Variant report

Variant	nsv975843
Chromosome Location	chr11:51458657-51463556
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	CEBPB	chr11:51462374-51462420	HepG2	liver:	n/a	chr11:51462402-51462413 chr11:51462402-51462411 chr11:51462402-51462411 chr11:51462400-51462411 chr11:51462402-51462411 chr11:51462402-51462411
2	CTCF	chr11:51459728-51459754	Kidney_OC	kidney:	n/a	n/a
3	POLR2A	chr11:51459256-51459326	ProgFib	skin:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4C46-1	chr11:51461564-51462160	NONHSAT021349

Variant related genes	Relation type
OR4A3P	TF binding region
OR4A4P	TF binding region
OR4R2P	TF binding region

Extended variants
information (count: 209 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:209 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534108255	chr11:51458668-51458669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577458287	chr11:51458673-51458674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541373957	chr11:51458691-51458692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186146634	chr11:51458705-51458706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570803276	chr11:51458755-51458756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571667663	chr11:51458775-51458776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571807432	chr11:51458804-51458805	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs542232034	chr11:51458805-51458806	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs539793264	chr11:51458817-51458818	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs561010642	chr11:51458833-51458834	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs531339939	chr11:51458888-51458889	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs543594091	chr11:51458892-51458893	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs200230324	chr11:51458895-51458896	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs555695076	chr11:51458912-51458913	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs564978465	chr11:51458922-51458923	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs190960451	chr11:51458925-51458926	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs200736396	chr11:51458930-51458931	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs547673182	chr11:51458934-51458935	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs565992365	chr11:51458965-51458966	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs530084995	chr11:51458980-51458981	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs548324315	chr11:51459000-51459001	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs570122613	chr11:51459018-51459019	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs537190843	chr11:51459019-51459020	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs150413290	chr11:51459044-51459045	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs5009058	chr11:51459057-51459058	Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs534898646	chr11:51459058-51459059	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs553217202	chr11:51459075-51459076	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs536359602	chr11:51459086-51459087	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs574814876	chr11:51459094-51459095	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs182745900	chr11:51459105-51459106	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs554308121	chr11:51459125-51459126	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs576084421	chr11:51459126-51459127	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs539004239	chr11:51459138-51459139	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs543102701	chr11:51459148-51459149	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs548077843	chr11:51459166-51459167	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs187395919	chr11:51459172-51459173	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs138204158	chr11:51459173-51459174	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs541247629	chr11:51459193-51459194	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs559662476	chr11:51459196-51459197	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs193202852	chr11:51459199-51459200	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs548555478	chr11:51459203-51459204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570001458	chr11:51459208-51459209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530938874	chr11:51459229-51459230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182971141	chr11:51459230-51459231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570627583	chr11:51459242-51459243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368514083	chr11:51459252-51459253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534862156	chr11:51459259-51459260	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs553180259	chr11:51459294-51459295	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs555194616	chr11:51459296-51459297	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs552978665	chr11:51459308-51459309	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:43)

Disease	PMID	Source
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
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
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:51453800-51458800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:51458800-51459200	Active TSS	Brain Substantia Nigra	brain
3	chr11:51458800-51459200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
4	chr11:51459200-51461200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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