Variant report

Variant	esv18949
Chromosome Location	chr3:109415099-109416599
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	chr3:109414982..109417591-chr3:109417920..109420582,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539740835	chr3:109415246-109415247	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs545423554	chr3:109415265-109415266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs553282716	chr3:109415279-109415280	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs565032728	chr3:109415466-109415467	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs376096128	chr3:109415467-109415468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs189685460	chr3:109415476-109415477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs553589970	chr3:109415513-109415514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs56325527	chr3:109415521-109415522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs564974958	chr3:109415639-109415640	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs541193627	chr3:109415658-109415659	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs148610788	chr3:109415701-109415702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs192106007	chr3:109415709-109415710	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs56127307	chr3:109415739-109415740	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs543742514	chr3:109415830-109415831	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs556659994	chr3:109415873-109415874	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs370330955	chr3:109415947-109415948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs142221788	chr3:109415949-109415950	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs552205687	chr3:109416070-109416071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs184240038	chr3:109416102-109416103	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs56095462	chr3:109416109-109416110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs576396349	chr3:109416144-109416145	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs528209816	chr3:109416159-109416160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs548377032	chr3:109416197-109416198	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs146744083	chr3:109416224-109416225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs80156581	chr3:109416232-109416233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs537283351	chr3:109416277-109416278	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs189386460	chr3:109416290-109416291	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs72491106	chr3:109416299-109416300	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs201356145	chr3:109416351-109416352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs144082767	chr3:109416359-109416360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs146480451	chr3:109416363-109416364	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs114621048	chr3:109416366-109416367	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs141316309	chr3:109416371-109416372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs62281710	chr3:109416417-109416418	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs1528902	chr3:109416418-109416419	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs544332598	chr3:109416449-109416450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs544041666	chr3:109416466-109416467	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs368191869	chr3:109416518-109416519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	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
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:109414200-109416600	ZNF genes & repeats	Dnd41	blood

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