Variant report

Variant	nsv526149
Chromosome Location	chr5:104355383-104373380
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:104370391..104373072-chr5:104374539..104377725,3	K562	blood:
2	chr5:104369671..104371200-chr5:104727235..104729208,2	K562	blood:
3	chr5:104370391..104371902-chr5:104374539..104376562,2	K562	blood:
4	chr5:104369743..104372595-chr5:104912590..104914639,2	K562	blood:

Variant related genes	Relation type
ENSG00000251574	chromatin interactions

Extended variants
information (count: 88 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551173771	chr5:104369411-104369412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567724461	chr5:104369424-104369425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs80213085	chr5:104369447-104369448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs13168070	chr5:104369455-104369456	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs567169618	chr5:104369459-104369460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539076977	chr5:104369475-104369476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529169327	chr5:104369491-104369492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558639915	chr5:104369503-104369504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549198741	chr5:104369506-104369507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575697070	chr5:104369514-104369515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568940603	chr5:104369547-104369548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544354833	chr5:104369582-104369583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557137686	chr5:104369592-104369593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369630905	chr5:104369605-104369606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370273956	chr5:104369717-104369718	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs573791045	chr5:104369739-104369740	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs34567596	chr5:104369804-104369805	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs542393671	chr5:104369836-104369837	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs7709488	chr5:104369901-104369902	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs528326636	chr5:104369906-104369907	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs544604571	chr5:104369921-104369922	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs564695647	chr5:104369937-104369938	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs62366393	chr5:104369953-104369954	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs550436959	chr5:104369954-104369955	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs118109132	chr5:104369955-104369956	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs530364091	chr5:104369956-104369957	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs78189970	chr5:104369965-104369966	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs571686307	chr5:104369975-104369976	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs547207899	chr5:104369990-104369991	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs567181919	chr5:104369992-104369993	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs13185910	chr5:104370015-104370016	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs145869163	chr5:104370027-104370028	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs531771058	chr5:104370028-104370029	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs567997437	chr5:104370124-104370125	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs569126214	chr5:104370140-104370141	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs13168898	chr5:104370141-104370142	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs552575111	chr5:104370157-104370158	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs574590942	chr5:104370169-104370170	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs369789657	chr5:104370184-104370185	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs542422121	chr5:104370267-104370268	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs552701931	chr5:104370274-104370275	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs62366394	chr5:104370306-104370307	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs73777388	chr5:104370319-104370320	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs565170705	chr5:104370322-104370323	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs12518114	chr5:104370486-104370487	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs115934720	chr5:104370516-104370517	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs12518136	chr5:104370570-104370571	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs560862111	chr5:104370605-104370606	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs529774703	chr5:104370607-104370608	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs547219910	chr5:104370638-104370639	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	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
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Obesity	20622171	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104369400-104369800	Enhancers	K562	blood
2	chr5:104369400-104370000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr5:104369400-104370200	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr5:104369800-104370200	Flanking Active TSS	K562	blood
5	chr5:104370200-104370400	Enhancers	K562	blood
6	chr5:104370200-104370600	Enhancers	Hela-S3	cervix
7	chr5:104370400-104371600	Weak transcription	K562	blood

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