Variant report

Variant	esv274882
Chromosome Location	chr11:59231081-59236770
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	CEBPB	chr11:59235653-59235832	K562	blood:	n/a	n/a
2	FOS	chr11:59230708-59231171	HUVEC	blood vessel:	n/a	chr11:59230981-59230989 chr11:59230981-59230988 chr11:59230980-59230990 chr11:59230981-59230989 chr11:59230979-59230990
3	MYC	chr11:59234977-59235051	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr11:59236407-59236513	MCF10A-Er-Src	breast:	n/a	n/a
5	SPI1	chr11:59232169-59232286	GM12878	blood:	n/a	n/a
6	SPI1	chr11:59232098-59232291	K562	blood:	n/a	n/a
7	SPI1	chr11:59232097-59232318	K562	blood:	n/a	n/a
8	SPI1	chr11:59232054-59232336	GM12891	blood:	n/a	n/a
9	SPI1	chr11:59232151-59232334	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000254640	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149533871	chr11:59231095-59231096	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs536696360	chr11:59231100-59231101	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs144265940	chr11:59231120-59231121	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs371442421	chr11:59231135-59231136	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs533606700	chr11:59231174-59231175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548677517	chr11:59231184-59231185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181661107	chr11:59231204-59231205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537446069	chr11:59231224-59231225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555927081	chr11:59231252-59231253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575880190	chr11:59231259-59231260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539772935	chr11:59231333-59231334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558304865	chr11:59231352-59231353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553411731	chr11:59231393-59231394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185806872	chr11:59231478-59231479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9665874	chr11:59231505-59231506	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs146582684	chr11:59231510-59231511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141009512	chr11:59231513-59231514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111569085	chr11:59231565-59231566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535319600	chr11:59231577-59231578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9666938	chr11:59231625-59231626	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs150187573	chr11:59231635-59231636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558967499	chr11:59231674-59231675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533224294	chr11:59231686-59231687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551400821	chr11:59231699-59231700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138750657	chr11:59231746-59231747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527486409	chr11:59231781-59231782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558179590	chr11:59232063-59232064	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs190611808	chr11:59232091-59232092	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs536776566	chr11:59232093-59232094	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs76124765	chr11:59232150-59232151	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs34138574	chr11:59232186-59232187	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs534380225	chr11:59232212-59232213	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs183228549	chr11:59232311-59232312	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs566845657	chr11:59234992-59234993	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs543712964	chr11:59235008-59235009	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs187208375	chr11:59235654-59235655	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs542100054	chr11:59235655-59235656	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs147106672	chr11:59235669-59235670	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs530937240	chr11:59235692-59235693	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59230400-59231200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:59230400-59231200	Enhancers	HUVEC	blood vessel
3	chr11:59230600-59231200	Enhancers	Ovary	ovary
4	chr11:59231000-59231800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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