Variant report

Variant	esv3333724
Chromosome Location	chr3:145235923-145236091
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575948609	chr3:145235930-145235931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375330606	chr3:145235934-145235935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374531328	chr3:145235939-145235940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376895007	chr3:145235951-145235952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143045592	chr3:145235952-145235953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148188017	chr3:145235963-145235964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201048505	chr3:145236000-145236001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs199917956	chr3:145236001-145236002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368103157	chr3:145236014-145236015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371949511	chr3:145236016-145236017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs199813251	chr3:145236024-145236025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191525982	chr3:145236029-145236030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201142488	chr3:145236035-145236036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561619469	chr3:145236041-145236042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375450785	chr3:145236042-145236043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183309694	chr3:145236043-145236044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201036131	chr3:145236057-145236058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377146489	chr3:145236072-145236073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565915880	chr3:145236073-145236074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569667407	chr3:145236076-145236077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369916530	chr3:145236079-145236080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374492900	chr3:145236080-145236081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376415936	chr3:145236082-145236083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116286452	chr3:145236083-145236084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532052371	chr3:145236087-145236088	Weak transcription Enhancers	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145224600-145237400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:145232600-145236200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:145235200-145237800	Enhancers	HepG2	liver

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