Variant report

Variant	nsv982946
Chromosome Location	chr11:55052547-55059121
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	BATF	chr11:55056701-55057020	GM12878	blood:	n/a	n/a
2	CTCF	chr11:55054826-55054887	Kidney_OC	kidney:	n/a	n/a
3	CTCF	chr11:55054827-55054891	Spleen_OC	spleen:	n/a	n/a
4	CTCF	chr11:55054223-55054257	GM20000	blood:	n/a	n/a
5	JUN	chr11:55058092-55058283	HepG2	liver:	n/a	n/a
6	JUND	chr11:55058084-55058317	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4C11-4	chr11:55052545-55052560	NONHSAT021356
2	lnc-OR4C11-4	chr11:55052911-55052999	NONHSAT021356

Variant related genes	Relation type
ENSG00000255283	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564958979	chr11:55052911-55052912	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs191369281	chr11:55052918-55052919	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs542259523	chr11:55052933-55052934	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs12787771	chr11:55052934-55052935	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs368847538	chr11:55052948-55052949	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs567085933	chr11:55052957-55052958	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs183947084	chr11:55052959-55052960	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs142828393	chr11:55052966-55052967	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs199508872	chr11:55052967-55052968	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs548123864	chr11:55052994-55052995	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs112151085	chr11:55054235-55054236	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs555528805	chr11:55054236-55054237	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs567564340	chr11:55054255-55054256	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs578023818	chr11:55054831-55054832	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs545528113	chr11:55054861-55054862	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs560284808	chr11:55054863-55054864	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs545081798	chr11:55056707-55056708	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs182175645	chr11:55056717-55056718	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs56060857	chr11:55056767-55056768	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs537182368	chr11:55056786-55056787	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs558900402	chr11:55056794-55056795	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs577216573	chr11:55056815-55056816	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs373194191	chr11:55056823-55056824	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs532714025	chr11:55056825-55056826	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs376169347	chr11:55056847-55056848	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs535021203	chr11:55056855-55056856	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs553666215	chr11:55056874-55056875	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs575229497	chr11:55056895-55056896	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs542413922	chr11:55056901-55056902	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs147552032	chr11:55056968-55056969	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs185973882	chr11:55056977-55056978	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs543194542	chr11:55056984-55056985	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs4091271	chr11:55056989-55056990	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs531969973	chr11:55056990-55056991	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs141963448	chr11:55057006-55057007	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs368599120	chr11:55057018-55057019	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs372389852	chr11:55057201-55057202	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs138759455	chr11:55057219-55057220	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs12575696	chr11:55057235-55057236	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs113427449	chr11:55057241-55057242	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs570934340	chr11:55057254-55057255	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs546410921	chr11:55057255-55057256	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs534985584	chr11:55057261-55057262	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs199583474	chr11:55057286-55057287	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs553428157	chr11:55057297-55057298	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs527251758	chr11:55057311-55057312	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs564351929	chr11:55057313-55057314	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs148038019	chr11:55057379-55057380	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs557522161	chr11:55057392-55057393	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs575795760	chr11:55057471-55057472	Active TSS	n/a	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	chr11:55057200-55057600	Active TSS	Fetal Heart	heart

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