Variant report

Variant	esv2504953
Chromosome Location	chr3:68869567-68871356
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529804738	chr3:68869567-68869568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35381636	chr3:68869587-68869588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546415988	chr3:68869594-68869595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183134879	chr3:68869617-68869618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146267900	chr3:68869636-68869637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551737420	chr3:68869644-68869645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112445960	chr3:68869646-68869647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567643485	chr3:68869663-68869664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530402451	chr3:68869670-68869671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28419315	chr3:68869673-68869674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190081141	chr3:68869675-68869676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548369431	chr3:68869713-68869714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114918542	chr3:68869736-68869737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533980879	chr3:68869743-68869744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567051842	chr3:68869761-68869762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183009982	chr3:68869785-68869786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187754742	chr3:68869792-68869793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558964269	chr3:68869846-68869847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557844944	chr3:68869890-68869891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192376882	chr3:68869902-68869903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183985668	chr3:68869908-68869909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535382092	chr3:68869909-68869910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9849884	chr3:68869923-68869924	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs573892535	chr3:68869929-68869930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9846042	chr3:68869951-68869952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs372914260	chr3:68869966-68869967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540796384	chr3:68869979-68869980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559847422	chr3:68870001-68870002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552898689	chr3:68870015-68870016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532046973	chr3:68870059-68870060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4855524	chr3:68870060-68870061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4855525	chr3:68870064-68870065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs192071582	chr3:68870082-68870083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184486016	chr3:68870119-68870120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139161971	chr3:68870168-68870169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4855526	chr3:68870181-68870182	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs547599304	chr3:68870206-68870207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566993043	chr3:68870208-68870209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9850052	chr3:68870215-68870216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs559000621	chr3:68870226-68870227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144964261	chr3:68870232-68870233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372229509	chr3:68870248-68870249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569732690	chr3:68870285-68870286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538233131	chr3:68870290-68870291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554989964	chr3:68870355-68870356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536703317	chr3:68870360-68870361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114358221	chr3:68870369-68870370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145285852	chr3:68870371-68870372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565008193	chr3:68870391-68870392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113709785	chr3:68870402-68870403	Weak transcription	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:68867200-68872800	Weak transcription	Aorta	Aorta
2	chr3:68869000-68869800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr3:68869400-68869800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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