Variant report

Variant	nsv1008889
Chromosome Location	chr4:93555552-93622621
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	chr4:93562588-93562886	IMR90	lung:	n/a	n/a
2	CEBPB	chr4:93592781-93592941	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr4:93582745-93582936	HepG2	liver:	n/a	chr4:93582923-93582932 chr4:93582923-93582934
4	CEBPB	chr4:93566317-93566624	IMR90	lung:	n/a	chr4:93566463-93566474
5	CEBPB	chr4:93566305-93566601	Hela-S3	cervix:	n/a	chr4:93566463-93566474
6	CEBPB	chr4:93591113-93591283	K562	blood:	n/a	chr4:93591137-93591150
7	CEBPB	chr4:93594437-93594615	K562	blood:	n/a	chr4:93594475-93594486
8	CEBPB	chr4:93566293-93566637	HepG2	liver:	n/a	chr4:93566463-93566474
9	CEBPB	chr4:93566345-93566620	K562	blood:	n/a	chr4:93566463-93566474
10	CEBPB	chr4:93566337-93566613	H1-hESC	embryonic stem cell:	n/a	chr4:93566463-93566474
11	CEBPB	chr4:93569424-93569686	HepG2	liver:	n/a	chr4:93569576-93569587
12	CEBPB	chr4:93594339-93594550	HepG2	liver:	n/a	chr4:93594475-93594486
13	CTCF	chr4:93572960-93573110	GM12872	blood:	n/a	n/a
14	CTCF	chr4:93619226-93619317	Gliobla	brain:	n/a	n/a
15	CTCF	chr4:93598780-93598930	AG10803	skin:	n/a	n/a
16	CTCF	chr4:93555642-93555675	Lung_OC	lung:	n/a	n/a
17	CTCF	chr4:93619206-93619306	MCF-7	breast:	n/a	n/a
18	CTCF	chr4:93557934-93557948	Kidney_OC	kidney:	n/a	n/a
19	E2F4	chr4:93566447-93566647	MCF10A-Er-Src	breast:	n/a	n/a
20	EP300	chr4:93579525-93579769	SK-N-SH_RA	brain:	n/a	chr4:93579551-93579561
21	EP300	chr4:93557253-93557477	SK-N-SH_RA	brain:	n/a	n/a
22	EP300	chr4:93620338-93620627	SK-N-SH_RA	brain:	n/a	n/a
23	EP300	chr4:93620319-93620639	SK-N-SH_RA	brain:	n/a	n/a
24	EP300	chr4:93620100-93620930	SK-N-SH	brain:	n/a	n/a
25	EP300	chr4:93578482-93580134	SK-N-SH	brain:	n/a	chr4:93579551-93579561 chr4:93578740-93578747 chr4:93578780-93578794 chr4:93579806-93579820
26	EP300	chr4:93557248-93557458	SK-N-SH_RA	brain:	n/a	n/a
27	FAM48A	chr4:93617401-93617506	GM12878	blood:	n/a	n/a
28	FAM48A	chr4:93567701-93567798	GM12878	blood:	n/a	n/a
29	FAM48A	chr4:93582586-93582706	GM12878	blood:	n/a	n/a
30	FOS	chr4:93568087-93568472	MCF10A-Er-Src	breast:	n/a	n/a
31	FOXA1	chr4:93572913-93573147	HepG2	liver:	n/a	n/a
32	FOXA1	chr4:93572875-93573181	HepG2	liver:	n/a	n/a
33	FOXA2	chr4:93572923-93573077	HepG2	liver:	n/a	n/a
34	FOXP2	chr4:93565458-93565672	SK-N-MC	brain:	n/a	n/a
35	GATA2	chr4:93557226-93557514	SH-SY5Y	brain:	n/a	n/a
36	GATA2	chr4:93578859-93579251	SH-SY5Y	brain:	n/a	chr4:93579113-93579134
37	GATA3	chr4:93606341-93606517	SH-SY5Y	brain:	n/a	n/a
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	chr4:93568118-93568488	MCF-7	breast:	n/a	n/a
41	GATA3	chr4:93607261-93607378	SH-SY5Y	brain:	n/a	n/a
42	GATA3	chr4:93561648-93561848	SH-SY5Y	brain:	n/a	n/a
43	GATA3	chr4:93578779-93579302	SH-SY5Y	brain:	n/a	chr4:93579113-93579134
44	JUN	chr4:93577942-93578096	HepG2	liver:	n/a	chr4:93577984-93577997 chr4:93577988-93577997
45	JUN	chr4:93562643-93562891	HepG2	liver:	n/a	chr4:93562760-93562773
46	JUN	chr4:93598134-93598273	H1-hESC	embryonic stem cell:	n/a	n/a
47	JUN	chr4:93567755-93567757	H1-hESC	embryonic stem cell:	n/a	n/a
48	JUN	chr4:93569450-93569460	H1-hESC	embryonic stem cell:	n/a	n/a
49	JUND	chr4:93562614-93562895	HepG2	liver:	n/a	n/a
50	MAFF	chr4:93589651-93589919	HepG2	liver:	n/a	chr4:93589776-93589794

