Variant report

Variant	esv3443318
Chromosome Location	chr3:150536512-150541160
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	chr3:150541085..150544869-chr3:150546390..150549285,4	K562	blood:
2	chr3:150538551..150540745-chr3:150548721..150551004,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572233100	chr3:150540286-150540287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541338474	chr3:150540292-150540293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558072432	chr3:150540334-150540335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191069799	chr3:150540363-150540364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112496211	chr3:150540416-150540417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546155149	chr3:150540493-150540494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138487196	chr3:150540505-150540506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368494113	chr3:150540559-150540560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111925280	chr3:150540563-150540564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561947596	chr3:150540564-150540565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549504796	chr3:150540609-150540610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs62282685	chr3:150540652-150540653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6803746	chr3:150540658-150540659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547726002	chr3:150540667-150540668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374987461	chr3:150540689-150540690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182171725	chr3:150540699-150540700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78486547	chr3:150540725-150540726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115088359	chr3:150540734-150540735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369153300	chr3:150540737-150540738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186773510	chr3:150540770-150540771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535305841	chr3:150540787-150540788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569519528	chr3:150540893-150540894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191081353	chr3:150540950-150540951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143342945	chr3:150540951-150540952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs58515064	chr3:150541005-150541006	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs73871604	chr3:150541015-150541016	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs183150575	chr3:150541016-150541017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188033065	chr3:150541048-150541049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs193026442	chr3:150541052-150541053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556529643	chr3:150541128-150541129	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150540200-150541000	Enhancers	HepG2	liver
2	chr3:150540800-150541600	Enhancers	Fetal Lung	lung
3	chr3:150541000-150541400	Enhancers	Ovary	ovary

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