Variant report

Variant	nsv879566
Chromosome Location	chr4:92215966-92322333
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	BATF	chr4:92279590-92279870	GM12878	blood:	n/a	n/a
2	BATF	chr4:92279593-92279805	GM12878	blood:	n/a	n/a
3	BATF	chr4:92280369-92280568	GM12878	blood:	n/a	n/a
4	BATF	chr4:92246684-92246980	GM12878	blood:	n/a	n/a
5	BATF	chr4:92246616-92246958	GM12878	blood:	n/a	n/a
6	BCL11A	chr4:92279611-92279846	GM12878	blood:	n/a	n/a
7	BHLHE40	chr4:92294742-92295009	GM12878	blood:	n/a	n/a
8	BHLHE40	chr4:92264987-92264999	GM12878	blood:	n/a	n/a
9	BHLHE40	chr4:92223302-92223415	GM12878	blood:	n/a	n/a
10	CEBPB	chr4:92272244-92272571	IMR90	lung:	n/a	chr4:92272388-92272399 chr4:92272386-92272399 chr4:92272386-92272397 chr4:92272388-92272397
11	CEBPB	chr4:92312781-92312966	A549	lung:	n/a	chr4:92312859-92312870
12	CEBPB	chr4:92297229-92297583	IMR90	lung:	n/a	chr4:92297393-92297404
13	CEBPB	chr4:92297357-92297424	H1-hESC	embryonic stem cell:	n/a	chr4:92297393-92297404
14	CEBPB	chr4:92260282-92260576	HepG2	liver:	n/a	chr4:92260436-92260447
15	CEBPB	chr4:92312751-92312980	HepG2	liver:	n/a	chr4:92312859-92312870
16	CEBPB	chr4:92272267-92272556	HepG2	liver:	n/a	chr4:92272388-92272399 chr4:92272386-92272399 chr4:92272386-92272397 chr4:92272388-92272397
17	CEBPB	chr4:92297294-92297549	A549	lung:	n/a	chr4:92297393-92297404
18	CEBPB	chr4:92272250-92272485	K562	blood:	n/a	chr4:92272388-92272399 chr4:92272386-92272399 chr4:92272386-92272397 chr4:92272388-92272397
19	CEBPB	chr4:92258443-92258660	HepG2	liver:	n/a	n/a
20	CEBPB	chr4:92297222-92297557	HepG2	liver:	n/a	chr4:92297393-92297404
21	CEBPB	chr4:92313543-92313708	H1-hESC	embryonic stem cell:	n/a	chr4:92313648-92313661 chr4:92313650-92313661 chr4:92313648-92313661 chr4:92313648-92313661 chr4:92313648-92313659
22	CEBPB	chr4:92313557-92313782	HepG2	liver:	n/a	chr4:92313648-92313661 chr4:92313650-92313661 chr4:92313648-92313661 chr4:92313648-92313661 chr4:92313648-92313659
23	CHD2	chr4:92223402-92223554	GM12878	blood:	n/a	n/a
24	CHD2	chr4:92258506-92258507	GM12878	blood:	n/a	n/a
25	CTCF	chr4:92224307-92224326	GM10266	blood:	n/a	n/a
26	CTCF	chr4:92236120-92236270	HVMF	connective:	n/a	n/a
27	CTCF	chr4:92237937-92237962	GM20000	blood:	n/a	n/a
28	CTCF	chr4:92278078-92278131	Kidney_OC	kidney:	n/a	n/a
29	CTCF	chr4:92287909-92287952	GM13976	blood:	n/a	n/a
30	CTCF	chr4:92247480-92247630	GM12874	blood:	n/a	n/a
31	CTCF	chr4:92271120-92271270	AoAF	blood vessel:	n/a	n/a
32	CTCF	chr4:92303802-92303848	GM10266	blood:	n/a	n/a
33	CTCF	chr4:92247623-92247698	GM13976	blood:	n/a	n/a
34	CTCF	chr4:92280494-92280526	Kidney_OC	kidney:	n/a	n/a
35	CTCF	chr4:92263350-92263410	Medullo	brain:	n/a	n/a
36	CUX1	chr4:92217982-92218053	GM12878	blood:	n/a	n/a
37	CUX1	chr4:92307977-92307993	GM12878	blood:	n/a	n/a
38	CUX1	chr4:92312101-92312108	GM12878	blood:	n/a	n/a
39	E2F4	chr4:92309054-92309252	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F4	chr4:92274005-92274091	MCF10A-Er-Src	breast:	n/a	n/a
41	E2F4	chr4:92296506-92296637	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F4	chr4:92304670-92304870	MCF10A-Er-Src	breast:	n/a	n/a
43	E2F4	chr4:92225103-92225323	MCF10A-Er-Src	breast:	n/a	n/a
44	E2F4	chr4:92259567-92259767	MCF10A-Er-Src	breast:	n/a	n/a
45	EBF1	chr4:92279638-92279924	GM12878	blood:	n/a	n/a
46	EBF1	chr4:92320307-92320422	GM12878	blood:	n/a	chr4:92320340-92320349 chr4:92320338-92320351 chr4:92320340-92320350 chr4:92320338-92320349
47	EBF1	chr4:92279631-92279782	GM12878	blood:	n/a	n/a
48	EBF1	chr4:92285048-92285052	GM12878	blood:	n/a	n/a
49	EBF1	chr4:92283345-92283373	GM12878	blood:	n/a	n/a
50	EBF1	chr4:92266985-92267004	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:92313682..92316029-chr4:92318721..92321306,2	MCF-7	breast:
2	chr4:92228930..92230474-chr4:92239556..92242007,2	K562	blood:
3	chr4:92256031..92258951-chr4:92265643..92267671,2	MCF-7	breast:
4	chr4:92313682..92316029-chr4:92318721..92321306,2	MCF-7	breast:
5	chr4:92256031..92258951-chr4:92265643..92267671,2	MCF-7	breast:
6	chr4:92249209..92252138-chr4:92252795..92255607,2	MCF-7	breast:
7	chr4:92249209..92252138-chr4:92252795..92255607,2	MCF-7	breast:
8	chr4:92228930..92230474-chr4:92239556..92242007,2	K562	blood:

