Variant report

Variant	esv3372636
Chromosome Location	chr3:146352712-146354260
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	chr3:146353700..146355636-chr3:146357021..146358712,2	MCF-7	breast:

Extended variants
information (count: 89 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199637008	chr3:146352722-146352723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573879968	chr3:146352727-146352728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185937822	chr3:146352803-146352804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531616469	chr3:146352868-146352869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188792754	chr3:146352887-146352888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs342935	chr3:146352891-146352892	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs563100743	chr3:146352895-146352896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199772872	chr3:146352904-146352905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200509536	chr3:146352920-146352921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201684431	chr3:146352922-146352923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576505017	chr3:146352956-146352957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545008202	chr3:146352963-146352964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563114791	chr3:146352965-146352966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531914352	chr3:146352984-146352985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs342934	chr3:146353016-146353017	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs561991949	chr3:146353039-146353040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529455766	chr3:146353040-146353041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547642572	chr3:146353063-146353064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116753589	chr3:146353064-146353065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114981528	chr3:146353084-146353085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201440889	chr3:146353093-146353094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373849276	chr3:146353097-146353098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115481383	chr3:146353110-146353111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570057827	chr3:146353113-146353114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114422482	chr3:146353119-146353120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537393531	chr3:146353128-146353129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377115840	chr3:146353130-146353131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377293797	chr3:146353132-146353133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369139170	chr3:146353133-146353134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61724519	chr3:146353135-146353136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567525016	chr3:146353139-146353140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13069471	chr3:146353141-146353142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13069619	chr3:146353152-146353153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370740529	chr3:146353154-146353155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577694000	chr3:146353156-146353157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6803897	chr3:146353157-146353158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201815082	chr3:146353158-146353159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373363518	chr3:146353166-146353167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542175724	chr3:146353167-146353168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116146990	chr3:146353178-146353179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6768235	chr3:146353181-146353182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111211455	chr3:146353182-146353183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138178210	chr3:146353187-146353188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559677488	chr3:146353188-146353189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368634743	chr3:146353200-146353201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115296023	chr3:146353204-146353205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185666769	chr3:146353209-146353210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191352894	chr3:146353246-146353247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530934306	chr3:146353265-146353266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182674533	chr3:146353285-146353286	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
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
Breast cancer	21509527	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146352400-146354000	Weak transcription	HepG2	liver
2	chr3:146354000-146356600	Enhancers	HepG2	liver

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