Variant report

Variant	nsv999973
Chromosome Location	chr4:93553282-93622621
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	chr4:93566293-93566637	HepG2	liver:	n/a	chr4:93566463-93566474
2	CEBPB	chr4:93582745-93582936	HepG2	liver:	n/a	chr4:93582923-93582932 chr4:93582923-93582934
3	CEBPB	chr4:93566345-93566620	K562	blood:	n/a	chr4:93566463-93566474
4	CEBPB	chr4:93594339-93594550	HepG2	liver:	n/a	chr4:93594475-93594486
5	CEBPB	chr4:93566337-93566613	H1-hESC	embryonic stem cell:	n/a	chr4:93566463-93566474
6	CEBPB	chr4:93592781-93592941	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr4:93569424-93569686	HepG2	liver:	n/a	chr4:93569576-93569587
8	CEBPB	chr4:93553461-93553667	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr4:93566305-93566601	Hela-S3	cervix:	n/a	chr4:93566463-93566474
10	CEBPB	chr4:93594437-93594615	K562	blood:	n/a	chr4:93594475-93594486
11	CEBPB	chr4:93566317-93566624	IMR90	lung:	n/a	chr4:93566463-93566474
12	CEBPB	chr4:93562588-93562886	IMR90	lung:	n/a	n/a
13	CEBPB	chr4:93591113-93591283	K562	blood:	n/a	chr4:93591137-93591150
14	CTCF	chr4:93572960-93573110	GM12872	blood:	n/a	n/a
15	CTCF	chr4:93619206-93619306	MCF-7	breast:	n/a	n/a
16	CTCF	chr4:93555642-93555675	Lung_OC	lung:	n/a	n/a
17	CTCF	chr4:93619226-93619317	Gliobla	brain:	n/a	n/a
18	CTCF	chr4:93598780-93598930	AG10803	skin:	n/a	n/a
19	CTCF	chr4:93557934-93557948	Kidney_OC	kidney:	n/a	n/a
20	E2F4	chr4:93566447-93566647	MCF10A-Er-Src	breast:	n/a	n/a
21	EP300	chr4:93620319-93620639	SK-N-SH_RA	brain:	n/a	n/a
22	EP300	chr4:93578482-93580134	SK-N-SH	brain:	n/a	chr4:93579551-93579561 chr4:93578740-93578747 chr4:93578780-93578794 chr4:93579806-93579820
23	EP300	chr4:93557253-93557477	SK-N-SH_RA	brain:	n/a	n/a
24	EP300	chr4:93620338-93620627	SK-N-SH_RA	brain:	n/a	n/a
25	EP300	chr4:93620100-93620930	SK-N-SH	brain:	n/a	n/a
26	EP300	chr4:93579525-93579769	SK-N-SH_RA	brain:	n/a	chr4:93579551-93579561
27	EP300	chr4:93557248-93557458	SK-N-SH_RA	brain:	n/a	n/a
28	FAM48A	chr4:93617401-93617506	GM12878	blood:	n/a	n/a
29	FAM48A	chr4:93567701-93567798	GM12878	blood:	n/a	n/a
30	FAM48A	chr4:93582586-93582706	GM12878	blood:	n/a	n/a
31	FOS	chr4:93568087-93568472	MCF10A-Er-Src	breast:	n/a	n/a
32	FOXA1	chr4:93572913-93573147	HepG2	liver:	n/a	n/a
33	FOXA1	chr4:93572875-93573181	HepG2	liver:	n/a	n/a
34	FOXA2	chr4:93572923-93573077	HepG2	liver:	n/a	n/a
35	FOXP2	chr4:93565458-93565672	SK-N-MC	brain:	n/a	n/a
36	GATA2	chr4:93557226-93557514	SH-SY5Y	brain:	n/a	n/a
37	GATA2	chr4:93578859-93579251	SH-SY5Y	brain:	n/a	chr4:93579113-93579134
38	GATA3	chr4:93568193-93568437	SH-SY5Y	brain:	n/a	n/a
39	GATA3	chr4:93620700-93620809	SH-SY5Y	brain:	n/a	n/a
40	GATA3	chr4:93606341-93606517	SH-SY5Y	brain:	n/a	n/a
41	GATA3	chr4:93561648-93561848	SH-SY5Y	brain:	n/a	n/a
42	GATA3	chr4:93578779-93579302	SH-SY5Y	brain:	n/a	chr4:93579113-93579134
43	GATA3	chr4:93607261-93607378	SH-SY5Y	brain:	n/a	n/a
44	GATA3	chr4:93568118-93568488	MCF-7	breast:	n/a	n/a
45	JUN	chr4:93567755-93567757	H1-hESC	embryonic stem cell:	n/a	n/a
46	JUN	chr4:93569450-93569460	H1-hESC	embryonic stem cell:	n/a	n/a
47	JUN	chr4:93598134-93598273	H1-hESC	embryonic stem cell:	n/a	n/a
48	JUN	chr4:93562643-93562891	HepG2	liver:	n/a	chr4:93562760-93562773
49	JUN	chr4:93577942-93578096	HepG2	liver:	n/a	chr4:93577984-93577997 chr4:93577988-93577997
50	JUND	chr4:93562614-93562895	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:93577929..93580454-chr4:93584774..93587320,2	K562	blood:
2	chr4:93577929..93580454-chr4:93584774..93587320,2	K562	blood:

