Variant report

Variant	esv2761671
Chromosome Location	chr11:49359619-49414562
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	chr11:49386995-49387262	Hela-S3	cervix:	n/a	chr11:49387090-49387107
2	CEBPB	chr11:49377197-49377351	K562	blood:	n/a	chr11:49377237-49377248
3	CEBPB	chr11:49386995-49387243	A549	lung:	n/a	chr11:49387090-49387107
4	CEBPB	chr11:49387001-49387231	IMR90	lung:	n/a	chr11:49387090-49387107
5	CEBPB	chr11:49410762-49410940	HepG2	liver:	n/a	n/a
6	CTCF	chr11:49393764-49393987	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr11:49393822-49393962	HepG2	liver:	n/a	n/a
8	CTCF	chr11:49393780-49393930	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr11:49393843-49393975	MCF-7	breast:	n/a	n/a
10	CTCF	chr11:49393840-49393990	HUVEC	blood vessel:	n/a	n/a
11	CTCF	chr11:49404186-49404276	MCF-7	breast:	n/a	n/a
12	CTCF	chr11:49393842-49393981	Medullo	brain:	n/a	n/a
13	CTCF	chr11:49396798-49396833	GM13977	blood:	n/a	n/a
14	CTCF	chr11:49393798-49394028	GM12878	blood:	n/a	n/a
15	CTCF	chr11:49393854-49393987	GM13977	blood:	n/a	n/a
16	CTCF	chr11:49393843-49393986	Lung_OC	lung:	n/a	n/a
17	CTCF	chr11:49383384-49383451	GM10248	blood:	n/a	n/a
18	CTCF	chr11:49366554-49366659	GM10248	blood:	n/a	n/a
19	CTCF	chr11:49393800-49393950	GM12872	blood:	n/a	n/a
20	CTCF	chr11:49393874-49393919	GM20000	blood:	n/a	n/a
21	CTCF	chr11:49393815-49393995	Spleen_OC	spleen:	n/a	n/a
22	CTCF	chr11:49393808-49393948	HepG2	liver:	n/a	n/a
23	CTCF	chr11:49393789-49393996	MCF-7	breast:	n/a	n/a
24	CTCF	chr11:49393845-49393941	GM10266	blood:	n/a	n/a
25	CTCF	chr11:49393873-49393876	GM10248	blood:	n/a	n/a
26	CTCF	chr11:49393800-49393950	MCF-7	breast:	n/a	n/a
27	CTCF	chr11:49393800-49393950	RPTEC	kidney:	n/a	n/a
28	CTCF	chr11:49393840-49393965	Pancreas_OC	pancreas:	n/a	n/a
29	CTCF	chr11:49414325-49414401	LNCaP	prostate:	n/a	n/a
30	CTCF	chr11:49396707-49396731	GM10248	blood:	n/a	n/a
31	CTCF	chr11:49393720-49393870	NHEK	skin:	n/a	n/a
32	CTCF	chr11:49393740-49393890	GM12872	blood:	n/a	n/a
33	CTCF	chr11:49393798-49393988	GM12878	blood:	n/a	n/a
34	CTCF	chr11:49393580-49393870	MCF-7	breast:	n/a	n/a
35	CTCF	chr11:49393749-49394019	HUVEC	blood vessel:	n/a	n/a
36	CTCF	chr11:49393720-49393870	RPTEC	kidney:	n/a	n/a
37	CTCF	chr11:49397517-49397556	Fibrobl	skin:	n/a	n/a
38	CTCF	chr11:49393804-49393971	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr11:49393882-49393921	GM10248	blood:	n/a	n/a
40	CTCF	chr11:49374420-49374570	GM12864	blood:	n/a	n/a
41	CTCF	chr11:49393820-49393991	LNCaP	prostate:	n/a	n/a
42	CTCF	chr11:49393799-49393995	LNCaP	prostate:	n/a	n/a
43	E2F4	chr11:49380393-49380480	MCF10A-Er-Src	breast:	n/a	n/a
44	E2F4	chr11:49392555-49392755	MCF10A-Er-Src	breast:	n/a	n/a
45	E2F4	chr11:49360415-49360778	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F4	chr11:49381100-49381219	MCF10A-Er-Src	breast:	n/a	n/a
47	ELK1	chr11:49395581-49395738	Hela-S3	cervix:	n/a	n/a
48	EP300	chr11:49394897-49394918	K562	blood:	n/a	n/a
49	EP300	chr11:49391381-49391521	Hela-S3	cervix:	n/a	n/a
50	FOS	chr11:49395465-49395773	MCF10A-Er-Src	breast:	n/a	chr11:49395566-49395578 chr11:49395596-49395606 chr11:49395596-49395606 chr11:49395596-49395606 chr11:49395597-49395605 chr11:49395584-49395595 chr11:49395596-49395606