Variant related genes	Relation type
ENSG00000249049	TF binding region

Extended variants
information (count: 706 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:706 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76793347	chr4:92218209-92218210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188299310	chr4:92218311-92218312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555458105	chr4:92218312-92218313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10033018	chr4:92218323-92218324	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
5	rs143806606	chr4:92218334-92218335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375853021	chr4:92218375-92218376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34754865	chr4:92218390-92218391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs193289230	chr4:92218402-92218403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577774405	chr4:92218404-92218405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545502860	chr4:92218415-92218416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185626651	chr4:92218428-92218429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs151098732	chr4:92218488-92218489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115087830	chr4:92218496-92218497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530872882	chr4:92218498-92218499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548767071	chr4:92218509-92218510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550596131	chr4:92218523-92218524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10011254	chr4:92218526-92218527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377247979	chr4:92218532-92218533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145852255	chr4:92218533-92218534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6834487	chr4:92218536-92218537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369072843	chr4:92218537-92218538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201802331	chr4:92218546-92218547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533116617	chr4:92218556-92218557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547140487	chr4:92218560-92218561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs59301474	chr4:92218570-92218571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189227816	chr4:92218572-92218573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs57164334	chr4:92218574-92218575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190562464	chr4:92231005-92231006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572245144	chr4:92231036-92231037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144219084	chr4:92231040-92231041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541133750	chr4:92231046-92231047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560792127	chr4:92231173-92231174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376357436	chr4:92231192-92231193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116542032	chr4:92231201-92231202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543056521	chr4:92231205-92231206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562943739	chr4:92231213-92231214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11737005	chr4:92231221-92231222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550006845	chr4:92231229-92231230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559516108	chr4:92231235-92231236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539421988	chr4:92231241-92231242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548345304	chr4:92231249-92231250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182285090	chr4:92231264-92231265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377511607	chr4:92231273-92231274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371211017	chr4:92231288-92231289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570812552	chr4:92231294-92231295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11725743	chr4:92231314-92231315	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs184481096	chr4:92231328-92231329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567074401	chr4:92231342-92231343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535696570	chr4:92231345-92231346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189509708	chr4:92231380-92231381	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92218200-92218600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:92218200-92218600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:92231000-92231400	Enhancers	Gastric	stomach
4	chr4:92234600-92235000	Enhancers	Adipose Nuclei	Adipose
5	chr4:92236200-92236800	Enhancers	Fetal Heart	heart
6	chr4:92236800-92238600	Weak transcription	Fetal Heart	heart
7	chr4:92238600-92239000	Enhancers	Fetal Heart	heart
8	chr4:92240400-92241000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:92240600-92241200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr4:92241200-92241800	Enhancers	Brain Germinal Matrix	brain
11	chr4:92246200-92246800	Enhancers	NH-A	brain
12	chr4:92246200-92247000	Enhancers	HUVEC	blood vessel
13	chr4:92247400-92248600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr4:92247800-92248800	ZNF genes & repeats	Fetal Intestine Small	intestine
15	chr4:92247800-92249200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:92248000-92248400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:92248000-92248400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr4:92248000-92248400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr4:92248000-92248600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:92248600-92249000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
21	chr4:92251800-92252200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:92252000-92252400	Enhancers	NH-A	brain
23	chr4:92276400-92279800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:92279800-92280200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:92279800-92280200	Enhancers	Pancreas	Pancrea
26	chr4:92279800-92281000	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr4:92290000-92290600	Enhancers	Fetal Kidney	kidney
28	chr4:92303200-92303800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:92303200-92304000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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