Variant report

Variant	esv3366608
Chromosome Location	chr3:150747837-150750135
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539110928	chr3:150749219-150749220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555846480	chr3:150749329-150749330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138609420	chr3:150749335-150749336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368355901	chr3:150749372-150749373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140286758	chr3:150749373-150749374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189252122	chr3:150749376-150749377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181093280	chr3:150749402-150749403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184201197	chr3:150749413-150749414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189024532	chr3:150749433-150749434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181750785	chr3:150749439-150749440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9867145	chr3:150749446-150749447	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs533179311	chr3:150749469-150749470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374874821	chr3:150749585-150749586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535493468	chr3:150749588-150749589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535851303	chr3:150749669-150749670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542083848	chr3:150749704-150749705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146614178	chr3:150749731-150749732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112707156	chr3:150749740-150749741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562973908	chr3:150749746-150749747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs137914505	chr3:150749759-150749760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186367534	chr3:150749761-150749762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116347252	chr3:150749789-150749790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527955554	chr3:150749837-150749838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374132105	chr3:150749849-150749850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111471130	chr3:150749936-150749937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570668356	chr3:150750027-150750028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149444608	chr3:150750087-150750088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115654866	chr3:150750099-150750100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150749200-150750000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:150750000-150753200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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