Variant report

Variant	nsv9145
Chromosome Location	chr14:46933673-46936138
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	CTCF	chr14:46933940-46934090	AG10803	skin:	n/a	n/a
2	POLR2A	chr14:46935090-46935136	MCF10A-Er-Src	breast:	n/a	n/a
3	SRF	chr14:46934261-46934365	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
LINC00871	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528742969	chr14:46933684-46933685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370110088	chr14:46933691-46933692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556985796	chr14:46933697-46933698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575280296	chr14:46933706-46933707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184976191	chr14:46933775-46933776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368413037	chr14:46933834-46933835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554318333	chr14:46933879-46933880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574269797	chr14:46933907-46933908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541702770	chr14:46933950-46933951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560089290	chr14:46933951-46933952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs578194868	chr14:46934000-46934001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545631832	chr14:46934041-46934042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374127559	chr14:46934085-46934086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562114634	chr14:46934097-46934098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143819319	chr14:46934166-46934167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	19907438	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46927800-46934200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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