Variant report

Variant	nsv553788
Chromosome Location	chr11:24285117-24292165
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	chr11:24286473-24286785	Hela-S3	cervix:	n/a	chr11:24286614-24286625
2	CEBPB	chr11:24286441-24286782	HepG2	liver:	n/a	chr11:24286614-24286625
3	CEBPB	chr11:24286490-24286757	A549	lung:	n/a	chr11:24286614-24286625
4	CEBPB	chr11:24286473-24286778	K562	blood:	n/a	chr11:24286614-24286625
5	CEBPB	chr11:24286432-24286807	IMR90	lung:	n/a	chr11:24286614-24286625
6	CEBPB	chr11:24286523-24286771	H1-hESC	embryonic stem cell:	n/a	chr11:24286614-24286625
7	FOS	chr11:24286556-24286734	MCF10A-Er-Src	breast:	n/a	n/a
8	JUND	chr11:24286549-24286605	H1-hESC	embryonic stem cell:	n/a	n/a
9	JUND	chr11:24286486-24286770	HepG2	liver:	n/a	n/a
10	MAX	chr11:24288656-24288870	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr11:24285323-24285505	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr11:24288581-24288891	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr11:24287009-24287280	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr11:24291656-24291797	MCF10A-Er-Src	breast:	n/a	n/a
15	RFX5	chr11:24292061-24292085	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000254594	TF binding region

Extended variants
information (count: 134 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534914709	chr11:24285134-24285135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11825384	chr11:24285137-24285138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs142511051	chr11:24285146-24285147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186919836	chr11:24285271-24285272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557424189	chr11:24285302-24285303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574180515	chr11:24285315-24285316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144932900	chr11:24285328-24285329	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs147967006	chr11:24285373-24285374	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs149005810	chr11:24285382-24285383	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs114459323	chr11:24285466-24285467	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs565152361	chr11:24285468-24285469	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs530749853	chr11:24285469-24285470	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs550139635	chr11:24285482-24285483	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs560595609	chr11:24285510-24285511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75559464	chr11:24285585-24285586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546249062	chr11:24285670-24285671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566447835	chr11:24285715-24285716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76748870	chr11:24285765-24285766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551696929	chr11:24285774-24285775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143669884	chr11:24285814-24285815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537790940	chr11:24285838-24285839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189813472	chr11:24285840-24285841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574044781	chr11:24285981-24285982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536653017	chr11:24285986-24285987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375037700	chr11:24285996-24285997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559936623	chr11:24286012-24286013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116197273	chr11:24286076-24286077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573271973	chr11:24286084-24286085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs16912350	chr11:24286117-24286118	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs548802514	chr11:24286186-24286187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12790279	chr11:24286221-24286222	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs563785828	chr11:24286225-24286226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12791360	chr11:24286239-24286240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs148082517	chr11:24286255-24286256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551325237	chr11:24286264-24286265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560857830	chr11:24286293-24286294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529595758	chr11:24286303-24286304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538711414	chr11:24286332-24286333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76571775	chr11:24286425-24286426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549325545	chr11:24286431-24286432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560156103	chr11:24286481-24286482	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs16912353	chr11:24286512-24286513	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs369650965	chr11:24286527-24286528	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs78046699	chr11:24286539-24286540	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs80192131	chr11:24286546-24286547	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs145039478	chr11:24286550-24286551	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs551252741	chr11:24286561-24286562	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs12277966	chr11:24286633-24286634	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs138027739	chr11:24286694-24286695	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs547287157	chr11:24286701-24286702	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
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
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24275400-24288000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:24288000-24288600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr11:24288200-24288600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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