Variant report

Variant	nsv879535
Chromosome Location	chr4:90565218-90624853
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	chr4:90596122-90596570	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:90602260-90602839	HepG2	liver:	n/a	n/a
3	BACH1	chr4:90582404-90582976	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr4:90602368-90602730	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr4:90602385-90602693	HepG2	liver:	n/a	n/a
6	BRCA1	chr4:90581499-90583099	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr4:90581749-90583044	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr4:90578903-90579031	K562	blood:	n/a	n/a
9	CEBPB	chr4:90604021-90604285	H1-hESC	embryonic stem cell:	n/a	chr4:90604137-90604148
10	CEBPB	chr4:90581150-90581412	A549	lung:	n/a	chr4:90581275-90581288 chr4:90581277-90581286 chr4:90581277-90581286 chr4:90581277-90581286
11	CEBPB	chr4:90603999-90604299	K562	blood:	n/a	chr4:90604137-90604148
12	CEBPB	chr4:90605745-90606014	A549	lung:	n/a	n/a
13	CEBPB	chr4:90603963-90604302	HepG2	liver:	n/a	chr4:90604137-90604148
14	CEBPB	chr4:90605790-90605932	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr4:90605740-90606036	HepG2	liver:	n/a	n/a
16	CEBPB	chr4:90581113-90581438	IMR90	lung:	n/a	chr4:90581275-90581288 chr4:90581277-90581286 chr4:90581277-90581286 chr4:90581277-90581286
17	CEBPB	chr4:90581113-90581456	HepG2	liver:	n/a	chr4:90581275-90581288 chr4:90581277-90581286 chr4:90581277-90581286 chr4:90581277-90581286
18	CEBPB	chr4:90582143-90582305	A549	lung:	n/a	n/a
19	CEBPB	chr4:90605753-90606032	IMR90	lung:	n/a	n/a
20	CEBPB	chr4:90591479-90591574	HepG2	liver:	n/a	chr4:90591522-90591533
21	CEBPB	chr4:90581119-90581470	Hela-S3	cervix:	n/a	chr4:90581275-90581288 chr4:90581277-90581286 chr4:90581277-90581286 chr4:90581277-90581286
22	CEBPB	chr4:90578817-90579031	A549	lung:	n/a	n/a
23	CEBPB	chr4:90602405-90602566	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr4:90581122-90581402	H1-hESC	embryonic stem cell:	n/a	chr4:90581275-90581288 chr4:90581277-90581286 chr4:90581277-90581286 chr4:90581277-90581286
25	CEBPD	chr4:90602454-90602739	HepG2	liver:	n/a	n/a
26	CHD1	chr4:90602530-90604198	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chr4:90582628-90583000	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr4:90579200-90579350	HBMEC	blood vessel:	n/a	chr4:90579263-90579279 chr4:90579262-90579280 chr4:90579264-90579285
29	CTCF	chr4:90579160-90579310	Hela-S3	cervix:	n/a	chr4:90579263-90579279 chr4:90579262-90579280 chr4:90579264-90579285
30	CTCF	chr4:90578687-90579495	SK-N-SH	brain:	n/a	chr4:90579263-90579279 chr4:90579262-90579280 chr4:90579264-90579285
31	CTCF	chr4:90579140-90579290	SAEC	small airway:	n/a	chr4:90579263-90579279 chr4:90579262-90579280 chr4:90579264-90579285
32	CTCF	chr4:90579205-90579369	Lung_OC	lung:	n/a	chr4:90579263-90579279 chr4:90579262-90579280 chr4:90579264-90579285
33	CTCF	chr4:90622100-90622250	HVMF	connective:	n/a	n/a
34	CTCF	chr4:90579220-90579370	HMEC	breast:	n/a	chr4:90579263-90579279 chr4:90579262-90579280 chr4:90579264-90579285
35	CTCF	chr4:90579180-90579330	WERI-Rb-1	eye:	n/a	chr4:90579263-90579279 chr4:90579262-90579280 chr4:90579264-90579285
36	CTCF	chr4:90579180-90579330	SK-N-SH_RA	brain:	n/a	chr4:90579263-90579279 chr4:90579262-90579280 chr4:90579264-90579285
37	CTCF	chr4:90578800-90578950	AG04450	lung:	n/a	n/a
38	CTCF	chr4:90579087-90579372	SK-N-SH_RA	brain:	n/a	chr4:90579263-90579279 chr4:90579262-90579280 chr4:90579264-90579285
39	CTCF	chr4:90579154-90579339	SK-N-SH_RA	brain:	n/a	chr4:90579263-90579279 chr4:90579262-90579280 chr4:90579264-90579285
40	CTCF	chr4:90579141-90579356	Gliobla	brain:	n/a	chr4:90579263-90579279 chr4:90579262-90579280 chr4:90579264-90579285
41	CTCF	chr4:90579160-90579310	Caco-2	colon:	n/a	chr4:90579263-90579279 chr4:90579262-90579280 chr4:90579264-90579285
42	CTCF	chr4:90579140-90579290	HAc	cerebellar:	n/a	chr4:90579263-90579279 chr4:90579262-90579280 chr4:90579264-90579285
43	CTCF	chr4:90579120-90579270	NHEK	skin:	n/a	n/a
44	CTCF	chr4:90579180-90579330	MCF-7	breast:	n/a	chr4:90579263-90579279 chr4:90579262-90579280 chr4:90579264-90579285
45	CTCF	chr4:90579146-90579408	HUVEC	blood vessel:	n/a	chr4:90579263-90579279 chr4:90579262-90579280 chr4:90579264-90579285
46	CTCF	chr4:90579160-90579310	A549	lung:	n/a	chr4:90579263-90579279 chr4:90579262-90579280 chr4:90579264-90579285
47	CTCF	chr4:90621920-90622070	HEEpiC	esophagus:	n/a	n/a
48	CTCF	chr4:90579220-90579370	HRE	kidney:	n/a	chr4:90579263-90579279 chr4:90579262-90579280 chr4:90579264-90579285
