Variant report

Variant	esv2760377
Chromosome Location	chr11:24286221-24296462
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	chr11:24286441-24286782	HepG2	liver:	n/a	chr11:24286614-24286625
2	CEBPB	chr11:24286490-24286757	A549	lung:	n/a	chr11:24286614-24286625
3	CEBPB	chr11:24286473-24286778	K562	blood:	n/a	chr11:24286614-24286625
4	CEBPB	chr11:24286432-24286807	IMR90	lung:	n/a	chr11:24286614-24286625
5	CEBPB	chr11:24286523-24286771	H1-hESC	embryonic stem cell:	n/a	chr11:24286614-24286625
6	CEBPB	chr11:24286473-24286785	Hela-S3	cervix:	n/a	chr11:24286614-24286625
7	CTCF	chr11:24294600-24294750	Caco-2	colon:	n/a	n/a
8	EP300	chr11:24293473-24293634	SK-N-SH_RA	brain:	n/a	n/a
9	EP300	chr11:24293076-24293881	SK-N-SH	brain:	n/a	chr11:24293718-24293727
10	FOS	chr11:24286556-24286734	MCF10A-Er-Src	breast:	n/a	n/a
11	GATA2	chr11:24293373-24293708	SH-SY5Y	brain:	n/a	n/a
12	GATA3	chr11:24293268-24293743	SH-SY5Y	brain:	n/a	n/a
13	HEY1	chr11:24295228-24295363	HepG2	liver:	n/a	n/a
14	JUN	chr11:24294418-24294540	K562	blood:	n/a	n/a
15	JUND	chr11:24286486-24286770	HepG2	liver:	n/a	n/a
16	JUND	chr11:24286549-24286605	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr11:24288656-24288870	H1-hESC	embryonic stem cell:	n/a	n/a
18	NFYB	chr11:24295176-24295540	GM12878	blood:	n/a	n/a
19	NFYB	chr11:24295174-24295547	K562	blood:	n/a	n/a
20	POLR2A	chr11:24287009-24287280	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr11:24295251-24295389	HepG2	liver:	n/a	n/a
22	POLR2A	chr11:24288581-24288891	H1-neurons	neurons:	n/a	n/a
23	POLR2A	chr11:24291656-24291797	MCF10A-Er-Src	breast:	n/a	n/a
24	RFX5	chr11:24292061-24292085	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000254594	TF binding region

Extended variants
information (count: 140 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12790279	chr11:24286221-24286222	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563785828	chr11:24286225-24286226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12791360	chr11:24286239-24286240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs148082517	chr11:24286255-24286256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551325237	chr11:24286264-24286265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560857830	chr11:24286293-24286294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529595758	chr11:24286303-24286304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538711414	chr11:24286332-24286333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76571775	chr11:24286425-24286426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549325545	chr11:24286431-24286432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560156103	chr11:24286481-24286482	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs16912353	chr11:24286512-24286513	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs369650965	chr11:24286527-24286528	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs78046699	chr11:24286539-24286540	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs80192131	chr11:24286546-24286547	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs145039478	chr11:24286550-24286551	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs551252741	chr11:24286561-24286562	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs12277966	chr11:24286633-24286634	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs138027739	chr11:24286694-24286695	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs547287157	chr11:24286701-24286702	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs553127643	chr11:24286774-24286775	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs566937054	chr11:24286780-24286781	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs200093881	chr11:24286781-24286782	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs142519850	chr11:24286803-24286804	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs201613547	chr11:24286810-24286811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368715963	chr11:24286812-24286813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79006950	chr11:24286839-24286840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565680560	chr11:24286866-24286867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75906393	chr11:24286875-24286876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181354468	chr11:24286924-24286925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554415072	chr11:24286927-24286928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574404419	chr11:24286935-24286936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539823613	chr11:24286968-24286969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144767505	chr11:24286969-24286970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532227278	chr11:24287015-24287016	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs545542892	chr11:24287016-24287017	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs184894444	chr11:24287026-24287027	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs562608480	chr11:24287032-24287033	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs557698531	chr11:24287101-24287102	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs531101722	chr11:24287102-24287103	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs374525633	chr11:24287215-24287216	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs368750292	chr11:24287239-24287240	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs551212171	chr11:24287242-24287243	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs567944875	chr11:24287291-24287292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530445776	chr11:24287372-24287373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569706364	chr11:24287480-24287481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189771990	chr11:24287524-24287525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79024373	chr11:24287547-24287548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539032280	chr11:24287582-24287583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138674372	chr11:24287606-24287607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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	18451855	CNVD

Chromatin state (count:4 , 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
4	chr11:24295800-24296200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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