Variant report

Variant	esv2636779
Chromosome Location	chr9:72555772-72557251
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	chr9:72552090..72553965-chr9:72554095..72555858,2	K562	blood:
2	chr9:72554296..72556311-chr9:72558075..72560208,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538321828	chr9:72555802-72555803	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs556106755	chr9:72555805-72555806	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs185538052	chr9:72555809-72555810	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs545331450	chr9:72555816-72555817	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs113239215	chr9:72555828-72555829	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs560369469	chr9:72555920-72555921	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs10868291	chr9:72555964-72555965	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs572364975	chr9:72556046-72556047	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs542682089	chr9:72556060-72556061	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs545847624	chr9:72556069-72556070	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs560922429	chr9:72556079-72556080	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs531331846	chr9:72556080-72556081	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs73442682	chr9:72556092-72556093	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs35132428	chr9:72556115-72556116	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs142455653	chr9:72556157-72556158	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs533531746	chr9:72556180-72556181	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs551663379	chr9:72556241-72556242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566869729	chr9:72556271-72556272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs151310647	chr9:72556290-72556291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549001419	chr9:72556378-72556379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182209902	chr9:72556461-72556462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140539664	chr9:72556468-72556469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34924165	chr9:72556484-72556485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556578709	chr9:72556488-72556489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111262687	chr9:72556507-72556508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538883462	chr9:72556545-72556546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553997603	chr9:72556549-72556550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144372913	chr9:72556553-72556554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542919277	chr9:72556574-72556575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530812783	chr9:72556582-72556583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146458824	chr9:72556609-72556610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548827725	chr9:72556623-72556624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543165676	chr9:72556699-72556700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564951132	chr9:72556701-72556702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550823420	chr9:72556723-72556724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4744579	chr9:72556735-72556736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532075174	chr9:72556736-72556737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28799079	chr9:72556751-72556752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs560299573	chr9:72556773-72556774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79711454	chr9:72556808-72556809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549230310	chr9:72556811-72556812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531148993	chr9:72556814-72556815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187567054	chr9:72556827-72556828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374928566	chr9:72556828-72556829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531685046	chr9:72556829-72556830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs55833239	chr9:72556837-72556838	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs571750308	chr9:72556888-72556889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539117073	chr9:72556889-72556890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116648101	chr9:72556921-72556922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565848394	chr9:72556954-72556955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Intellectual disability	21811512	CNVD
Autism	21484199	CNVD
Breast cancer	22737080	CNVD
Malignant peripheral nerve sheath tumor	22811580	CNVD
Leprosy	22719964	CNVD
Primary ovarian insufficiency	22879975	CNVD
Malignant melanoma	17260012	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72552800-72558200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:72553200-72558400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr9:72553600-72558000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:72555000-72555800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr9:72555000-72556200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr9:72555800-72556200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr9:72556200-72556400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr9:72556200-72556400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr9:72556400-72559800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr9:72556400-72559800	Weak transcription	Monocytes-CD14+_RO01746	blood

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