49	CTCF	chr4:90579200-90579350	HPF	lung:	n/a	chr4:90579263-90579279 chr4:90579262-90579280 chr4:90579264-90579285
50	CTCF	chr4:90579040-90579190	HAc	cerebellar:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:90615817..90617413-chr4:90622737..90624751,2	K562	blood:
2	chr4:90615817..90617413-chr4:90622737..90624751,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MMRN1-2	chr4:90613566-90615087	ENSG00000251095.1
2	lnc-MMRN1-2	chr4:90574422-90574536	ENSG00000251095.1
3	lnc-MMRN1-2	chr4:90572267-90572345	ENSG00000251095.1
4	lnc-MMRN1-2	chr4:90612436-90612556	ENSG00000251095.1
5	lnc-MMRN1-2	chr4:90602663-90602835	ENSG00000251095.1
6	lnc-TIGD2-1	chr4:90612436-90612556	ENSG00000251095.2
7	lnc-MMRN1-2	chr4:90575732-90575812	ENSG00000251095.1
8	lnc-SNCA-1	chr4:90623425-90623525	XLOC_004017
9	lnc-MMRN1-2	chr4:90612436-90612556	ENSG00000251095.1
10	lnc-MMRN1-2	chr4:90612436-90612556	ENSG00000251095.1
11	lnc-MMRN1-2	chr4:90612436-90612524	ENSG00000251095.1
12	lnc-MMRN1-2	chr4:90581365-90581506	ENSG00000251095.1

Variant related genes	Relation type
ENSG00000251095	TF binding region
MAP3K11	miRNA target sites

Extended variants
information (count: 2045 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2045 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11932021	chr4:90565218-90565219	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561077263	chr4:90565225-90565226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531668887	chr4:90565237-90565238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559653349	chr4:90565238-90565239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187436600	chr4:90565242-90565243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532316612	chr4:90565260-90565261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201479118	chr4:90565261-90565262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547625733	chr4:90565281-90565282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530062030	chr4:90565298-90565299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565906432	chr4:90565314-90565315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557755152	chr4:90565317-90565318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548389404	chr4:90565336-90565337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569796460	chr4:90565340-90565341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537148236	chr4:90565344-90565345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577578380	chr4:90565349-90565350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145128321	chr4:90565350-90565351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538983701	chr4:90565357-90565358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554008087	chr4:90565383-90565384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572386767	chr4:90565385-90565386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542840094	chr4:90565411-90565412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561143150	chr4:90565416-90565417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74939297	chr4:90565439-90565440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543856664	chr4:90565451-90565452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138584801	chr4:90565462-90565463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532510393	chr4:90565505-90565506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542293994	chr4:90565557-90565558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11944530	chr4:90565615-90565616	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs559719018	chr4:90565618-90565619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374121861	chr4:90565733-90565734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17015970	chr4:90565769-90565770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs552842417	chr4:90565773-90565774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548454571	chr4:90565875-90565876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569858518	chr4:90565876-90565877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191806806	chr4:90565880-90565881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529073637	chr4:90565921-90565922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571064733	chr4:90565928-90565929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528734237	chr4:90565950-90565951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570365974	chr4:90565964-90565965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141689371	