Variant report

Variant	esv3389754
Chromosome Location	chr3:146123172-146129802
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 274 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575851726	chr3:146123184-146123185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs367544590	chr3:146123194-146123195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561437427	chr3:146123216-146123217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376966147	chr3:146123230-146123231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141540911	chr3:146123238-146123239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147161001	chr3:146123321-146123322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138747015	chr3:146123381-146123382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113146483	chr3:146123458-146123459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532449106	chr3:146123562-146123563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543044991	chr3:146123574-146123575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550944417	chr3:146123617-146123618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs60103813	chr3:146123636-146123637	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs138457430	chr3:146123649-146123650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76622380	chr3:146123653-146123654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577298687	chr3:146123655-146123656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548005722	chr3:146123669-146123670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566298919	chr3:146123704-146123705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs36067998	chr3:146123724-146123725	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs142679669	chr3:146123725-146123726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373140678	chr3:146123781-146123782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141130772	chr3:146123862-146123863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189957340	chr3:146123888-146123889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73152907	chr3:146123891-146123892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183909696	chr3:146123943-146123944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7620107	chr3:146123952-146123953	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs555285797	chr3:146123953-146123954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369549923	chr3:146123955-146123956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540826695	chr3:146123983-146123984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147355386	chr3:146123986-146123987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116347273	chr3:146124004-146124005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541571674	chr3:146124006-146124007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139176248	chr3:146124041-146124042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551499576	chr3:146124042-146124043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569800869	chr3:146124066-146124067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372532308	chr3:146124077-146124078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34931684	chr3:146124095-146124096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530534796	chr3:146124098-146124099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375733643	chr3:146124099-146124100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73867602	chr3:146124159-146124160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566423063	chr3:146124185-146124186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4681320	chr3:146124189-146124190	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs188249883	chr3:146124209-146124210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534876291	chr3:146124210-146124211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537913308	chr3:146124211-146124212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552886299	chr3:146124274-146124275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116208290	chr3:146124338-146124339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571105076	chr3:146124339-146124340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556640388	chr3:146124356-146124357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs180721509	chr3:146124374-146124375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187219352	chr3:146124384-146124385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Bipolar disorder	18458673	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
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146122600-146124800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:146122800-146123800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:146123400-146123600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:146123400-146124000	Enhancers	Fetal Lung	lung
5	chr3:146124000-146124200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:146124000-146125800	Weak transcription	Fetal Lung	lung
7	chr3:146124800-146125200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:146125200-146125600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:146125200-146125600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:146125600-146125800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:146125600-146127000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:146125800-146126200	Enhancers	Fetal Stomach	stomach
13	chr3:146125800-146126600	Enhancers	Fetal Lung	lung
14	chr3:146125800-146127800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:146127000-146127200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:146127800-146128400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:146128400-146129600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:146129600-146130000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:146129600-146130000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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