Variant report

Variant	esv18056
Chromosome Location	chr3:98726549-98736401
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	chr2:75887719..75888507-chr3:98736202..98737122,2	MCF-7	breast:

Extended variants
information (count: 412 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:412 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371615660	chr3:98726601-98726602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564085256	chr3:98726611-98726612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533153924	chr3:98726648-98726649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370791003	chr3:98726653-98726654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9917780	chr3:98726688-98726689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368155796	chr3:98726693-98726694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138562822	chr3:98726724-98726725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183471739	chr3:98726755-98726756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201279547	chr3:98726759-98726760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199756943	chr3:98726760-98726761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138679464	chr3:98726764-98726765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528841849	chr3:98726816-98726817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538739613	chr3:98726888-98726889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558588451	chr3:98726951-98726952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2449014	chr3:98727058-98727059	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs114587805	chr3:98727122-98727123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs72923016	chr3:98727136-98727137	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs374505488	chr3:98727191-98727192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534258630	chr3:98727214-98727215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs13079960	chr3:98727248-98727249	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs964163	chr3:98727253-98727254	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs551513689	chr3:98727281-98727282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1905017	chr3:98727299-98727300	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs1905016	chr3:98727384-98727385	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs188640117	chr3:98727404-98727405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1481633	chr3:98727425-98727426	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs535828114	chr3:98727484-98727485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149266322	chr3:98727513-98727514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572361040	chr3:98727514-98727515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1905015	chr3:98727536-98727537	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs564426634	chr3:98727548-98727549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376770202	chr3:98727591-98727592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191551172	chr3:98727618-98727619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543634699	chr3:98727633-98727634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144468500	chr3:98727664-98727665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2470829	chr3:98727668-98727669	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs185410540	chr3:98727713-98727714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558879339	chr3:98727715-98727716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2470843	chr3:98727739-98727740	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs2470830	chr3:98727805-98727806	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs148400927	chr3:98727810-98727811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142463104	chr3:98727816-98727817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550380023	chr3:98727817-98727818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570160140	chr3:98727847-98727848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565961100	chr3:98727855-98727856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2470831	chr3:98727885-98727886	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs72923020	chr3:98727928-98727929	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs377466276	chr3:98727953-98727954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371147480	chr3:98727984-98727985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376134214	chr3:98727993-98727994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98717200-98730600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:98717600-98729200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:98726400-98726600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:98726600-98740400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:98726800-98728000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr3:98728000-98728400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr3:98728200-98729000	Enhancers	K562	blood
8	chr3:98728400-98729000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr3:98730600-98730800	Enhancers	GM12878-XiMat	blood
10	chr3:98730600-98731400	Enhancers	HSMM	muscle
11	chr3:98730600-98732000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:98730800-98731200	Enhancers	Fetal Kidney	kidney
13	chr3:98730800-98731200	Flanking Active TSS	GM12878-XiMat	blood
14	chr3:98730800-98732200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:98731000-98731400	Enhancers	Primary B cells from peripheral blood	blood
16	chr3:98731200-98731800	Enhancers	GM12878-XiMat	blood
17	chr3:98731600-98732600	Enhancers	Placenta Amnion	Placenta Amnion
18	chr3:98736000-98737200	Weak transcription	Aorta	Aorta

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