Variant report

Variant	esv3444064
Chromosome Location	chr3:110679162-110683960
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 155 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189120891	chr3:110679173-110679174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181098307	chr3:110679236-110679237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186658849	chr3:110679249-110679250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539282433	chr3:110679268-110679269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561464311	chr3:110679295-110679296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189040341	chr3:110679310-110679311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs180837342	chr3:110679311-110679312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1462790	chr3:110679312-110679313	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs138349597	chr3:110679335-110679336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72934066	chr3:110679535-110679536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565760927	chr3:110679564-110679565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532192106	chr3:110679604-110679605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572601921	chr3:110679610-110679611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6784053	chr3:110679627-110679628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536970748	chr3:110679664-110679665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186067903	chr3:110679691-110679692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142840133	chr3:110679757-110679758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545689879	chr3:110679788-110679789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375459709	chr3:110679830-110679831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150626365	chr3:110679859-110679860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554631145	chr3:110679877-110679878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556890555	chr3:110679912-110679913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576416072	chr3:110679954-110679955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190881627	chr3:110679980-110679981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183274217	chr3:110679987-110679988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543529194	chr3:110680005-110680006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1580287	chr3:110680014-110680015	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs572196008	chr3:110680038-110680039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541036286	chr3:110680051-110680052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs199627016	chr3:110680108-110680109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561290403	chr3:110680138-110680139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371789285	chr3:110680336-110680337	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574397272	chr3:110680337-110680338	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114143820	chr3:110680347-110680348	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565083112	chr3:110680390-110680391	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185681630	chr3:110680396-110680397	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190580832	chr3:110680426-110680427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565286258	chr3:110680432-110680433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576618500	chr3:110680462-110680463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182826806	chr3:110680472-110680473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188194120	chr3:110680493-110680494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192757690	chr3:110680621-110680622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182830100	chr3:110680632-110680633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536624414	chr3:110680648-110680649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557248099	chr3:110680698-110680699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576722369	chr3:110680716-110680717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186940339	chr3:110680728-110680729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552708264	chr3:110680749-110680750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572210039	chr3:110680753-110680754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144847506	chr3:110680831-110680832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110670400-110682400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:110674800-110684600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:110678800-110680600	Enhancers	Dnd41	blood
4	chr3:110680200-110680400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:110680400-110683000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:110682400-110683000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:110683000-110683600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:110683000-110683800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:110683000-110684000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:110683000-110684200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr3:110683200-110684400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:110683400-110684200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr3:110683400-110684600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr3:110683600-110684200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:110683800-110703000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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