Variant report

Variant	esv3327132
Chromosome Location	chr3:84597762-84601460
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542649914	chr3:84597772-84597773	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs561606981	chr3:84597784-84597785	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs11127851	chr3:84597798-84597799	Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs191246038	chr3:84597840-84597841	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs570021005	chr3:84597843-84597844	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs565349430	chr3:84597844-84597845	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs532998473	chr3:84597845-84597846	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs551499726	chr3:84597846-84597847	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs577403382	chr3:84597848-84597849	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs111696171	chr3:84597860-84597861	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs62254715	chr3:84597865-84597866	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs549027409	chr3:84597867-84597868	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs567524088	chr3:84597876-84597877	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs182995312	chr3:84597881-84597882	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs546732654	chr3:84597891-84597892	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs571354303	chr3:84597929-84597930	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs538491632	chr3:84597944-84597945	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs557023557	chr3:84598058-84598059	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs114750115	chr3:84598196-84598197	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs536220821	chr3:84598233-84598234	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs557086024	chr3:84598234-84598235	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs554683684	chr3:84598270-84598271	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs566274790	chr3:84598283-84598284	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs370051322	chr3:84598321-84598322	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs573444761	chr3:84598339-84598340	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs146670061	chr3:84598354-84598355	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs567275146	chr3:84598357-84598358	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs536395037	chr3:84598359-84598360	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs565618717	chr3:84598395-84598396	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs188829440	chr3:84598522-84598523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374044219	chr3:84598624-84598625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191528886	chr3:84598628-84598629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553039556	chr3:84598661-84598662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114805785	chr3:84598679-84598680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563349843	chr3:84598749-84598750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187639779	chr3:84598750-84598751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548928602	chr3:84598794-84598795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138899426	chr3:84598863-84598864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115570873	chr3:84598877-84598878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528339177	chr3:84598946-84598947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2326034	chr3:84598988-84598989	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs370950531	chr3:84599022-84599023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191345323	chr3:84599049-84599050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114554833	chr3:84599050-84599051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375138929	chr3:84599065-84599066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2326035	chr3:84599083-84599084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs536358934	chr3:84599107-84599108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535369828	chr3:84599114-84599115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147976045	chr3:84599115-84599116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534239986	chr3:84599122-84599123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
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
Acute myeloid leukemia	20729466	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
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
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	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
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Schizophrenia	23813976	CNVD
Lung squamous cell carcinoma	22363434	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:84596200-84597800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr3:84597000-84598400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr3:84597200-84597800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr3:84597200-84597800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:84597200-84597800	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr3:84597200-84597800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:84597200-84597800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:84597200-84597800	Enhancers	Brain Substantia Nigra	brain
9	chr3:84597200-84597800	Flanking Active TSS	HepG2	liver
10	chr3:84597200-84598400	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr3:84597200-84598400	Active TSS	A549	lung
12	chr3:84597400-84597800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr3:84597400-84597800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:84597400-84597800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:84597400-84597800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr3:84597400-84597800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr3:84597400-84597800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:84597400-84597800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:84597400-84597800	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr3:84597400-84597800	Enhancers	Brain Hippocampus Middle	brain
21	chr3:84597400-84597800	Enhancers	Placenta	Placenta
22	chr3:84597400-84597800	Flanking Active TSS	Pancreas	Pancrea
23	chr3:84597400-84598000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr3:84597600-84597800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:84597600-84598000	Active TSS	Liver	Liver
26	chr3:84597800-84598000	Enhancers	Brain Anterior Caudate	brain
27	chr3:84597800-84598000	Active TSS	Pancreas	Pancrea
28	chr3:84597800-84598200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr3:84597800-84598400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr3:84597800-84600600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr3:84598200-84600800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr3:84598400-84600400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr3:84600200-84601600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:84600400-84601400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr3:84600600-84601000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr3:84600600-84601000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr3:84600600-84601000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr3:84600600-84601600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr3:84600800-84601200	Enhancers	HUES6 Cell Line	embryonic stem cell

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