Variant report

Variant	nsv975111
Chromosome Location	chr11:55076487-55106851
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	chr11:55102008-55102079	GM20000	blood:	n/a	n/a
2	E2F4	chr11:55087258-55087458	MCF10A-Er-Src	breast:	n/a	n/a
3	MAFK	chr11:55103787-55103999	HepG2	liver:	n/a	n/a
4	MAFK	chr11:55077358-55077482	HepG2	liver:	n/a	n/a
5	MAFK	chr11:55103858-55104010	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:55102152-55102216	K562	blood:	n/a	n/a
7	POLR2A	chr11:55077345-55077435	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr11:55087831-55087858	MCF10A-Er-Src	breast:	n/a	n/a
9	STAT3	chr11:55079129-55079281	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:55087931..55090092-chr11:55095019..55097450,2	K562	blood:
2	chr11:55087931..55090092-chr11:55095019..55097450,2	K562	blood:

Variant related genes	Relation type
OR4A11P	TF binding region
ENSG00000254828	TF binding region
OR4A16	TF binding region
OR4A12P	TF binding region

Extended variants
information (count: 121 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573159924	chr11:55077380-55077381	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs534131093	chr11:55077398-55077399	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs138500261	chr11:55077401-55077402	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs72486169	chr11:55077409-55077410	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs560036265	chr11:55077437-55077438	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs541937380	chr11:55077457-55077458	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs531228599	chr11:55079642-55079643	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs371690524	chr11:55079650-55079651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs76780498	chr11:55079697-55079698	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs74558188	chr11:55079719-55079720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs79740592	chr11:55079720-55079721	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs577471634	chr11:55079742-55079743	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs79437697	chr11:55079757-55079758	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs141373722	chr11:55079788-55079789	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs75477091	chr11:55079818-55079819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs114012018	chr11:55079832-55079833	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs7943624	chr11:55079850-55079851	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs542779777	chr11:55079854-55079855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs77578970	chr11:55079864-55079865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs78773668	chr11:55079872-55079873	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs567848121	chr11:55079876-55079877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs116205233	chr11:55079884-55079885	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs77174528	chr11:55079887-55079888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs75056380	chr11:55079896-55079897	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs7943639	chr11:55079897-55079898	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs77445330	chr11:55079898-55079899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs76067076	chr11:55079899-55079900	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs76775753	chr11:55079902-55079903	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs78904464	chr11:55079909-55079910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs78819029	chr11:55079919-55079920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs34287812	chr11:55079927-55079928	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs376682554	chr11:55079929-55079930	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs368822437	chr11:55079970-55079971	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs115174018	chr11:55079990-55079991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs372993154	chr11:55079995-55079996	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs7951955	chr11:55080015-55080016	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs539676230	chr11:55080026-55080027	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs116700206	chr11:55080060-55080061	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs530288061	chr11:55080072-55080073	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs114065841	chr11:55080088-55080089	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs149026581	chr11:55080095-55080096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs556203007	chr11:55080103-55080104	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs575568981	chr11:55080108-55080109	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs116479990	chr11:55080137-55080138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs112111166	chr11:55080238-55080239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs544310067	chr11:55080308-55080309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs148197220	chr11:55080343-55080344	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs1836284	chr11:55080344-55080345	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs151182597	chr11:55080356-55080357	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs554014937	chr11:55080359-55080360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55079600-55081200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:55083400-55083800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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