Variant report

Variant	esv8902
Chromosome Location	chr11:55031378-55038670
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	chr11:55036086-55036167	GM20000	blood:	n/a	n/a
2	CTCF	chr11:55037779-55037846	GM10248	blood:	n/a	n/a
3	CTCF	chr11:55032411-55032485	Pancreas_OC	pancreas:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4A16-3	chr11:55034884-55035112	NONHSAT021352

Variant related genes	Relation type
ENSG00000255543	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147847755	chr11:55031381-55031382	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs374201080	chr11:55031393-55031394	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs117679981	chr11:55031397-55031398	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs191924904	chr11:55031477-55031478	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs111838627	chr11:55031483-55031484	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs142714208	chr11:55031485-55031486	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs112421578	chr11:55031489-55031490	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs530482774	chr11:55031502-55031503	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs78922451	chr11:55031507-55031508	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs111448736	chr11:55031508-55031509	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs574286783	chr11:55031523-55031524	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs112499536	chr11:55031532-55031533	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs111561038	chr11:55031539-55031540	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs541919352	chr11:55031580-55031581	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs543876889	chr11:55031584-55031585	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs369776044	chr11:55031591-55031592	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs557034728	chr11:55031597-55031598	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs199505585	chr11:55032411-55032412	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs200539887	chr11:55032415-55032416	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs201555277	chr11:55032416-55032417	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs200170748	chr11:55032418-55032419	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs144999178	chr11:55032422-55032423	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs545448989	chr11:55032425-55032426	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs147593172	chr11:55032429-55032430	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs112137140	chr11:55032434-55032435	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs560602745	chr11:55032435-55032436	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs200709338	chr11:55032442-55032443	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs375012867	chr11:55032443-55032444	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs527664203	chr11:55032451-55032452	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs549443392	chr11:55032453-55032454	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs377379499	chr11:55032454-55032455	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs79623326	chr11:55032462-55032463	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs561554119	chr11:55032465-55032466	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs143766722	chr11:55032478-55032479	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs369542635	chr11:55032485-55032486	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs3925362	chr11:55034914-55034915	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs201678462	chr11:55034945-55034946	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs545658061	chr11:55034975-55034976	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs564073797	chr11:55034978-55034979	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs2867253	chr11:55034990-55034991	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs187694179	chr11:55034994-55034995	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs2867254	chr11:55035007-55035008	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs540085174	chr11:55035026-55035027	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs2867255	chr11:55035038-55035039	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs61894889	chr11:55035043-55035044	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs529348153	chr11:55035047-55035048	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs561657790	chr11:55035049-55035050	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs11300273	chr11:55035053-55035054	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs2867256	chr11:55035062-55035063	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs2867257	chr11:55035066-55035067	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55030400-55031600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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