Variant report

Variant	esv989994
Chromosome Location	chr3:133503768-133505083
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	chr3:133494152..133496090-chr3:133504815..133507744,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569107793	chr3:133503783-133503784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538344066	chr3:133503784-133503785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551573316	chr3:133503811-133503812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562858179	chr3:133503839-133503840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201281046	chr3:133503850-133503851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571839782	chr3:133503868-133503869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112987008	chr3:133503942-133503943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7612024	chr3:133504261-133504262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7623830	chr3:133504406-133504407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7626093	chr3:133504503-133504504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7614611	chr3:133504508-133504509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374902643	chr3:133504543-133504544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552431940	chr3:133504596-133504597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367986119	chr3:133504626-133504627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372509364	chr3:133504659-133504660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374175604	chr3:133504722-133504723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368655609	chr3:133504727-133504728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534378329	chr3:133504788-133504789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554375123	chr3:133504797-133504798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574410093	chr3:133504857-133504858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577104382	chr3:133504878-133504879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536899961	chr3:133504913-133504914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555352549	chr3:133504919-133504920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200530836	chr3:133504946-133504947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575123561	chr3:133504988-133504989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545690708	chr3:133505050-133505051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559148129	chr3:133505062-133505063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs59954827	chr3:133505066-133505067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369159211	chr3:133505067-133505068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112075170	chr3:133505073-133505074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544340440	chr3:133505082-133505083	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
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	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
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Hailey-hailey disease	17597066	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133498600-133505800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:133498600-133510400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr3:133498800-133508000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:133499000-133505200	Weak transcription	Brain Anterior Caudate	brain
5	chr3:133499000-133510800	Weak transcription	Brain Hippocampus Middle	brain

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