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: 2849 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:2849 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532452218	chr4:93555595-93555596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529065531	chr4:93555621-93555622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569841307	chr4:93555628-93555629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532099173	chr4:93555678-93555679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552329657	chr4:93555679-93555680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377673849	chr4:93555704-93555705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369587094	chr4:93555712-93555713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74687727	chr4:93555767-93555768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534566380	chr4:93555825-93555826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs62309165	chr4:93555855-93555856	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs568615212	chr4:93555883-93555884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76187610	chr4:93555898-93555899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs3077529	chr4:93555913-93555914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550555336	chr4:93555915-93555916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537760122	chr4:93555931-93555932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185432318	chr4:93555949-93555950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188595108	chr4:93555998-93555999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368477049	chr4:93556008-93556009	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs113290836	chr4:93556010-93556011	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs71682478	chr4:93556011-93556012	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs372830714	chr4:93556024-93556025	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs76214299	chr4:93556026-93556027	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs76627802	chr4:93556028-93556029	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs71647592	chr4:93556030-93556031	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs70942918	chr4:93556049-93556050	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs568844674	chr4:93556092-93556093	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs150459065	chr4:93556209-93556210	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs185277521	chr4:93556210-93556211	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs538902637	chr4:93556218-93556219	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs189895643	chr4:93556244-93556245	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs182216879	chr4:93556246-93556247	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs899469	chr4:93556266-93556267	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs138254087	chr4:93556275-93556276	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs201216935	chr4:93556364-93556365	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs369626197	chr4:93556365-93556366	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs377111422	chr4:93556370-93556371	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs187309397	chr4:93556396-93556397	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs149065325	chr4:93556417-93556418	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs143067988	chr4:93556450-93556451	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs369590846	chr4:93556463-93556464	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs532383137	chr4:93556503-93556504	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs552417970	chr4:93556528-93556529	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs565754410	chr4:93556603-93556604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138687320	chr4:93556609-93556610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566854978	chr4:93556642-93556643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547838858	chr4:93556643-93556644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373991131	chr4:93556673-93556674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370137421	chr4:93556679-93556680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534213748	chr4:93556684-93556685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142696134	chr4:93556685-93556686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93550000-93574800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:93551800-93556200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:93552000-93579000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:93554000-93556000	Weak transcription	Fetal Brain Male	brain
5	chr4:93554400-93570400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr4:93554600-93556200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr4:93555200-93556200	Enhancers	Brain Germinal Matrix	brain
8	chr4:93555200-93559200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr4:93555400-93555600	Enhancers	Brain Substantia Nigra	brain
10	chr4:93555400-93555800	Enhancers	Brain Angular Gyrus	brain
11	chr4:93555400-93556400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:93555400-93557200	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr4:93555600-93555800	Enhancers	Fetal Brain Female	brain
14	chr4:93555600-93556000	Enhancers	Brain Cingulate Gyrus	brain
15	chr4:93555800-93556200	Weak transcription	Brain Angular Gyrus	brain
16	chr4:93555800-93557400	Weak transcription	Brain Substantia Nigra	brain
17	chr4:93556000-93556400	Active TSS	Brain Anterior Caudate	brain
18	chr4:93556000-93556600	Active TSS	Brain Cingulate Gyrus	brain
19	chr4:93556000-93556600	Enhancers	Fetal Brain Male	brain
20	chr4:93556200-93556400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr4:93556200-93556400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr4:93556200-93556400	Enhancers	Brain Angular Gyrus	brain
23	chr4:93556200-93556800	Weak transcription	Fetal Brain Female	brain
24	chr4:93556200-93557200	Weak transcription	Brain Germinal Matrix	brain
25	chr4:93556400-93556800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:93556400-93557200	Weak transcription	Brain Angular Gyrus	brain
27	chr4:93556400-93557400	Weak transcription	Brain Anterior Caudate	brain
28	chr4:93556600-93557200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr4:93556600-93557200	Weak transcription	Fetal Brain Male	brain
30	chr4:93556800-93559200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:93557000-93558000	Enhancers	Fetal Brain Female	brain
32	chr4:93557200-93557400	Enhancers	Brain Hippocampus Middle	brain
33	chr4:93557200-93557600	Enhancers	Brain Cingulate Gyrus	brain
34	chr4:93557200-93557800	Active TSS	Brain Angular Gyrus	brain
35	chr4:93557200-93557800	Enhancers	Fetal Stomach	stomach
36	chr4:93557200-93558000	Enhancers	Brain Germinal Matrix	brain
37	chr4:93557200-93558000	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr4:93557200-93558000	Enhancers	Fetal Brain Male	brain
39	chr4:93557400-93557800	Active TSS	Brain Substantia Nigra	brain
40	chr4:93557400-93558000	Enhancers	Brain Anterior Caudate	brain
41	chr4:93557400-93558000	Enhancers	Fetal Intestine Small	intestine
42	chr4:93557600-93557800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:93557600-93558000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:93557600-93558000	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr4:93557800-93558000	Enhancers	Brain Substantia Nigra	brain
46	chr4:93557800-93558200	Enhancers	Brain Angular Gyrus	brain
47	chr4:93557800-93560600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:93558000-93558800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr4:93558000-93559000	Enhancers	Brain Cingulate Gyrus	brain
50	chr4:93558200-93558800	Weak transcription	Brain Angular Gyrus	brain

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