Variant report

Variant	esv2763234
Chromosome Location	chr3:22133059-22161258
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:22130650..22131348-chr3:22159010..22159875,2	MCF-7	breast:
2	chr3:22115704..22118143-chr3:22137096..22138813,2	MCF-7	breast:
3	chr3:20381610..20382290-chr3:22159023..22159894,2	MCF-7	breast:
4	chr3:22127371..22129495-chr3:22135710..22137615,2	K562	blood:
5	chr3:22130685..22131408-chr3:22159081..22159858,3	MCF-7	breast:
6	chr3:21794398..21795153-chr3:22159350..22159975,2	MCF-7	breast:
7	chr3:20381603..20382455-chr3:22159036..22159808,2	K562	blood:

Extended variants
information (count: 1471 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1471 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548448881	chr3:22133064-22133065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571837030	chr3:22133070-22133071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs36109971	chr3:22133082-22133083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs397952221	chr3:22133091-22133092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569866281	chr3:22133092-22133093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538210656	chr3:22133100-22133101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75177945	chr3:22133165-22133166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571728971	chr3:22133172-22133173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539127191	chr3:22133174-22133175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187280007	chr3:22133180-22133181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191722991	chr3:22133205-22133206	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs542888090	chr3:22133208-22133209	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs76013177	chr3:22133213-22133214	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs185320027	chr3:22133230-22133231	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs543363420	chr3:22133241-22133242	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs375149837	chr3:22133244-22133245	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs75281806	chr3:22133262-22133263	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs2695636	chr3:22133265-22133266	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs367580260	chr3:22133287-22133288	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs190216476	chr3:22133296-22133297	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs576509735	chr3:22133305-22133306	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs140393647	chr3:22133335-22133336	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs372809730	chr3:22133400-22133401	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs182128465	chr3:22133434-22133435	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs548106314	chr3:22133440-22133441	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs563551366	chr3:22133452-22133453	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs185517778	chr3:22133492-22133493	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs17586688	chr3:22133500-22133501	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs563953559	chr3:22133514-22133515	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs532921390	chr3:22133529-22133530	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs1824973	chr3:22133551-22133552	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs75616276	chr3:22133559-22133560	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs1824972	chr3:22133560-22133561	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs566059136	chr3:22133579-22133580	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs536829634	chr3:22133586-22133587	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs554870041	chr3:22133604-22133605	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs576614906	chr3:22133611-22133612	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs1824971	chr3:22133616-22133617	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs558848183	chr3:22133618-22133619	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs548995749	chr3:22133631-22133632	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs576412724	chr3:22133641-22133642	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs55820548	chr3:22133654-22133655	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs540639158	chr3:22133662-22133663	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs55947541	chr3:22133696-22133697	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs574451319	chr3:22133704-22133705	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs188248690	chr3:22133767-22133768	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs563322330	chr3:22133770-22133771	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs113979005	chr3:22135039-22135040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187778891	chr3:22135055-22135056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190942697	chr3:22135056-22135057	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22132800-22133200	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr3:22133200-22133800	Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr3:22135000-22135400	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr3:22135400-22139600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr3:22138200-22139000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:22139000-22139800	Enhancers	Hela-S3	cervix
7	chr3:22139600-22139800	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr3:22139600-22140200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:22139600-22140200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:22142800-22144000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr3:22142800-22144000	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr3:22143400-22144000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:22144000-22146600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:22145600-22147000	Enhancers	Hela-S3	cervix
15	chr3:22147000-22147400	Flanking Active TSS	Hela-S3	cervix
16	chr3:22147000-22147800	Enhancers	Liver	Liver
17	chr3:22147400-22147600	Enhancers	Hela-S3	cervix
18	chr3:22147600-22148600	Flanking Active TSS	Hela-S3	cervix
19	chr3:22147800-22148200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr3:22147800-22148400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:22147800-22148400	Flanking Active TSS	Liver	Liver
22	chr3:22148000-22148400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:22148000-22148800	Enhancers	Placenta	Placenta
24	chr3:22148400-22148600	Enhancers	Liver	Liver
25	chr3:22148400-22152800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:22148600-22149600	Enhancers	Hela-S3	cervix
27	chr3:22152800-22153400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:22153200-22153400	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr3:22153200-22153600	Enhancers	Fetal Brain Male	brain
30	chr3:22153400-22153800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:22153400-22158400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:22153600-22157200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr3:22153800-22157800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:22154200-22154600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr3:22156000-22159000	Enhancers	Hela-S3	cervix
36	chr3:22156600-22157600	Enhancers	HUVEC	blood vessel
37	chr3:22157000-22158600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr3:22157200-22157400	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr3:22157400-22161800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr3:22157800-22158600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:22158400-22159000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:22158800-22159400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:22160000-22160200	Enhancers	Liver	Liver
44	chr3:22160200-22161600	Weak transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links