Variant report

Variant	esv13750
Chromosome Location	chr3:146484705-146489124
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528069828	chr3:146486015-146486016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550974073	chr3:146486016-146486017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533318805	chr3:146486056-146486057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78095108	chr3:146486091-146486092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563718729	chr3:146486115-146486116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575839369	chr3:146486174-146486175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75340520	chr3:146486205-146486206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542853337	chr3:146486210-146486211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567335448	chr3:146486211-146486212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529943719	chr3:146486219-146486220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190608908	chr3:146486364-146486365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529016062	chr3:146486365-146486366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547392100	chr3:146486381-146486382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144646249	chr3:146486393-146486394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530563101	chr3:146486802-146486803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533249420	chr3:146486810-146486811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543949931	chr3:146486811-146486812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561085033	chr3:146486825-146486826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529906190	chr3:146486857-146486858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187084792	chr3:146486876-146486877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140643032	chr3:146486891-146486892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374515864	chr3:146486954-146486955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532470006	chr3:146486982-146486983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552507980	chr3:146486999-146487000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143514726	chr3:146487008-146487009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374696454	chr3:146487040-146487041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551696410	chr3:146487061-146487062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150024979	chr3:146487095-146487096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566781303	chr3:146487106-146487107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192461417	chr3:146487133-146487134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79141789	chr3:146487175-146487176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568227334	chr3:146487177-146487178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570691364	chr3:146488000-146488001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548920517	chr3:146488025-146488026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540072256	chr3:146488040-146488041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7617943	chr3:146488110-146488111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs372513217	chr3:146488122-146488123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530212905	chr3:146488129-146488130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7617957	chr3:146488134-146488135	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs368781200	chr3:146488157-146488158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554624761	chr3:146488164-146488165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574550273	chr3:146488171-146488172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540313294	chr3:146488201-146488202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs137952966	chr3:146488258-146488259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567394283	chr3:146488273-146488274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9289731	chr3:146488309-146488310	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs552931115	chr3:146488346-146488347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9289732	chr3:146488356-146488357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs562595827	chr3:146488368-146488369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531657604	chr3:146488410-146488411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Bipolar disorder	18458673	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
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146486000-146486400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:146486000-146486400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:146486800-146487200	Enhancers	Dnd41	blood
4	chr3:146488000-146489800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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