Variant report

Variant	nsv975184
Chromosome Location	chr11:56124251-56126625
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	chr11:56125074-56125141	GM13976	blood:	n/a	n/a
2	POLR2A	chr11:56124985-56125245	H1-hESC	embryonic stem cell:	n/a	n/a
3	SPI1	chr11:56125544-56125711	GM12878	blood:	n/a	n/a
4	SPI1	chr11:56125521-56125712	GM12891	blood:	n/a	n/a
5	SPI1	chr11:56125541-56125709	GM12891	blood:	n/a	n/a

Variant related genes	Relation type
RPL5P29	TF binding region
OR8J1	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11228123	chr11:56124635-56124636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527875668	chr11:56124658-56124659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564094965	chr11:56124660-56124661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141001845	chr11:56124676-56124677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546961820	chr11:56124714-56124715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181589321	chr11:56124751-56124752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376848765	chr11:56124772-56124773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185705155	chr11:56124799-56124800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548153025	chr11:56124800-56124801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113014181	chr11:56124807-56124808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554393587	chr11:56124825-56124826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76927240	chr11:56124838-56124839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61903530	chr11:56124864-56124865	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs374583377	chr11:56124866-56124867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572885726	chr11:56124867-56124868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112921748	chr11:56124869-56124870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555896603	chr11:56124897-56124898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144909568	chr11:56124903-56124904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574678092	chr11:56124933-56124934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541622036	chr11:56124938-56124939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1967011	chr11:56124943-56124944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138742313	chr11:56124945-56124946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148932554	chr11:56124957-56124958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545895324	chr11:56124962-56124963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564204640	chr11:56124970-56124971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143633242	chr11:56124973-56124974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs61903531	chr11:56124976-56124977	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs59418539	chr11:56124985-56124986	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs148114044	chr11:56125009-56125010	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs555027786	chr11:56125026-56125027	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs572751815	chr11:56125028-56125029	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs571951274	chr11:56125029-56125030	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs61737622	chr11:56125042-56125043	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs12271906	chr11:56125043-56125044	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs12419960	chr11:56125117-56125118	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs61745317	chr11:56125123-56125124	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs150638417	chr11:56125126-56125127	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs533892219	chr11:56125140-56125141	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs555739243	chr11:56125142-56125143	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs568232303	chr11:56125173-56125174	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs372964445	chr11:56125174-56125175	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs182695921	chr11:56125184-56125185	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs372343332	chr11:56125203-56125204	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs375581154	chr11:56125224-56125225	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs9705184	chr11:56125243-56125244	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs528908965	chr11:56125542-56125543	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs546523055	chr11:56125555-56125556	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs544487727	chr11:56125584-56125585	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs191155854	chr11:56125617-56125618	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs533343459	chr11:56125648-56125649	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:47)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	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
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56124600-56125200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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