Variant report

Variant	esv3388380
Chromosome Location	chr5:88605146-88608419
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	chr5:88598835..88601364-chr5:88608346..88610918,2	K562	blood:
2	chr5:88585073..88587618-chr5:88605196..88607687,2	K562	blood:

Extended variants
information (count: 189 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:189 , 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	rs1428510	chr5:88605148-88605149	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs377541625	chr5:88605149-88605150	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs60630038	chr5:88605160-88605161	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs57182539	chr5:88605161-88605162	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs532184034	chr5:88605167-88605168	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs552160571	chr5:88605181-88605182	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs147031076	chr5:88605186-88605187	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs534390856	chr5:88605221-88605222	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548644155	chr5:88605251-88605252	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs193239541	chr5:88605279-88605280	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111631839	chr5:88605319-88605320	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138332440	chr5:88605333-88605334	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556880564	chr5:88605380-88605381	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576687575	chr5:88605382-88605383	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545798870	chr5:88605437-88605438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541245760	chr5:88605460-88605461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs367661372	chr5:88605555-88605556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145570423	chr5:88605562-88605563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs59023694	chr5:88605575-88605576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs55990606	chr5:88605581-88605582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538549237	chr5:88605585-88605586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs70999432	chr5:88605596-88605597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552922661	chr5:88605627-88605628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10054413	chr5:88605629-88605630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs143852457	chr5:88605634-88605635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376714960	chr5:88605639-88605640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537572340	chr5:88605647-88605648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150633783	chr5:88605654-88605655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531057371	chr5:88605663-88605664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1318476	chr5:88605670-88605671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112746330	chr5:88605679-88605680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4020443	chr5:88605680-88605681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148891210	chr5:88605691-88605692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397784708	chr5:88605692-88605693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372911644	chr5:88605699-88605700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544781824	chr5:88605729-88605730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202207480	chr5:88605740-88605741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4020444	chr5:88605744-88605745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370636474	chr5:88605745-88605746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs202065861	chr5:88605748-88605749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59041786	chr5:88605749-88605750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2364898	chr5:88605751-88605752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2021396	chr5:88605753-88605754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs57771701	chr5:88605777-88605778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs3050529	chr5:88605778-88605779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540158202	chr5:88605790-88605791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188277699	chr5:88605806-88605807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553515749	chr5:88605807-88605808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200880534	chr5:88605820-88605821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533618478	chr5:88605853-88605854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Colorectal cancer	16774939	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:88599600-88608200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:88599600-88609600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr5:88604400-88605400	Enhancers	HMEC	breast
4	chr5:88604600-88605200	Enhancers	Primary B cells from cord blood	blood
5	chr5:88604600-88605400	Flanking Active TSS	GM12878-XiMat	blood
6	chr5:88604800-88609000	Weak transcription	K562	blood
7	chr5:88605000-88608800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr5:88605000-88608800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:88605000-88609600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:88605200-88609400	Weak transcription	Primary B cells from cord blood	blood
11	chr5:88605400-88607800	Weak transcription	GM12878-XiMat	blood
12	chr5:88605400-88608400	Weak transcription	HMEC	breast
13	chr5:88607800-88608800	Enhancers	GM12878-XiMat	blood
14	chr5:88608200-88609000	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr5:88608200-88611600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:88608400-88610000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr5:88608400-88611800	Enhancers	HMEC	breast
18	chr5:88608400-88611800	Enhancers	HSMM	muscle

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