Variant related genes	Relation type
ENSG00000255532	TF binding region

Extended variants
information (count: 1139 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:1139 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569927901	chr11:49363037-49363038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181188326	chr11:49363082-49363083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560243665	chr11:49363083-49363084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376264472	chr11:49363104-49363105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11040342	chr11:49363115-49363116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565844499	chr11:49363121-49363122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560375226	chr11:49363133-49363134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534833939	chr11:49363153-49363154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527517218	chr11:49363159-49363160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376908879	chr11:49363186-49363187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554260773	chr11:49363211-49363212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577306967	chr11:49363230-49363231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144976571	chr11:49363249-49363250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545287969	chr11:49363304-49363305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs3960821	chr11:49363307-49363308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576660350	chr11:49363336-49363337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2866357	chr11:49363368-49363369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11040343	chr11:49363371-49363372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs3974677	chr11:49363377-49363378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs3974678	chr11:49363378-49363379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563852580	chr11:49382668-49382669	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs531977780	chr11:49382761-49382762	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs9736487	chr11:49383392-49383393	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs545512792	chr11:49383393-49383394	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs562118844	chr11:49383395-49383396	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs187688796	chr11:49383401-49383402	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs548147414	chr11:49383412-49383413	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs140890537	chr11:49383442-49383443	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs569878477	chr11:49384408-49384409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78413015	chr11:49384417-49384418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs56397582	chr11:49384422-49384423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576984573	chr11:49384424-49384425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571428095	chr11:49384451-49384452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539687513	chr11:49384491-49384492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138525404	chr11:49384563-49384564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576119364	chr11:49384670-49384671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541573030	chr11:49384677-49384678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529076735	chr11:49384684-49384685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112518492	chr11:49384736-49384737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs386373814	chr11:49384746-49384747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs33995936	chr11:49384760-49384761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs3081378	chr11:49384761-49384762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs199707730	chr11:49384762-49384763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113784464	chr11:49384765-49384766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189189677	chr11:49384800-49384801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564411827	chr11:49384920-49384921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538753251	chr11:49384921-49384922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533156596	chr11:49384943-49384944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181947923	chr11:49384944-49384945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184994396	chr11:49384972-49384973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49363000-49363400	Enhancers	Ovary	ovary
2	chr11:49384400-49384800	Enhancers	Ovary	ovary
3	chr11:49384800-49386200	Weak transcription	Ovary	ovary
4	chr11:49386200-49386600	Enhancers	Ovary	ovary
5	chr11:49386200-49387800	Enhancers	Liver	Liver
6	chr11:49386800-49387600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:49387800-49389800	Weak transcription	Liver	Liver
8	chr11:49389800-49390600	Enhancers	Liver	Liver
9	chr11:49390200-49395000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:49390600-49399400	Weak transcription	Liver	Liver
11	chr11:49394000-49394200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr11:49394200-49395600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:49394200-49395600	Enhancers	Fetal Heart	heart
14	chr11:49395000-49395800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:49395600-49396000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr11:49395600-49396000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr11:49395600-49396000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr11:49395600-49396000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr11:49396000-49399600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:49399400-49399600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:49399400-49399800	Enhancers	Liver	Liver
22	chr11:49399400-49400000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr11:49399600-49399800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:49399600-49400000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr11:49399800-49404800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:49404800-49405000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:49405000-49408000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:49406600-49407400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr11:49408000-49408400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:49408400-49410400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:49410400-49413200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:49410600-49410800	Enhancers	Brain Substantia Nigra	brain
33	chr11:49410600-49411200	Enhancers	Fetal Heart	heart
34	chr11:49410600-49411600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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