Variant report

Variant	esv3410667
Chromosome Location	chr3:68677937-68680260
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533362322	chr3:68677941-68677942	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558290167	chr3:68677954-68677955	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375360991	chr3:68677963-68677964	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139152776	chr3:68678057-68678058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369042614	chr3:68678123-68678124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144073308	chr3:68678144-68678145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371407439	chr3:68678169-68678170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549625387	chr3:68678178-68678179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529835385	chr3:68678189-68678190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371697346	chr3:68678192-68678193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565764650	chr3:68678199-68678200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1511910	chr3:68678211-68678212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs188855750	chr3:68678235-68678236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111799128	chr3:68678280-68678281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571116469	chr3:68678283-68678284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112588449	chr3:68678303-68678304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556973943	chr3:68678374-68678375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111736038	chr3:68678379-68678380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34224188	chr3:68678429-68678430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs536024655	chr3:68678441-68678442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116732695	chr3:68678444-68678445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183124675	chr3:68678445-68678446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377667525	chr3:68678481-68678482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554930451	chr3:68678624-68678625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541077351	chr3:68678638-68678639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187082008	chr3:68678662-68678663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564248037	chr3:68678681-68678682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34623247	chr3:68678754-68678755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577946278	chr3:68678763-68678764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543844777	chr3:68678765-68678766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1847488	chr3:68678782-68678783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529626180	chr3:68678796-68678797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1847489	chr3:68678812-68678813	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs1847490	chr3:68678822-68678823	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs1847491	chr3:68678828-68678829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs183642660	chr3:68678845-68678846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189283335	chr3:68678850-68678851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536622464	chr3:68678856-68678857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550587113	chr3:68678864-68678865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs193298408	chr3:68678873-68678874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536115617	chr3:68678878-68678879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557286421	chr3:68678897-68678898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185082872	chr3:68678903-68678904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190372823	chr3:68678935-68678936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181789901	chr3:68678970-68678971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185595251	chr3:68678992-68678993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562753739	chr3:68679045-68679046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572658580	chr3:68679078-68679079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538483618	chr3:68679105-68679106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13089038	chr3:68679114-68679115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Breast cancer	17142309	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:68676600-68678000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:68676600-68679800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:68677600-68680400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:68678000-68680800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:68679800-68680000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:68680000-68680400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:68680000-68680800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr3:68680000-68680800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr3:68680000-68681000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr3:68680200-68680800	Enhancers	HUES48 Cell Line	embryonic stem cell

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