Variant report

Variant	nsv879613
Chromosome Location	chr4:93800605-93902882
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	ARID3A	chr4:93890976-93891589	HepG2	liver:	n/a	n/a
2	ATF3	chr4:93891072-93891445	A549	lung:	n/a	n/a
3	ATF3	chr4:93891228-93891471	A549	lung:	n/a	n/a
4	BCL3	chr4:93891030-93891647	A549	lung:	n/a	n/a
5	BRCA1	chr4:93890921-93891508	Hela-S3	cervix:	n/a	n/a
6	CBX3	chr4:93891028-93891487	HCT-116	colon:	n/a	n/a
7	CEBPB	chr4:93887980-93888173	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr4:93891066-93891580	A549	lung:	n/a	chr4:93891255-93891266 chr4:93891253-93891264
9	CEBPB	chr4:93890906-93891682	HCT-116	colon:	n/a	chr4:93891255-93891266 chr4:93891253-93891264
10	CEBPB	chr4:93873656-93873916	A549	lung:	n/a	chr4:93873803-93873814 chr4:93873761-93873772 chr4:93873801-93873812
11	CEBPB	chr4:93891027-93891462	HCT-116	colon:	n/a	chr4:93891255-93891266 chr4:93891253-93891264
12	CEBPB	chr4:93901178-93901344	K562	blood:	n/a	chr4:93901280-93901291
13	CEBPB	chr4:93891086-93891438	H1-hESC	embryonic stem cell:	n/a	chr4:93891255-93891266 chr4:93891253-93891264
14	CEBPB	chr4:93890872-93891520	HepG2	liver:	n/a	chr4:93891255-93891266 chr4:93891253-93891264
15	CEBPB	chr4:93890512-93891528	Hela-S3	cervix:	n/a	chr4:93891255-93891266 chr4:93891253-93891264
16	CEBPB	chr4:93891027-93891542	MCF-7	breast:	n/a	chr4:93891255-93891266 chr4:93891253-93891264
17	CEBPB	chr4:93890804-93891725	MCF-7	breast:	n/a	chr4:93891255-93891266 chr4:93891253-93891264
18	CEBPB	chr4:93901011-93901535	MCF-7	breast:	n/a	chr4:93901280-93901291
19	CEBPB	chr4:93891006-93891527	ECC-1	luminal epithelium:	n/a	chr4:93891255-93891266 chr4:93891253-93891264
20	CEBPB	chr4:93891004-93891504	ECC-1	luminal epithelium:	n/a	chr4:93891255-93891266 chr4:93891253-93891264
21	CEBPB	chr4:93891205-93891410	HepG2	liver:	n/a	chr4:93891255-93891266 chr4:93891253-93891264
22	CEBPB	chr4:93847023-93847348	A549	lung:	n/a	n/a
23	CEBPB	chr4:93901111-93901430	IMR90	lung:	n/a	chr4:93901280-93901291
24	CEBPB	chr4:93866144-93866453	HepG2	liver:	n/a	chr4:93866274-93866283 chr4:93866272-93866283
25	CEBPB	chr4:93886193-93886419	HepG2	liver:	n/a	chr4:93886329-93886340
26	CEBPB	chr4:93901112-93901404	HepG2	liver:	n/a	chr4:93901280-93901291
27	CEBPB	chr4:93890904-93891675	A549	lung:	n/a	chr4:93891255-93891266 chr4:93891253-93891264
28	CEBPB	chr4:93891114-93891468	HepG2	liver:	n/a	chr4:93891255-93891266 chr4:93891253-93891264
29	CEBPB	chr4:93891126-93891368	HepG2	liver:	n/a	chr4:93891255-93891266 chr4:93891253-93891264
30	CEBPB	chr4:93891066-93891516	IMR90	lung:	n/a	chr4:93891255-93891266 chr4:93891253-93891264
31	CEBPB	chr4:93806171-93806461	HepG2	liver:	n/a	n/a
32	CEBPB	chr4:93873627-93873920	HepG2	liver:	n/a	chr4:93873803-93873814 chr4:93873761-93873772 chr4:93873801-93873812
33	CEBPB	chr4:93835580-93835776	HepG2	liver:	n/a	chr4:93835654-93835665
34	CEBPB	chr4:93891163-93891402	K562	blood:	n/a	chr4:93891255-93891266 chr4:93891253-93891264
35	CEBPB	chr4:93891071-93891477	A549	lung:	n/a	chr4:93891255-93891266 chr4:93891253-93891264
36	CEBPB	chr4:93847042-93847319	HepG2	liver:	n/a	n/a
37	CHD2	chr4:93891186-93891462	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr4:93805041-93805254	GM12878	blood:	n/a	n/a
39	CTCF	chr4:93807280-93807430	MCF-7	breast:	n/a	n/a
40	CTCF	chr4:93802078-93802118	Kidney_OC	kidney:	n/a	n/a
41	CTCF	chr4:93820547-93820599	GM13976	blood:	n/a	n/a
42	CTCF	chr4:93813258-93813292	GM13976	blood:	n/a	n/a
43	CTCF	chr4:93895817-93895895	LNCaP	prostate:	n/a	n/a
44	CTCF	chr4:93844992-93845024	LNCaP	prostate:	n/a	n/a
45	CTCF	chr4:93885162-93885236	LNCaP	prostate:	n/a	n/a
46	CTCF	chr4:93886601-93886680	K562	blood:	n/a	n/a
47	CTCF	chr4:93831989-93832057	Kidney_OC	kidney:	n/a	n/a
48	E2F4	chr4:93873715-93873920	MCF10A-Er-Src	breast:	n/a	n/a
49	E2F4	chr4:93881283-93881372	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F4	chr4:93834407-93834607	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:93827426..93829042-chr4:93829198..93830745,2	K562	blood:
2	chr4:93846312..93847841-chr4:93851226..93853929,2	K562	blood:
3	chr4:93846312..93847841-chr4:93851226..93853929,2	K562	blood:
4	chr4:93886231..93887821-chr4:93901908..93903959,2	K562	blood:
5	chr4:93757984..93759775-chr4:93817140..93819795,2	MCF-7	breast:
6	chr4:93886231..93887821-chr4:93901908..93903959,2	K562	blood:
7	chr4:93825096..93827296-chr4:93828128..93830318,2	K562	blood:
8	chr4:93825096..93827296-chr4:93828128..93830318,2	K562	blood:
9	chr4:93827426..93829042-chr4:93829198..93830745,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATOH1-1	chr4:93805814-93806258	NONHSAT097436

