Variant report

Variant	esv3365133
Chromosome Location	chr5:104092153-104095451
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	chr5:104091669..104093962-chr5:104097846..104099466,2	MCF-7	breast:
2	chr5:104086946..104088891-chr5:104090048..104092847,2	MCF-7	breast:

Extended variants
information (count: 149 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564043452	chr5:104092154-104092155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs151213067	chr5:104092233-104092234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562342442	chr5:104092269-104092270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549409559	chr5:104092348-104092349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569720380	chr5:104092374-104092375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531290987	chr5:104092375-104092376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535228459	chr5:104092421-104092422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551100154	chr5:104092433-104092434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188133040	chr5:104092436-104092437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531877493	chr5:104092441-104092442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35481953	chr5:104092454-104092455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs193070309	chr5:104092464-104092465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558485913	chr5:104092465-104092466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140405759	chr5:104092470-104092471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185263416	chr5:104092510-104092511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs59219542	chr5:104092531-104092532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs397787663	chr5:104092532-104092533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12518236	chr5:104092550-104092551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551039309	chr5:104092557-104092558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35662446	chr5:104092558-104092559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542720505	chr5:104092564-104092565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559807136	chr5:104092575-104092576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs36059836	chr5:104092603-104092604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572099426	chr5:104092646-104092647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566522347	chr5:104092661-104092662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547171352	chr5:104092665-104092666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533749782	chr5:104092685-104092686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571141262	chr5:104092692-104092693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564032865	chr5:104092693-104092694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150338137	chr5:104092726-104092727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565887770	chr5:104092766-104092767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539222511	chr5:104092767-104092768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557845824	chr5:104092769-104092770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs67161570	chr5:104092770-104092771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199753652	chr5:104092772-104092773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199528951	chr5:104092774-104092775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs67445005	chr5:104092780-104092781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs161643	chr5:104092792-104092793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs161644	chr5:104092800-104092801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79573956	chr5:104092812-104092813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11951170	chr5:104092818-104092819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566451552	chr5:104092841-104092842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577722844	chr5:104092852-104092853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552036061	chr5:104092855-104092856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188929223	chr5:104092911-104092912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537711567	chr5:104092936-104092937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs324347	chr5:104092939-104092940	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
48	rs567513252	chr5:104092942-104092943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536654238	chr5:104092943-104092944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192556526	chr5:104092966-104092967	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
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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104091200-104092600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr5:104091400-104095000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:104095000-104095800	Enhancers	HUES64 Cell Line	embryonic stem cell

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