Variant report

Variant	esv3365121
Chromosome Location	chr5:119048353-119052551
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	chr5:119042499..119044624-chr5:119047745..119049345,2	K562	blood:

Extended variants
information (count: 175 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:175 , 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	rs162607	chr5:119048423-119048424	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150428293	chr5:119048544-119048545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574636284	chr5:119048558-119048559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373851164	chr5:119048579-119048580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537354885	chr5:119048584-119048585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557261375	chr5:119048601-119048602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544594741	chr5:119048604-119048605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576786333	chr5:119048612-119048613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375867605	chr5:119048626-119048627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545814280	chr5:119048629-119048630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559070898	chr5:119048644-119048645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572935291	chr5:119048645-119048646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576353079	chr5:119048695-119048696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2431177	chr5:119048722-119048723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541521062	chr5:119048750-119048751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570626941	chr5:119048751-119048752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561149602	chr5:119048806-119048807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10519606	chr5:119048816-119048817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs138218948	chr5:119048897-119048898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550082478	chr5:119048919-119048920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140965863	chr5:119048936-119048937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532678904	chr5:119048950-119048951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552579884	chr5:119048953-119048954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187808971	chr5:119048960-119048961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115580033	chr5:119048963-119048964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148471000	chr5:119049012-119049013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564968649	chr5:119049080-119049081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548658756	chr5:119049101-119049102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532692802	chr5:119049139-119049140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116274443	chr5:119049205-119049206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201426693	chr5:119049209-119049210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112681104	chr5:119049214-119049215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142146828	chr5:119049215-119049216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs3219920	chr5:119049217-119049218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201242159	chr5:119049220-119049221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374279864	chr5:119049242-119049243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368745724	chr5:119049244-119049245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs397705154	chr5:119049247-119049248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183687248	chr5:119049250-119049251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540970972	chr5:119049278-119049279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537217839	chr5:119049291-119049292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75577659	chr5:119049295-119049296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577103523	chr5:119049317-119049318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188554516	chr5:119049340-119049341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559498076	chr5:119049360-119049361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529856185	chr5:119049384-119049385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs259194	chr5:119049387-119049388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572460316	chr5:119049403-119049404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541539949	chr5:119049415-119049416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78034140	chr5:119049445-119049446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119047200-119058800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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