Variant report

Variant	esv274987
Chromosome Location	chr5:154487590-154489402
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	chr5:154485065..154487069-chr5:154488163..154490065,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10039301	chr5:154487590-154487591	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552518591	chr5:154487596-154487597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570401780	chr5:154487608-154487609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549296774	chr5:154487763-154487764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10454998	chr5:154487768-154487769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs139413640	chr5:154487827-154487828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557874875	chr5:154487835-154487836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184315108	chr5:154487840-154487841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537169574	chr5:154487848-154487849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs961812	chr5:154487871-154487872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs573930885	chr5:154487909-154487910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188496693	chr5:154487912-154487913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140463631	chr5:154487921-154487922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181672641	chr5:154487932-154487933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186600430	chr5:154487953-154487954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545644539	chr5:154487971-154487972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9324804	chr5:154487974-154487975	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs532931020	chr5:154488023-154488024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543572652	chr5:154488024-154488025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190181989	chr5:154488034-154488035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529144670	chr5:154488035-154488036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9324805	chr5:154488081-154488082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs572321436	chr5:154488132-154488133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559455231	chr5:154488168-154488169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145174894	chr5:154488202-154488203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182241550	chr5:154488235-154488236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571333376	chr5:154488236-154488237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537032129	chr5:154488317-154488318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187381629	chr5:154488332-154488333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567418825	chr5:154488377-154488378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536703855	chr5:154488381-154488382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77477857	chr5:154488391-154488392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553301362	chr5:154488394-154488395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375770894	chr5:154488400-154488401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189883533	chr5:154488408-154488409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538986136	chr5:154488477-154488478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559274083	chr5:154488484-154488485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1946480	chr5:154488514-154488515	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs76107064	chr5:154488523-154488524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182064942	chr5:154488532-154488533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375275045	chr5:154488597-154488598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542670742	chr5:154488641-154488642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117466544	chr5:154488651-154488652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559267209	chr5:154488749-154488750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546059647	chr5:154488779-154488780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528265870	chr5:154488781-154488782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551295494	chr5:154488849-154488850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564827767	chr5:154488852-154488853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530859580	chr5:154488878-154488879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550565004	chr5:154488911-154488912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	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
Breast cancer	21858162	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
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	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
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
Myelofibrosis	22110671	CNVD
Deafness	19353646	CNVD
Developmental delay	19353646	CNVD
dysmorphism	19353646	CNVD
feeding difficulties	19353646	CNVD
strabismus	19353646	CNVD
Gastric adenocarcinoma	19115996	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Epilepsy	20502679	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154486800-154489800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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