Variant report

Variant	esv3407893
Chromosome Location	chr3:154780208-154782456
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 51 )

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	rs79183877	chr3:154780228-154780229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547166742	chr3:154780232-154780233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559024421	chr3:154780234-154780235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529700057	chr3:154780278-154780279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547798369	chr3:154780354-154780355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115116800	chr3:154780418-154780419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140008775	chr3:154780539-154780540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145446046	chr3:154780563-154780564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570713819	chr3:154780592-154780593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147835044	chr3:154780593-154780594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553158979	chr3:154780611-154780612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191687291	chr3:154780622-154780623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373804106	chr3:154780623-154780624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562141616	chr3:154780675-154780676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557414042	chr3:154780717-154780718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148866212	chr3:154780718-154780719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs367692598	chr3:154780723-154780724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529675538	chr3:154780748-154780749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546165252	chr3:154780749-154780750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6778554	chr3:154780786-154780787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573436285	chr3:154780787-154780788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560216250	chr3:154780835-154780836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540435807	chr3:154780848-154780849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561911850	chr3:154780854-154780855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113256180	chr3:154780892-154780893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201058424	chr3:154780913-154780914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529759117	chr3:154780920-154780921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs151003135	chr3:154780925-154780926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541550125	chr3:154780954-154780955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200059141	chr3:154780987-154780988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541473222	chr3:154781017-154781018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563379895	chr3:154781028-154781029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530462678	chr3:154781042-154781043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552149667	chr3:154781043-154781044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533514165	chr3:154781073-154781074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374912875	chr3:154781137-154781138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531502413	chr3:154781140-154781141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533824793	chr3:154781151-154781152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539167525	chr3:154781176-154781177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371663338	chr3:154781255-154781256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372270018	chr3:154781263-154781264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376836326	chr3:154781264-154781265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369413530	chr3:154781271-154781272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372395032	chr3:154781275-154781276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375633353	chr3:154781277-154781278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28625536	chr3:154781356-154781357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9758635	chr3:154781404-154781405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9757498	chr3:154781405-154781406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111442074	chr3:154781409-154781410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28683517	chr3:154781411-154781412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
Bladder cancer	21909424	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:154774600-154788800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:154778600-154782400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:154778600-154787000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:154781600-154782200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:154781600-154782600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:154781600-154783800	Enhancers	K562	blood
7	chr3:154781600-154784600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:154781800-154784800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:154782200-154783800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:154782200-154783800	Enhancers	Adipose Nuclei	Adipose
11	chr3:154782200-154784400	Enhancers	HSMM	muscle
12	chr3:154782200-154784600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:154782200-154784800	Enhancers	NHDF-Ad	bronchial
14	chr3:154782400-154784000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:154782400-154784200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:154782400-154784400	Enhancers	NHLF	lung
17	chr3:154782400-154784600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr3:154782400-154784600	Enhancers	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links