Variant report

Variant	nsv516980
Chromosome Location	chr3:24780990-24782239
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3936110	chr3:24780990-24780991	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544813244	chr3:24780995-24780996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556094498	chr3:24781016-24781017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529707746	chr3:24781033-24781034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558508066	chr3:24781039-24781040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4072731	chr3:24781042-24781043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544818236	chr3:24781043-24781044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4566479	chr3:24781045-24781046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4998465	chr3:24781046-24781047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572100880	chr3:24781048-24781049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370832885	chr3:24781051-24781052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4072730	chr3:24781052-24781053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs5847310	chr3:24781060-24781061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542669500	chr3:24781109-24781110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6550897	chr3:24781114-24781115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs578078327	chr3:24781118-24781119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112317130	chr3:24781136-24781137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551206788	chr3:24781138-24781139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62231480	chr3:24781200-24781201	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs141714339	chr3:24781203-24781204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551492288	chr3:24781227-24781228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566603772	chr3:24781267-24781268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs180897098	chr3:24781282-24781283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147119784	chr3:24781312-24781313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567281585	chr3:24781314-24781315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186085149	chr3:24781331-24781332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199509412	chr3:24781334-24781335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566494371	chr3:24781361-24781362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191086424	chr3:24781364-24781365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571387912	chr3:24781376-24781377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538897709	chr3:24781449-24781450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145394662	chr3:24781465-24781466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148832929	chr3:24781483-24781484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112076628	chr3:24781530-24781531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569049044	chr3:24781539-24781540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542706469	chr3:24781545-24781546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554610441	chr3:24781621-24781622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7616736	chr3:24781645-24781646	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs544616986	chr3:24781654-24781655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374033222	chr3:24781657-24781658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs59891684	chr3:24781676-24781677	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs530599323	chr3:24781677-24781678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533388181	chr3:24781679-24781680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7616744	chr3:24781687-24781688	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs141852624	chr3:24781695-24781696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560279054	chr3:24781720-24781721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527789228	chr3:24781729-24781730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73035584	chr3:24781780-24781781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567594164	chr3:24781796-24781797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531716863	chr3:24781815-24781816	Weak transcription Enhancers	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:14 , 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	chr3:24779800-24785200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:24780200-24781600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:24781400-24782200	Enhancers	Fetal Muscle Leg	muscle
6	chr3:24781600-24782400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:24781600-24783200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr3:24781600-24783400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:24781800-24782600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:24781800-24783000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:24782000-24782800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:24782000-24783200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr3:24782200-24783000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:24782200-24783200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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