Variant report

Variant	esv3432456
Chromosome Location	chr4:21577920-21580794
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	chr4:21578881-21579034	HepG2	liver:	n/a	chr4:21578923-21578934 chr4:21578925-21578936 chr4:21578923-21578936

Variant related genes	Relation type
ENSG00000250092	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566241113	chr4:21577940-21577941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533596555	chr4:21577967-21577968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116009448	chr4:21577992-21577993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34413196	chr4:21578900-21578901	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs547379668	chr4:21578943-21578944	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs553348856	chr4:21578977-21578978	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs368872683	chr4:21578985-21578986	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs540398115	chr4:21578990-21578991	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs565494811	chr4:21578991-21578992	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs565402992	chr4:21579012-21579013	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs577235237	chr4:21579044-21579045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141785459	chr4:21579051-21579052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562699149	chr4:21579106-21579107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530373575	chr4:21579115-21579116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs13114229	chr4:21579133-21579134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369504752	chr4:21579145-21579146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548465717	chr4:21579160-21579161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559751693	chr4:21579171-21579172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527258066	chr4:21579189-21579190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551852884	chr4:21579208-21579209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570535797	chr4:21579240-21579241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs137916391	chr4:21579257-21579258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201032493	chr4:21579260-21579261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs36186672	chr4:21579268-21579269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573919315	chr4:21579269-21579270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537495764	chr4:21579281-21579282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs59806030	chr4:21579283-21579284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191994560	chr4:21579284-21579285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547339298	chr4:21579311-21579312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs17549542	chr4:21579327-21579328	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs568249542	chr4:21579331-21579332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139306711	chr4:21579342-21579343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11942368	chr4:21580223-21580224	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs187454859	chr4:21580247-21580248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554025579	chr4:21580263-21580264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537102473	chr4:21580304-21580305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557082779	chr4:21580377-21580378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572745571	chr4:21580419-21580420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144188686	chr4:21580451-21580452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564140455	chr4:21580511-21580512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531182597	chr4:21580548-21580549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543412280	chr4:21580554-21580555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561780416	chr4:21580560-21580561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528957683	chr4:21580561-21580562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192053988	chr4:21580578-21580579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73252260	chr4:21580673-21580674	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs533300694	chr4:21580676-21580677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551371887	chr4:21580684-21580685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376141233	chr4:21580702-21580703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537872743	chr4:21580707-21580708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21577600-21578000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr4:21579000-21579200	Enhancers	Fetal Heart	heart
3	chr4:21579000-21579400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:21580200-21580600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:21580200-21580800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:21580600-21584400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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