Variant report

Variant	esv3357141
Chromosome Location	chr5:89448185-89451071
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	chr5:89450263..89452091-chr5:89459803..89462765,2	K562	blood:

Extended variants
information (count: 122 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544495074	chr5:89448189-89448190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188008820	chr5:89448209-89448210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372460941	chr5:89448225-89448226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374013126	chr5:89448227-89448228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374504540	chr5:89448231-89448232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368927414	chr5:89448236-89448237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371365423	chr5:89448237-89448238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375974247	chr5:89448239-89448240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368955051	chr5:89448246-89448247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371510994	chr5:89448248-89448249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374987293	chr5:89448254-89448255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369449063	chr5:89448255-89448256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537462673	chr5:89448289-89448290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200647753	chr5:89448301-89448302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557291261	chr5:89448376-89448377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561777347	chr5:89448394-89448395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376127061	chr5:89448453-89448454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577871360	chr5:89448457-89448458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192098364	chr5:89448503-89448504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184595795	chr5:89448509-89448510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554026945	chr5:89448548-89448549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573790897	chr5:89448553-89448554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542822870	chr5:89448579-89448580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114884986	chr5:89448719-89448720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189457195	chr5:89448731-89448732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192918029	chr5:89448732-89448733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140875740	chr5:89448878-89448879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184138018	chr5:89448883-89448884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527684207	chr5:89448896-89448897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146328363	chr5:89448943-89448944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561602872	chr5:89448954-89448955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4916785	chr5:89448955-89448956	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs189413234	chr5:89448964-89448965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181052924	chr5:89449006-89449007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568619844	chr5:89449050-89449051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186162994	chr5:89449091-89449092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537499010	chr5:89449126-89449127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546062149	chr5:89449180-89449181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551057705	chr5:89449243-89449244	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs189449816	chr5:89449247-89449248	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs533768414	chr5:89449285-89449286	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs181407103	chr5:89449302-89449303	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs573852426	chr5:89449322-89449323	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs536468338	chr5:89449335-89449336	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs556357116	chr5:89449342-89449343	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs185891364	chr5:89449351-89449352	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs57330995	chr5:89449358-89449359	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs7707262	chr5:89449392-89449393	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs116342066	chr5:89449399-89449400	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs541384715	chr5:89449418-89449419	Enhancers Weak transcription Active TSS	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
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
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
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89443400-89457000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:89449000-89449600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:89449200-89449600	Active TSS	Spleen	Spleen

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