Variant report

Variant	esv1995677
Chromosome Location	chr11:15504886-15504887
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	ATF2	chr11:15504760-15505122	GM12878	blood:	n/a	n/a
2	BATF	chr11:15504772-15505063	GM12878	blood:	n/a	n/a
3	CUX1	chr11:15504783-15505120	GM12878	blood:	n/a	n/a
4	EBF1	chr11:15504822-15505142	GM12878	blood:	n/a	chr11:15504953-15504964 chr11:15504955-15504965 chr11:15504955-15504964
5	EBF1	chr11:15504810-15505139	GM12878	blood:	n/a	chr11:15504953-15504964 chr11:15504955-15504965 chr11:15504955-15504964
6	EBF1	chr11:15504746-15505409	GM12878	blood:	n/a	chr11:15504953-15504964 chr11:15504955-15504965 chr11:15504955-15504964
7	EP300	chr11:15504816-15505108	GM12878	blood:	n/a	chr11:15504887-15504901 chr11:15504886-15504900 chr11:15504984-15504998
8	EP300	chr11:15504827-15505146	GM12878	blood:	n/a	chr11:15504887-15504901 chr11:15504886-15504900 chr11:15504984-15504998
9	NFIC	chr11:15504668-15505028	GM12878	blood:	n/a	n/a
10	RUNX3	chr11:15504747-15505101	GM12878	blood:	n/a	n/a
11	RUNX3	chr11:15504717-15505073	GM12878	blood:	n/a	n/a
12	SPI1	chr11:15504802-15505124	GM12891	blood:	n/a	n/a
13	SPI1	chr11:15504671-15505249	GM12878	blood:	n/a	n/a
14	SPI1	chr11:15504855-15505066	GM12878	blood:	n/a	n/a
15	SPI1	chr11:15504841-15505163	GM12878	blood:	n/a	n/a
16	SPI1	chr11:15504807-15505123	GM12891	blood:	n/a	n/a
17	TBL1XR1	chr11:15504828-15505126	GM12878	blood:	n/a	n/a
18	ZNF384	chr11:15504653-15505064	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000253072	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 52 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5789895	chr11:15504886-15504887	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Myelofibrosis	22110671	CNVD
Cancer	24489367	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Neuroblastoma	19435921	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:15500200-15506000	Weak transcription	Fetal Intestine Large	intestine
2	chr11:15502200-15505200	Enhancers	Liver	Liver
3	chr11:15504000-15506000	Weak transcription	Fetal Intestine Small	intestine
4	chr11:15504000-15506400	Enhancers	GM12878-XiMat	blood

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