Variant report

Variant	esv3451726
Chromosome Location	chr3:76075462-76079860
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	chr3:76077395..76079009-chr3:76080848..76082898,2	K562	blood:

Extended variants
information (count: 191 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:191 , 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	rs543860830	chr3:76075523-76075524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183119375	chr3:76075568-76075569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568995106	chr3:76075599-76075600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539370251	chr3:76075633-76075634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558003924	chr3:76075641-76075642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs207463225	chr3:76075684-76075685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142372654	chr3:76075714-76075715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533806081	chr3:76075750-76075751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574655731	chr3:76075755-76075756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555394192	chr3:76075774-76075775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540192487	chr3:76075803-76075804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573826694	chr3:76075820-76075821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559665594	chr3:76075879-76075880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186452093	chr3:76075904-76075905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116128970	chr3:76075957-76075958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35001430	chr3:76076009-76076010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190118242	chr3:76076015-76076016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371064542	chr3:76076024-76076025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs60924736	chr3:76076025-76076026	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs183119032	chr3:76076050-76076051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150078368	chr3:76076056-76076057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77458037	chr3:76076074-76076075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34739986	chr3:76076084-76076085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs57122541	chr3:76076110-76076111	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs148573660	chr3:76076130-76076131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528498124	chr3:76076134-76076135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561702347	chr3:76076141-76076142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529359431	chr3:76076148-76076149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545470453	chr3:76076173-76076174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138373038	chr3:76076186-76076187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149438286	chr3:76076194-76076195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565387730	chr3:76076241-76076242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533180617	chr3:76076294-76076295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187371374	chr3:76076347-76076348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144838274	chr3:76076353-76076354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534075669	chr3:76076356-76076357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552884159	chr3:76076436-76076437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12493274	chr3:76076453-76076454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs542060958	chr3:76076475-76076476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140092745	chr3:76076486-76076487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537955524	chr3:76076527-76076528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556193657	chr3:76076561-76076562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116647659	chr3:76076564-76076565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370738045	chr3:76076592-76076593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113649651	chr3:76076620-76076621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528513686	chr3:76076627-76076628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558057085	chr3:76076635-76076636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs80029745	chr3:76076656-76076657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540487068	chr3:76076675-76076676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34018787	chr3:76076700-76076701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:76074600-76075800	Enhancers	Muscle Satellite Cultured Cells	--
2	chr3:76074800-76076000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:76075200-76078000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:76075200-76078000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr3:76075200-76088000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:76075800-76076200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:76076200-76078000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:76077000-76084400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:76078000-76078200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:76078000-76078200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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