Variant report

Variant	esv3399358
Chromosome Location	chr3:78302462-78304510
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373382278	chr3:78302500-78302501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551577751	chr3:78302501-78302502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181846949	chr3:78302539-78302540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539172712	chr3:78302545-78302546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546260496	chr3:78302582-78302583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13096355	chr3:78302685-78302686	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs535380468	chr3:78302691-78302692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73849003	chr3:78302722-78302723	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs149221665	chr3:78302738-78302739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538004274	chr3:78302764-78302765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184801541	chr3:78302792-78302793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144567578	chr3:78303003-78303004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189411625	chr3:78303100-78303101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368109774	chr3:78303113-78303114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73849004	chr3:78303125-78303126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542667159	chr3:78303131-78303132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533156299	chr3:78303133-78303134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562810640	chr3:78303134-78303135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531906649	chr3:78303141-78303142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181421526	chr3:78303159-78303160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187013820	chr3:78303160-78303161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532875611	chr3:78303228-78303229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546720685	chr3:78303282-78303283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1917099	chr3:78303312-78303313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs535387132	chr3:78303419-78303420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564048080	chr3:78303420-78303421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191001213	chr3:78303440-78303441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143280008	chr3:78303445-78303446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569145496	chr3:78303457-78303458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35884433	chr3:78303541-78303542	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs557975649	chr3:78303609-78303610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141597768	chr3:78303664-78303665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551965558	chr3:78303698-78303699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146207996	chr3:78303709-78303710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375220178	chr3:78303718-78303719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148014452	chr3:78303741-78303742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542983222	chr3:78303795-78303796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368375723	chr3:78303827-78303828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141731695	chr3:78303887-78303888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150573232	chr3:78303931-78303932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75429378	chr3:78303975-78303976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545332841	chr3:78303982-78303983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79309852	chr3:78303984-78303985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139600721	chr3:78304016-78304017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181600006	chr3:78304018-78304019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566453931	chr3:78304024-78304025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539537955	chr3:78304040-78304041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541274421	chr3:78304063-78304064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185928856	chr3:78304121-78304122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1917098	chr3:78304225-78304226	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:75)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Hirschsprung''s Disease	21712996	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78300400-78307000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:78302200-78303000	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr3:78302800-78303000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:78303000-78304800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr3:78303600-78303800	Enhancers	NHLF	lung
6	chr3:78303800-78304600	Weak transcription	NHLF	lung
7	chr3:78304200-78304800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:78304400-78304600	Enhancers	NHDF-Ad	bronchial

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