Variant report

Variant	esv2755835
Chromosome Location	chr3:150509302-150510302
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181849128	chr3:150509310-150509311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573323253	chr3:150509358-150509359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540536153	chr3:150509375-150509376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570169916	chr3:150509487-150509488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148927046	chr3:150509495-150509496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186927780	chr3:150509527-150509528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549938895	chr3:150509532-150509533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75675163	chr3:150509590-150509591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6769917	chr3:150509604-150509605	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs143000996	chr3:150509634-150509635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112271873	chr3:150509637-150509638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192211344	chr3:150509704-150509705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183393743	chr3:150509737-150509738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554311946	chr3:150509804-150509805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72993403	chr3:150509840-150509841	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs72993405	chr3:150509899-150509900	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs556699219	chr3:150509900-150509901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565991607	chr3:150509913-150509914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs151111733	chr3:150510040-150510041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141078622	chr3:150510080-150510081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs41447648	chr3:150510083-150510084	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs527298841	chr3:150510088-150510089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187853057	chr3:150510101-150510102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563880707	chr3:150510126-150510127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533031276	chr3:150510147-150510148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs80156710	chr3:150510196-150510197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370576406	chr3:150510205-150510206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6795396	chr3:150510227-150510228	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs543584338	chr3:150510232-150510233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146815987	chr3:150510237-150510238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559850851	chr3:150510242-150510243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139194064	chr3:150510246-150510247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189587310	chr3:150510261-150510262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547800369	chr3:150510268-150510269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570989823	chr3:150510279-150510280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13318420	chr3:150510290-150510291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1220472	chr3:150510292-150510293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530232268	chr3:150510299-150510300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556354323	chr3:150510302-150510303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	16773561	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Uveal melanoma	20484589	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150507600-150510200	Enhancers	Placenta	Placenta
2	chr3:150509200-150509600	Enhancers	Fetal Muscle Leg	muscle
3	chr3:150509600-150511600	Weak transcription	Fetal Muscle Leg	muscle
4	chr3:150509800-150518400	Weak transcription	Aorta	Aorta
5	chr3:150510000-150510200	Enhancers	HSMMtube	muscle
6	chr3:150510200-150511600	Weak transcription	Placenta	Placenta
7	chr3:150510200-150511800	Weak transcription	HSMMtube	muscle

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