Variant report

Variant	esv3372610
Chromosome Location	chr5:178171746-178175944
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 190 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:190 , 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	rs571719471	chr5:178171775-178171776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34782819	chr5:178171782-178171783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs13359027	chr5:178171813-178171814	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs369788578	chr5:178171841-178171842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111846231	chr5:178171845-178171846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141816333	chr5:178171850-178171851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79771150	chr5:178171872-178171873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113049886	chr5:178171898-178171899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528283809	chr5:178171899-178171900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79708137	chr5:178171923-178171924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566187337	chr5:178172027-178172028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539895285	chr5:178172048-178172049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551820439	chr5:178172093-178172094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150195987	chr5:178172106-178172107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537380089	chr5:178172113-178172114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs59187120	chr5:178172115-178172116	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs574199779	chr5:178172121-178172122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149436966	chr5:178172126-178172127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553112960	chr5:178172137-178172138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191363844	chr5:178172138-178172139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552031163	chr5:178172140-178172141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369346211	chr5:178172171-178172172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147504533	chr5:178172188-178172189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34981103	chr5:178172255-178172256	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs60727421	chr5:178172257-178172258	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs554471720	chr5:178172270-178172271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183160206	chr5:178172284-178172285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561223313	chr5:178172296-178172297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140120286	chr5:178172303-178172304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546776971	chr5:178172334-178172335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187884207	chr5:178172349-178172350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368294553	chr5:178172364-178172365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533479075	chr5:178172373-178172374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112454749	chr5:178172388-178172389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570094092	chr5:178172391-178172392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6880560	chr5:178172400-178172401	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs6884775	chr5:178172406-178172407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs6859660	chr5:178172411-178172412	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs79957207	chr5:178172446-178172447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6898919	chr5:178172479-178172480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs553597070	chr5:178172497-178172498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60490559	chr5:178172513-178172514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374150611	chr5:178172522-178172523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs55771548	chr5:178172524-178172525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10066888	chr5:178172559-178172560	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs542615356	chr5:178172591-178172592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554220377	chr5:178172598-178172599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34216252	chr5:178172609-178172610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556720407	chr5:178172620-178172621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142488156	chr5:178172638-178172639	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:1 , 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

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