Variant report

Variant	esv2519068
Chromosome Location	chr3:24780189-24786077
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 263 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:263 , 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	rs73035579	chr3:24780217-24780218	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs4075988	chr3:24780266-24780267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs572851073	chr3:24780281-24780282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73035580	chr3:24780314-24780315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368279302	chr3:24780325-24780326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148514525	chr3:24780329-24780330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112748170	chr3:24780392-24780393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4072729	chr3:24780393-24780394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs35568885	chr3:24780398-24780399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13434017	chr3:24780405-24780406	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs78110090	chr3:24780454-24780455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577679386	chr3:24780509-24780510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201801237	chr3:24780513-24780514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs386659413	chr3:24780514-24780515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372468416	chr3:24780515-24780516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369375636	chr3:24780516-24780517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74719301	chr3:24780518-24780519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141414537	chr3:24780567-24780568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181517546	chr3:24780574-24780575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539507030	chr3:24780576-24780577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79979043	chr3:24780578-24780579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4072733	chr3:24780600-24780601	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs4072732	chr3:24780618-24780619	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs562349695	chr3:24780650-24780651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529585155	chr3:24780659-24780660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550912211	chr3:24780662-24780663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558720515	chr3:24780666-24780667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184870003	chr3:24780674-24780675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551846387	chr3:24780703-24780704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189320277	chr3:24780763-24780764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560546335	chr3:24780803-24780804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532621774	chr3:24780817-24780818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12491920	chr3:24780821-24780822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369154930	chr3:24780827-24780828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373441559	chr3:24780828-24780829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs398091359	chr3:24780836-24780837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533916097	chr3:24780846-24780847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555268125	chr3:24780863-24780864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs80096446	chr3:24780975-24780976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs3936110	chr3:24780990-24780991	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs544813244	chr3:24780995-24780996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556094498	chr3:24781016-24781017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529707746	chr3:24781033-24781034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558508066	chr3:24781039-24781040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4072731	chr3:24781042-24781043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544818236	chr3:24781043-24781044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4566479	chr3:24781045-24781046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4998465	chr3:24781046-24781047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572100880	chr3:24781048-24781049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370832885	chr3:24781051-24781052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24776200-24782600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:24778000-24781600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:24779600-24780200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:24779800-24785200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:24780200-24781600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:24781400-24782200	Enhancers	Fetal Muscle Leg	muscle
7	chr3:24781600-24782400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:24781600-24783200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr3:24781600-24783400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:24781800-24782600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:24781800-24783000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr3:24782000-24782800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr3:24782000-24783200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr3:24782200-24783000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:24782200-24783200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr3:24782600-24783800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:24783400-24785600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:24785200-24785400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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