Variant report

Variant	nsv825819
Chromosome Location	chr11:33560219-33560847
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	SPI1	chr11:33560384-33560572	GM12878	blood:	n/a	n/a
2	SPI1	chr11:33560321-33560626	GM12891	blood:	n/a	n/a
3	SPI1	chr11:33560079-33560696	GM12878	blood:	n/a	n/a
4	SPI1	chr11:33560352-33560641	HL-60	blood:	n/a	n/a
5	SPI1	chr11:33560328-33560615	GM12878	blood:	n/a	n/a
6	SPI1	chr11:33560335-33560658	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:33534524..33537058-chr11:33559192..33562148,2	K562	blood:

Variant related genes	Relation type
KIAA1549L	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12289492	chr11:33560224-33560225	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs80242710	chr11:33560230-33560231	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs141391449	chr11:33560289-33560290	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs543380104	chr11:33560301-33560302	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs572123656	chr11:33560318-33560319	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs143628795	chr11:33560320-33560321	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs577043302	chr11:33560351-33560352	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs141134931	chr11:33560361-33560362	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs545735820	chr11:33560383-33560384	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs559110902	chr11:33560409-33560410	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs528231157	chr11:33560411-33560412	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs7104844	chr11:33560486-33560487	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs182540542	chr11:33560489-33560490	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs548627310	chr11:33560491-33560492	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs369758711	chr11:33560537-33560538	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs117048075	chr11:33560543-33560544	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs374167531	chr11:33560551-33560552	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs372176303	chr11:33560621-33560622	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs570786195	chr11:33560667-33560668	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs540134239	chr11:33560814-33560815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547360225	chr11:33560817-33560818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
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
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	22286061	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33555000-33563400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr11:33555200-33563400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:33555200-33564000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:33555200-33617600	Weak transcription	Fetal Brain Male	brain
5	chr11:33555600-33561000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:33555600-33561000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:33555600-33561000	Weak transcription	NHDF-Ad	bronchial
8	chr11:33555600-33561200	Weak transcription	Osteobl	bone
9	chr11:33555600-33563400	Weak transcription	Brain Germinal Matrix	brain
10	chr11:33555600-33566000	Weak transcription	NH-A	brain
11	chr11:33555600-33566400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:33555600-33567400	Weak transcription	HUVEC	blood vessel
13	chr11:33555600-33568600	Weak transcription	A549	lung
14	chr11:33556800-33565400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:33556800-33566000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:33558600-33564800	Weak transcription	HSMMtube	muscle
17	chr11:33558600-33567600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:33559800-33564800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:33560000-33561000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:33560400-33562800	Weak transcription	Fetal Brain Female	brain
21	chr11:33560600-33562000	Enhancers	GM12878-XiMat	blood
22	chr11:33560800-33566400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:33560800-33569200	Enhancers	Primary neutrophils fromperipheralblood	blood

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