Variant report

Variant	nsv975183
Chromosome Location	chr11:55147264-55160430
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	chr11:55155068-55155123	GM20000	blood:	n/a	n/a
2	MAFF	chr11:55153142-55153309	HepG2	liver:	n/a	n/a
3	MAFK	chr11:55153195-55153316	HepG2	liver:	n/a	n/a
4	REST	chr11:55157742-55158027	MCF-7	breast:	n/a	n/a
5	REST	chr11:55157615-55158136	HL-60	blood:	n/a	n/a
6	REST	chr11:55157688-55158043	HL-60	blood:	n/a	n/a
7	REST	chr11:55157665-55158014	PANC-1	pancreas:	n/a	n/a
8	REST	chr11:55157631-55157996	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
OR4A9P	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566286495	chr11:55149450-55149451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs527804389	chr11:55149481-55149482	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs184036481	chr11:55149495-55149496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs567640145	chr11:55149527-55149528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs538266579	chr11:55149563-55149564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs141070846	chr11:55149588-55149589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs1425190	chr11:55149593-55149594	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs539292385	chr11:55149623-55149624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs115970160	chr11:55149631-55149632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs116030261	chr11:55149663-55149664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs116244419	chr11:55149676-55149677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs1425189	chr11:55149696-55149697	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs575996191	chr11:55149708-55149709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs573648730	chr11:55149727-55149728	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs143522644	chr11:55149738-55149739	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs146785392	chr11:55149739-55149740	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs140464944	chr11:55149785-55149786	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs557878640	chr11:55153154-55153155	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs116329374	chr11:55153156-55153157	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs4471441	chr11:55153172-55153173	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs147991198	chr11:55153187-55153188	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs201077326	chr11:55153198-55153199	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs573619829	chr11:55153207-55153208	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs142451116	chr11:55153215-55153216	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs199616576	chr11:55153222-55153223	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs562427733	chr11:55153238-55153239	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs574814841	chr11:55155070-55155071	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs181136494	chr11:55155074-55155075	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs112462325	chr11:55155075-55155076	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs531039404	chr11:55155086-55155087	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
small cell lung cancer	20016488	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	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
Multiple myeloma	16616336	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Alcoholism	21790672	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Incontinentia Pigmenti	22033527	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD
Breast cancer	20369283	CNVD
Bipolar disorder	19214233	CNVD
early-passage human iPS cells	21368824	CNVD
Obesity	21131291	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55149400-55149800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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