Variant report

Variant	esv3387548
Chromosome Location	chr3:109697812-109699910
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr3:109699876-109700478	SK-N-SH	brain:	n/a	chr3:109700237-109700253 chr3:109700237-109700253 chr3:109700235-109700256
2	JUN	chr3:109697975-109698014	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAFK	chr3:109699446-109699485	HepG2	liver:	n/a	chr3:109699455-109699470
4	POLR2A	chr3:109698374-109698502	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr3:109699107-109699273	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr3:109697923-109698118	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr3:109699441-109699596	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000243945	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372194980	chr3:109697974-109697975	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs577718669	chr3:109697983-109697984	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs555757716	chr3:109698018-109698019	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs575214066	chr3:109698061-109698062	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs375469733	chr3:109698094-109698095	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs201193052	chr3:109698398-109698399	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs533286527	chr3:109698405-109698406	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs546668340	chr3:109698443-109698444	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs112582982	chr3:109698446-109698447	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs80187266	chr3:109698491-109698492	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs549662922	chr3:109698500-109698501	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs112540658	chr3:109699181-109699182	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs709577	chr3:109699182-109699183	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs545272887	chr3:109699190-109699191	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs186432816	chr3:109699232-109699233	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs9865854	chr3:109699236-109699237	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs546705170	chr3:109699271-109699272	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs111270230	chr3:109699456-109699457	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs9647326	chr3:109699459-109699460	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs140844895	chr3:109699468-109699469	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs533732415	chr3:109699474-109699475	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs556043878	chr3:109699521-109699522	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs142361917	chr3:109699562-109699563	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs151265111	chr3:109699566-109699567	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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