Variant report

Variant	esv3412261
Chromosome Location	chr5:111934895-111936251
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	chr5:111930631..111932232-chr5:111935331..111936839,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114444876	chr5:111934899-111934900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533268781	chr5:111934908-111934909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551659133	chr5:111934939-111934940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550240046	chr5:111934941-111934942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6594636	chr5:111934952-111934953	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs180849753	chr5:111934957-111934958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115993151	chr5:111934998-111934999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550198637	chr5:111935019-111935020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77326930	chr5:111935020-111935021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557294434	chr5:111935027-111935028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs80267340	chr5:111935071-111935072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116801913	chr5:111935075-111935076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141643293	chr5:111935110-111935111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372209024	chr5:111935124-111935125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573200220	chr5:111935127-111935128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539879771	chr5:111935146-111935147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555307518	chr5:111935147-111935148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566913305	chr5:111935148-111935149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376691532	chr5:111935150-111935151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536691182	chr5:111935158-111935159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573673302	chr5:111935165-111935166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114955003	chr5:111935192-111935193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146205290	chr5:111935218-111935219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6594637	chr5:111935219-111935220	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs187407136	chr5:111935222-111935223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149518831	chr5:111935233-111935234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370236371	chr5:111935234-111935235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144011929	chr5:111935237-111935238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563476460	chr5:111935259-111935260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114999469	chr5:111935280-111935281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192189251	chr5:111935305-111935306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6594638	chr5:111935306-111935307	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs114537487	chr5:111935339-111935340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4957656	chr5:111935341-111935342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539693623	chr5:111935349-111935350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115179965	chr5:111935366-111935367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114074446	chr5:111935375-111935376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534476670	chr5:111935429-111935430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555068283	chr5:111935474-111935475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573536831	chr5:111935528-111935529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537432693	chr5:111935554-111935555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556340809	chr5:111935593-111935594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577790129	chr5:111935616-111935617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545257177	chr5:111935622-111935623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6891162	chr5:111935667-111935668	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs536482972	chr5:111935676-111935677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148702500	chr5:111935694-111935695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6869830	chr5:111935714-111935715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs561951228	chr5:111935724-111935725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142215421	chr5:111935729-111935730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
Retinoblastoma	22278416	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
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111930200-111935400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr5:111930800-111940000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr5:111931400-111940000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:111935400-111939000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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