Variant related genes	Relation type
MTND1P19	TF binding region

Extended variants
information (count: 2960 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:2960 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184066354	chr4:93553284-93553285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs17019712	chr4:93553317-93553318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs570125613	chr4:93553356-93553357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537752824	chr4:93553372-93553373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370240405	chr4:93553377-93553378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs970405	chr4:93553378-93553379	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs577463643	chr4:93553393-93553394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546513085	chr4:93553409-93553410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539918707	chr4:93553416-93553417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374949754	chr4:93553422-93553423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553487163	chr4:93553430-93553431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573419137	chr4:93553435-93553436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188511510	chr4:93553444-93553445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562350679	chr4:93553451-93553452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531988796	chr4:93553462-93553463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191601614	chr4:93553464-93553465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs72482248	chr4:93553635-93553636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371857753	chr4:93553660-93553661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565470661	chr4:93553681-93553682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527914380	chr4:93553715-93553716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547895164	chr4:93553731-93553732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567882355	chr4:93553749-93553750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567726314	chr4:93553755-93553756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535665069	chr4:93553765-93553766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530239122	chr4:93553769-93553770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560794433	chr4:93553788-93553789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139452942	chr4:93553794-93553795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550101203	chr4:93553820-93553821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557169913	chr4:93553838-93553839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538140633	chr4:93553841-93553842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142855610	chr4:93553861-93553862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369199464	chr4:93553869-93553870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77799143	chr4:93553876-93553877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539556731	chr4:93553880-93553881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533707654	chr4:93553888-93553889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78587415	chr4:93553916-93553917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553574842	chr4:93553929-93553930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573358181	chr4:93553951-93553952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542370158	chr4:93553953-93553954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556112143	chr4:93553964-93553965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9968392	chr4:93553977-93553978	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs545660843	chr4:93553980-93553981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565610054	chr4:93553990-93553991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62309161	chr4:93554033-93554034	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs371610172	chr4:93554046-93554047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559419817	chr4:93554097-93554098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541608541	chr4:93554129-93554130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs151043355	chr4:93554247-93554248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141200439	chr4:93554269-93554270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62309162	chr4:93554279-93554280	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:90)

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
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Bipolar disorder	19114987	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93547000-93555200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:93550000-93574800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:93551800-93553400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr4:93551800-93553800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:93551800-93554400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr4:93551800-93556200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:93552000-93579000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr4:93552400-93553600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:93553400-93553600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr4:93553400-93553800	Weak transcription	Fetal Brain Male	brain
11	chr4:93553600-93553800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr4:93553600-93554000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr4:93553800-93554000	Enhancers	Fetal Brain Male	brain
14	chr4:93553800-93554200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:93553800-93554400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr4:93553800-93554800	Enhancers	Brain Germinal Matrix	brain
17	chr4:93554000-93554400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr4:93554000-93556000	Weak transcription	Fetal Brain Male	brain
19	chr4:93554200-93554400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr4:93554400-93554600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr4:93554400-93570400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:93554600-93556200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr4:93554800-93555200	Weak transcription	Brain Germinal Matrix	brain
24	chr4:93555200-93556200	Enhancers	Brain Germinal Matrix	brain
25	chr4:93555200-93559200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr4:93555400-93555600	Enhancers	Brain Substantia Nigra	brain
27	chr4:93555400-93555800	Enhancers	Brain Angular Gyrus	brain
28	chr4:93555400-93556400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:93555400-93557200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr4:93555600-93555800	Enhancers	Fetal Brain Female	brain
31	chr4:93555600-93556000	Enhancers	Brain Cingulate Gyrus	brain
32	chr4:93555800-93556200	Weak transcription	Brain Angular Gyrus	brain
33	chr4:93555800-93557400	Weak transcription	Brain Substantia Nigra	brain
34	chr4:93556000-93556400	Active TSS	Brain Anterior Caudate	brain
35	chr4:93556000-93556600	Active TSS	Brain Cingulate Gyrus	brain
36	chr4:93556000-93556600	Enhancers	Fetal Brain Male	brain
37	chr4:93556200-93556400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr4:93556200-93556400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr4:93556200-93556400	Enhancers	Brain Angular Gyrus	brain
40	chr4:93556200-93556800	Weak transcription	Fetal Brain Female	brain
41	chr4:93556200-93557200	Weak transcription	Brain Germinal Matrix	brain
42	chr4:93556400-93556800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr4:93556400-93557200	Weak transcription	Brain Angular Gyrus	brain
44	chr4:93556400-93557400	Weak transcription	Brain Anterior Caudate	brain
45	chr4:93556600-93557200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr4:93556600-93557200	Weak transcription	Fetal Brain Male	brain
47	chr4:93556800-93559200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr4:93557000-93558000	Enhancers	Fetal Brain Female	brain
49	chr4:93557200-93557400	Enhancers	Brain Hippocampus Middle	brain
50	chr4:93557200-93557600	Enhancers	Brain Cingulate Gyrus	brain

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