Variant report

Variant	nsv554791
Chromosome Location	chr11:55030447-55035097
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	chr11:55032411-55032485	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: 128 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12099133	chr11:55030447-55030448	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141511327	chr11:55030510-55030511	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs567258255	chr11:55030517-55030518	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs532151753	chr11:55030528-55030529	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs371810965	chr11:55030542-55030543	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs567739723	chr11:55030553-55030554	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs114292010	chr11:55030570-55030571	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs190241974	chr11:55030614-55030615	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs529736964	chr11:55030615-55030616	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs548471301	chr11:55030616-55030617	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs570000956	chr11:55030648-55030649	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs537229162	chr11:55030666-55030667	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs558512043	chr11:55030668-55030669	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs7114087	chr11:55030685-55030686	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs180806007	chr11:55030686-55030687	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs553070150	chr11:55030694-55030695	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs116446948	chr11:55030707-55030708	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs535488100	chr11:55030713-55030714	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs557207600	chr11:55030715-55030716	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs369023593	chr11:55030718-55030719	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs575897400	chr11:55030720-55030721	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs186269362	chr11:55030722-55030723	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs149474527	chr11:55030725-55030726	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs115663522	chr11:55030726-55030727	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs573389656	chr11:55030729-55030730	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs557810263	chr11:55030756-55030757	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs540741848	chr11:55030758-55030759	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs114021094	chr11:55030771-55030772	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs529699169	chr11:55030784-55030785	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs548237300	chr11:55030793-55030794	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs538978199	chr11:55030828-55030829	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs143956247	chr11:55030847-55030848	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs557865019	chr11:55030852-55030853	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs191792368	chr11:55030855-55030856	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs199711159	chr11:55030861-55030862	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs200918036	chr11:55030887-55030888	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs7114379	chr11:55030894-55030895	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs184077910	chr11:55030895-55030896	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs552448645	chr11:55030899-55030900	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs7120292	chr11:55030900-55030901	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs570525817	chr11:55030918-55030919	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs118175040	chr11:55030919-55030920	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs377379432	chr11:55030955-55030956	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs546670332	chr11:55030962-55030963	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs115233128	chr11:55030984-55030985	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs186592899	chr11:55030987-55030988	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs7114530	chr11:55030994-55030995	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs575605658	chr11:55030995-55030996	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs539700851	chr11:55031004-55031005	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs558449179	chr11:55031045-55031046	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	chr11:55030400-55031600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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