Variant report

Variant	esv3507780
Chromosome Location	chr11:24283776-24288774
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	chr11:24286490-24286757	A549	lung:	n/a	chr11:24286614-24286625
2	CEBPB	chr11:24286473-24286778	K562	blood:	n/a	chr11:24286614-24286625
3	CEBPB	chr11:24286473-24286785	Hela-S3	cervix:	n/a	chr11:24286614-24286625
4	CEBPB	chr11:24286523-24286771	H1-hESC	embryonic stem cell:	n/a	chr11:24286614-24286625
5	CEBPB	chr11:24286441-24286782	HepG2	liver:	n/a	chr11:24286614-24286625
6	CEBPB	chr11:24286432-24286807	IMR90	lung:	n/a	chr11:24286614-24286625
7	FOS	chr11:24286556-24286734	MCF10A-Er-Src	breast:	n/a	n/a
8	GATA3	chr11:24284398-24284521	SH-SY5Y	brain:	n/a	n/a
9	JUND	chr11:24286486-24286770	HepG2	liver:	n/a	n/a
10	JUND	chr11:24286549-24286605	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr11:24288656-24288870	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:24285323-24285505	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr11:24288581-24288891	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr11:24287009-24287280	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr11:24284546-24284557	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr11:24284168-24284410	MCF10A-Er-Src	breast:	n/a	chr11:24284250-24284270

Variant related genes	Relation type
ENSG00000254594	TF binding region

Extended variants
information (count: 189 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:189 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576189403	chr11:24283783-24283784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183760950	chr11:24283817-24283818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs80095628	chr11:24283830-24283831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77790330	chr11:24283842-24283843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572422512	chr11:24283872-24283873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541050348	chr11:24283912-24283913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547979685	chr11:24283999-24284000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564531726	chr11:24284000-24284001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533263699	chr11:24284011-24284012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542875028	chr11:24284021-24284022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560962504	chr11:24284034-24284035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563779190	chr11:24284052-24284053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188288949	chr11:24284065-24284066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201231146	chr11:24284067-24284068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12788438	chr11:24284068-24284069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs533421708	chr11:24284079-24284080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs58576117	chr11:24284165-24284166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs78139794	chr11:24284248-24284249	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs148614503	chr11:24284298-24284299	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs142082914	chr11:24284299-24284300	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs567044691	chr11:24284326-24284327	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs535620049	chr11:24284359-24284360	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs376484288	chr11:24284381-24284382	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs150718227	chr11:24284402-24284403	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs531585782	chr11:24284405-24284406	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs570096664	chr11:24284406-24284407	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs572382631	chr11:24284411-24284412	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs11027795	chr11:24284415-24284416	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs79052070	chr11:24284454-24284455	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs577928143	chr11:24284465-24284466	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs549142840	chr11:24284496-24284497	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs12788920	chr11:24284514-24284515	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs535377626	chr11:24284520-24284521	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs563741995	chr11:24284527-24284528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181807682	chr11:24284543-24284544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113504876	chr11:24284557-24284558	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs184987045	chr11:24284561-24284562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372613526	chr11:24284590-24284591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553511605	chr11:24284595-24284596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559635830	chr11:24284601-24284602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528368872	chr11:24284655-24284656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372564020	chr11:24284676-24284677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551615634	chr11:24284680-24284681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201008126	chr11:24284723-24284724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370022274	chr11:24284748-24284749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189886077	chr11:24284759-24284760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530497780	chr11:24284885-24284886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149901229	chr11:24284937-24284938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567008021	chr11:24284940-24284941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11824883	chr11:24284952-24284953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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	22037309	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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