5:178173351-178173352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368398516	chr5:178173359-178173360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370955856	chr5:178173445-178173446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62393866	chr5:178173454-178173455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6600947	chr5:178173467-178173468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs551027915	chr5:178173478-178173479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9329051	chr5:178173527-178173528	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs9329052	chr5:178173550-178173551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528461898	chr5:178173617-178173618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143223321	chr5:178173634-178173635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530064764	chr5:178173644-178173645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571614505	chr5:178173716-178173717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112773912	chr5:178173728-178173729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199622110	chr5:178173731-178173732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs397518203	chr5:178173732-178173733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371525626	chr5:178173733-178173734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs57065173	chr5:178173741-178173742	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs200126435	chr5:178173743-178173744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569316442	chr5:178173745-178173746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536380444	chr5:178173752-178173753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547954582	chr5:178173754-178173755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148306114	chr5:178173782-178173783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542774086	chr5:178173801-178173802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533761798	chr5:178173807-178173808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141567483	chr5:178173811-178173812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577213913	chr5:178173813-178173814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573442273	chr5:178173820-178173821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538112503	chr5:178173833-178173834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536769867	chr5:178173835-178173836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147124317	chr5:178173871-178173872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573563631	chr5:178173893-178173894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531157381	chr5:178173897-178173898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543138639	chr5:178173902-178173903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111542716	chr5:178173903-178173904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371865861	chr5:178173948-178173949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572957383	chr5:178173976-178173977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143941282	chr5:178174050-178174051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7730430	chr5:178174063-178174064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs113921311	chr5:178174109-178174110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	21990379	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178166600-178224000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:178176400-178177000	Enhancers	Placenta Amnion	Placenta Amnion
3	chr5:178177000-178177600	Weak transcription	Placenta Amnion	Placenta Amnion

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