Variant report

Variant	esv2762332
Chromosome Location	chr3:68881162-68890638
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549932993	chr3:68881174-68881175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569731151	chr3:68881176-68881177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563658888	chr3:68881177-68881178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564141405	chr3:68881209-68881210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs60916515	chr3:68881210-68881211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74902451	chr3:68881225-68881226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535462707	chr3:68881232-68881233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376296876	chr3:68881239-68881240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548950053	chr3:68881246-68881247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565974150	chr3:68881262-68881263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534650096	chr3:68881283-68881284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529372493	chr3:68881334-68881335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577789278	chr3:68881393-68881394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183905142	chr3:68881397-68881398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556254706	chr3:68881448-68881449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377643292	chr3:68881463-68881464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541826310	chr3:68881464-68881465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149685190	chr3:68881481-68881482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141490206	chr3:68881502-68881503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149610316	chr3:68881503-68881504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566017478	chr3:68881511-68881512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528770355	chr3:68881531-68881532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147775255	chr3:68881548-68881549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541411372	chr3:68881572-68881573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564781774	chr3:68881606-68881607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533579016	chr3:68881613-68881614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550366805	chr3:68881622-68881623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563374269	chr3:68881637-68881638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528953611	chr3:68881653-68881654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549089009	chr3:68881661-68881662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565585458	chr3:68881667-68881668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534588938	chr3:68881688-68881689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551420959	chr3:68881721-68881722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571484708	chr3:68881754-68881755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536869162	chr3:68881783-68881784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374656682	chr3:68881793-68881794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367950143	chr3:68881839-68881840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535595534	chr3:68881858-68881859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200509054	chr3:68881861-68881862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555828985	chr3:68881882-68881883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4855345	chr3:68881937-68881938	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs113061922	chr3:68881945-68881946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564644439	chr3:68881997-68881998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188730839	chr3:68882009-68882010	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs537277931	chr3:68882012-68882013	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs576615909	chr3:68882041-68882042	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs180808716	chr3:68882043-68882044	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs563912758	chr3:68882068-68882069	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs147640858	chr3:68882131-68882132	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs185764918	chr3:68882170-68882171	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:68875400-68882000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:68881600-68882200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:68882000-68882200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:68882000-68882200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:68882000-68882200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:68882000-68882200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:68882000-68882200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:68882000-68882400	Enhancers	Gastric	stomach
9	chr3:68887800-68888000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:68889000-68889400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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