Variant report

Variant	esv3501082
Chromosome Location	chr3:20374273-20377031
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:20368039..20370603-chr3:20372170..20374733,2	K562	blood:
2	chr3:20375934..20377835-chr3:20379796..20382067,2	MCF-7	breast:
3	chr3:20370553..20372483-chr3:20373507..20376475,2	K562	blood:

Extended variants
information (count: 109 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114506626	chr3:20374280-20374281	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78516234	chr3:20374313-20374314	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77463090	chr3:20374314-20374315	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78560520	chr3:20374315-20374316	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74970867	chr3:20374316-20374317	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs193275492	chr3:20374326-20374327	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568839471	chr3:20374360-20374361	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184172693	chr3:20374389-20374390	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572850077	chr3:20374460-20374461	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187908004	chr3:20374474-20374475	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561654962	chr3:20374508-20374509	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191500821	chr3:20374514-20374515	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184164137	chr3:20374540-20374541	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368221500	chr3:20374552-20374553	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188913363	chr3:20374560-20374561	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142064655	chr3:20374566-20374567	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551341589	chr3:20374597-20374598	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115171278	chr3:20374621-20374622	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145826736	chr3:20374628-20374629	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554721578	chr3:20374640-20374641	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200948775	chr3:20374713-20374714	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192247408	chr3:20374748-20374749	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549368332	chr3:20374808-20374809	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184404085	chr3:20374852-20374853	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373957293	chr3:20374862-20374863	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6784144	chr3:20374929-20374930	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138389051	chr3:20374937-20374938	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567400682	chr3:20374975-20374976	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534216270	chr3:20375013-20375014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571590952	chr3:20375028-20375029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539248293	chr3:20375029-20375030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34255613	chr3:20375035-20375036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs397937335	chr3:20375036-20375037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs386659096	chr3:20375037-20375038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202188844	chr3:20375038-20375039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34341888	chr3:20375039-20375040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75192512	chr3:20375042-20375043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536320065	chr3:20375084-20375085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6550499	chr3:20375087-20375088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199973263	chr3:20375126-20375127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190238275	chr3:20375163-20375164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573647931	chr3:20375165-20375166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11915718	chr3:20375219-20375220	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs149237394	chr3:20375247-20375248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7629900	chr3:20375260-20375261	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs545229856	chr3:20375284-20375285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558982027	chr3:20375301-20375302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9853103	chr3:20375305-20375306	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs148372663	chr3:20375320-20375321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6784588	chr3:20375345-20375346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20354000-20381800	Weak transcription	Aorta	Aorta
2	chr3:20373400-20376600	Weak transcription	K562	blood
3	chr3:20374000-20374400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:20374200-20374400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr3:20374400-20374600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:20374600-20374800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:20374600-20374800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr3:20374800-20375000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:20375000-20377000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:20376400-20376600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr3:20376600-20378400	Enhancers	K562	blood
12	chr3:20376600-20380200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr3:20377000-20377400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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