Variant report

Variant	esv3408767
Chromosome Location	chr3:452152-454950
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:453296..456199-chr3:456966..458950,2	K562	blood:

Extended variants
information (count: 102 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59656821	chr3:452169-452170	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185078053	chr3:452210-452211	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs80123449	chr3:452214-452215	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs558307657	chr3:452244-452245	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs576658866	chr3:452265-452266	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs143183391	chr3:452266-452267	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs559360614	chr3:452280-452281	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs151209601	chr3:452297-452298	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs190949427	chr3:452309-452310	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs563315249	chr3:452312-452313	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs140421366	chr3:452359-452360	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs552331441	chr3:452362-452363	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs571853648	chr3:452382-452383	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs532564452	chr3:452383-452384	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs9820626	chr3:452387-452388	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs566202526	chr3:452402-452403	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs376628654	chr3:452414-452415	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs138056112	chr3:452456-452457	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs142442003	chr3:452463-452464	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs144716880	chr3:452468-452469	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs565781559	chr3:452469-452470	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs372057452	chr3:452470-452471	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs537129043	chr3:452480-452481	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs558590344	chr3:452490-452491	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs578031688	chr3:452506-452507	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs577291185	chr3:452507-452508	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs62227315	chr3:452517-452518	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs62227316	chr3:452538-452539	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs144448867	chr3:452542-452543	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs542154204	chr3:452549-452550	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs181131572	chr3:452563-452564	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs575346208	chr3:452565-452566	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs186366928	chr3:452579-452580	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs369920820	chr3:452585-452586	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs528198797	chr3:452591-452592	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs547665586	chr3:452626-452627	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs9869418	chr3:452630-452631	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs61083970	chr3:452642-452643	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs548503783	chr3:452645-452646	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs9869422	chr3:452649-452650	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs537017826	chr3:452665-452666	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs552159422	chr3:452681-452682	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs570819258	chr3:452704-452705	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs535162789	chr3:452706-452707	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs552890890	chr3:452733-452734	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs58386678	chr3:452767-452768	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs535731377	chr3:452781-452782	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs368492140	chr3:452790-452791	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs557259381	chr3:452819-452820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7623027	chr3:452820-452821	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Cancer	20164920	CNVD
Lung cancer	16618734	CNVD
Autism	18349135	CNVD
Breast cancer	20409316	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Intellectual disability	22045946	CNVD
Squamous cell cancer	19607727	CNVD
Gastric adenocarcinoma	19115996	CNVD
sporadic birth defects	19047251	CNVD
Mental retardation	17124404	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Sudden cardiac death	19188705	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	18923191	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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
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
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Autism	22543975	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Tetralogy of Fallot	22912587	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	20685689	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:397600-453400	Weak transcription	Brain Angular Gyrus	brain
2	chr3:421000-453600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr3:424200-453600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:429000-453000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr3:452200-452800	Active TSS	Aorta	Aorta
6	chr3:452800-453400	Enhancers	Aorta	Aorta
7	chr3:453000-453200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr3:453000-453400	Enhancers	Fetal Brain Male	brain
9	chr3:453400-453600	Enhancers	Brain Angular Gyrus	brain
10	chr3:453600-453800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
11	chr3:453600-453800	Enhancers	Brain Inferior Temporal Lobe	brain

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