Variant related genes	Relation type
ENSG00000248750	TF binding region

Extended variants
information (count: 2118 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:2118 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6827937	chr4:93800605-93800606	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112107746	chr4:93800611-93800612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531964805	chr4:93800642-93800643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533403129	chr4:93800658-93800659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550363043	chr4:93800683-93800684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138242942	chr4:93800706-93800707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372690684	chr4:93800727-93800728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373854282	chr4:93800737-93800738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568983478	chr4:93800768-93800769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113097356	chr4:93800810-93800811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559437477	chr4:93800896-93800897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528380063	chr4:93800902-93800903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548090424	chr4:93800930-93800931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149581102	chr4:93800966-93800967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530538258	chr4:93800973-93800974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183815622	chr4:93800983-93800984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570196362	chr4:93800991-93800992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539074271	chr4:93800992-93800993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116023260	chr4:93800994-93800995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567091869	chr4:93801023-93801024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533010910	chr4:93801037-93801038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551452299	chr4:93801049-93801050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536101137	chr4:93801061-93801062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377516108	chr4:93801066-93801067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545356821	chr4:93801127-93801128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144294377	chr4:93801142-93801143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575874244	chr4:93801169-93801170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79686261	chr4:93801257-93801258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558315280	chr4:93801282-93801283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs578143278	chr4:93801295-93801296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540311005	chr4:93801342-93801343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560454982	chr4:93801383-93801384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115597624	chr4:93801477-93801478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542076381	chr4:93801507-93801508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561559234	chr4:93801533-93801534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369900893	chr4:93801560-93801561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148652979	chr4:93801607-93801608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550339602	chr4:93801649-93801650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142166615	chr4:93801672-93801673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533035524	chr4:93801685-93801686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187931012	chr4:93801701-93801702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566384596	chr4:93801704-93801705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190306444	chr4:93801718-93801719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566436754	chr4:93801741-93801742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147416731	chr4:93801743-93801744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182909699	chr4:93801789-93801790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569552642	chr4:93801795-93801796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538489265	chr4:93801798-93801799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558376545	chr4:93801807-93801808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139753907	chr4:93801818-93801819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	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
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93758200-93802200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:93798800-93809600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:93800400-93800800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr4:93800600-93800800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr4:93802000-93802400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:93802200-93802400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr4:93806000-93807400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr4:93806400-93806800	Enhancers	Fetal Brain Male	brain
9	chr4:93806400-93807200	Enhancers	Liver	Liver
10	chr4:93806600-93807400	Enhancers	Adipose Nuclei	Adipose
11	chr4:93809600-93809800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:93818000-93818600	Enhancers	Liver	Liver
13	chr4:93821800-93822200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:93822200-93823200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:93823200-93823800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:93827400-93827800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr4:93827800-93829000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr4:93843200-93843600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:93843600-93845800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:93845600-93846400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr4:93845600-93846600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr4:93845600-93846600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr4:93845600-93846600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr4:93845600-93846800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr4:93845800-93846200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr4:93845800-93846200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr4:93845800-93846200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr4:93845800-93846400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr4:93845800-93846400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:93852000-93852400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:93864200-93866800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:93864400-93874200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr4:93865400-93865800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
34	chr4:93865800-93895400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr4:93871200-93883400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr4:93871400-93883200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr4:93882200-93882400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr4:93882400-93883000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr4:93883000-93883600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr4:93883200-93883600	Enhancers	Fetal Brain Male	brain
41	chr4:93883200-93883800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr4:93883200-93883800	Enhancers	Fetal Heart	heart
43	chr4:93883400-93883800	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr4:93883600-93884400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:93884400-93890600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:93885800-93886200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:93886200-93889800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:93889600-93891000	Enhancers	NHEK	skin
49	chr4:93889800-93890000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr4:93889800-93891000	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links