Variant report

Variant	esv2760936
Chromosome Location	chr5:60555229-60556337
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:60555601..60558433-chr5:60563419..60566177,2	K562	blood:
2	chr5:60554941..60557365-chr5:60625053..60627690,3	MCF-7	breast:
3	chr5:60549933..60553711-chr5:60556075..60559631,4	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10939888	chr5:60555264-60555265	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs528419345	chr5:60555296-60555297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78352823	chr5:60555311-60555312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375700927	chr5:60555315-60555316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567674259	chr5:60555383-60555384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4379148	chr5:60555388-60555389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs566401486	chr5:60555395-60555396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376498123	chr5:60555406-60555407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183635078	chr5:60555408-60555409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539624243	chr5:60555410-60555411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185749688	chr5:60555427-60555428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573373811	chr5:60555458-60555459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114485363	chr5:60555469-60555470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146089048	chr5:60555488-60555489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556098173	chr5:60555502-60555503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7729746	chr5:60555530-60555531	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs544658780	chr5:60555533-60555534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76962958	chr5:60555550-60555551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564566026	chr5:60555555-60555556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567943252	chr5:60555556-60555557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190068554	chr5:60555569-60555570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116209869	chr5:60555570-60555571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148700229	chr5:60555581-60555582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537132394	chr5:60555582-60555583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144496116	chr5:60555616-60555617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555446740	chr5:60555639-60555640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550190350	chr5:60555658-60555659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570438991	chr5:60555680-60555681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550520800	chr5:60555698-60555699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570301326	chr5:60555699-60555700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397787324	chr5:60555707-60555708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs398093423	chr5:60555708-60555709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539486327	chr5:60555732-60555733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182373788	chr5:60555760-60555761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536988970	chr5:60555794-60555795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201595044	chr5:60555812-60555813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556083840	chr5:60555819-60555820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576054358	chr5:60555830-60555831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75407736	chr5:60555838-60555839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558217211	chr5:60555854-60555855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577971566	chr5:60555858-60555859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540676862	chr5:60555867-60555868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75063066	chr5:60555871-60555872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4540126	chr5:60555922-60555923	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs541669565	chr5:60555953-60555954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561629856	chr5:60555978-60555979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147411331	chr5:60555983-60555984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7730425	chr5:60556043-60556044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs564083521	chr5:60556054-60556055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533087559	chr5:60556063-60556064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60550400-60573400	Weak transcription	Gastric	stomach
2	chr5:60552600-60557600	Weak transcription	Right Atrium	heart
3	chr5:60553000-60557600	Weak transcription	Stomach Mucosa	stomach
4	chr5:60553800-60557400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:60555200-60555800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:60555800-60556000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:60556000-60557600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:60556000-60570200	Weak transcription	HSMM	muscle

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