chr4:90566035-90566036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552529907	chr4:90566044-90566045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542452984	chr4:90566091-90566092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559133917	chr4:90566092-90566093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528324298	chr4:90566122-90566123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551285076	chr4:90566135-90566136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554750414	chr4:90566167-90566168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546996578	chr4:90566178-90566179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576534379	chr4:90566219-90566220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372740148	chr4:90566255-90566256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571273307	chr4:90566256-90566257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558976584	chr4:90566267-90566268	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Multiple myeloma	17550852	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

Chromatin state (count:229 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90562600-90566200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:90562800-90566000	Weak transcription	HepG2	liver
3	chr4:90566000-90567400	Enhancers	HepG2	liver
4	chr4:90566200-90566800	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr4:90573600-90574800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:90573800-90574200	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr4:90574200-90574400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr4:90574200-90574600	Enhancers	HepG2	liver
9	chr4:90574200-90574800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:90574200-90575000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:90574400-90574800	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr4:90576800-90577800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:90577800-90602600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:90578800-90579000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:90579000-90581600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:90579200-90579600	Enhancers	Dnd41	blood
17	chr4:90579200-90580000	Enhancers	NHEK	skin
18	chr4:90579600-90580000	Enhancers	HMEC	breast
19	chr4:90579600-90580200	Enhancers	Primary B cells from peripheral blood	blood
20	chr4:90579600-90580200	Enhancers	GM12878-XiMat	blood
21	chr4:90579800-90580000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:90579800-90580000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:90579800-90580000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:90580000-90581400	Weak transcription	HMEC	breast
25	chr4:90580000-90581400	Weak transcription	NHEK	skin
26	chr4:90581000-90583400	Enhancers	Hela-S3	cervix
27	chr4:90581400-90582200	Enhancers	NHEK	skin
28	chr4:90581400-90587200	Enhancers	HMEC	breast
29	chr4:90581600-90583200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:90581600-90583200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:90581600-90583400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr4:90581600-90583800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:90581600-90587200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:90581800-90582200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:90581800-90583000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:90581800-90583200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:90581800-90585800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:90581800-90587400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:90582200-90582400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr4:90582200-90582600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr4:90582200-90582800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:90582200-90583000	Enhancers	HUVEC	blood vessel
43	chr4:90582200-90583000	Flanking Active TSS	NHEK	skin
44	chr4:90582200-90583000	Enhancers	Osteobl	bone
45	chr4:90582200-90583200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr4:90582200-90583200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr4:90582200-90583200	Enhancers	NH-A	brain
48	chr4:90582400-90582800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr4:90582400-90582800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:90582400-90582800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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