Variant report

Variant	nsv436964
Chromosome Location	chr4:120946900-120964187
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:120955314-120955502	HepG2	liver:	n/a	chr4:120955329-120955340
2	CEBPB	chr4:120956410-120956619	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr4:120953850-120954085	HepG2	liver:	n/a	chr4:120953995-120954012
4	CTCF	chr4:120964100-120964250	NHEK	skin:	n/a	n/a
5	CTCF	chr4:120946780-120946930	HCPEpiC	choroid plexus:	n/a	n/a
6	CTCF	chr4:120961197-120961252	LNCaP	prostate:	n/a	n/a
7	CTCF	chr4:120948340-120948490	GM06990	blood:	n/a	n/a
8	E2F4	chr4:120956529-120956558	MCF10A-Er-Src	breast:	n/a	n/a
9	ESR1	chr4:120961834-120962152	ECC-1	luminal epithelium:	n/a	n/a
10	FOXA1	chr4:120959441-120959695	HepG2	liver:	n/a	n/a
11	FOXA1	chr4:120959402-120959686	HepG2	liver:	n/a	n/a
12	FOXA1	chr4:120959429-120959738	HepG2	liver:	n/a	n/a
13	FOXA1	chr4:120959452-120959768	HepG2	liver:	n/a	n/a
14	FOXA2	chr4:120959475-120959671	HepG2	liver:	n/a	n/a
15	GATA3	chr4:120956522-120956872	MCF-7	breast:	n/a	chr4:120956742-120956749 chr4:120956735-120956756 chr4:120956742-120956749 chr4:120956738-120956754 chr4:120956742-120956749
16	GATA3	chr4:120952283-120952369	SH-SY5Y	brain:	n/a	n/a
17	JUN	chr4:120949583-120949769	K562	blood:	n/a	n/a
18	JUND	chr4:120951133-120951427	HepG2	liver:	n/a	chr4:120951303-120951312
19	KAP1	chr4:120956247-120956667	HEK293	kidney:	n/a	n/a
20	MAFF	chr4:120960048-120960238	K562	blood:	n/a	n/a
21	MAFF	chr4:120960018-120960277	HepG2	liver:	n/a	n/a
22	MAFK	chr4:120960117-120960184	K562	blood:	n/a	n/a
23	MAFK	chr4:120959986-120960228	HepG2	liver:	n/a	n/a
24	MAFK	chr4:120960031-120960296	IMR90	lung:	n/a	n/a
25	MAFK	chr4:120960019-120960302	HepG2	liver:	n/a	n/a
26	MAZ	chr4:120957739-120957748	HepG2	liver:	n/a	n/a
27	POLR2A	chr4:120948948-120949018	A549	lung:	n/a	n/a
28	POLR2A	chr4:120948977-120949021	MCF-7	breast:	n/a	n/a
29	STAT3	chr4:120962724-120962883	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:120692868..120695733-chr4:120948622..120950761,2	K562	blood:
2	chr4:120955421..120958256-chr4:120958733..120960538,2	K562	blood:
3	chr4:120956553..120960562-chr4:120961898..120965735,4	K562	blood:
4	chr4:120958158..120959809-chr4:120965003..120967800,2	K562	blood:
5	chr4:120956553..120960562-chr4:120961898..120965735,4	K562	blood:
6	chr4:120955421..120958256-chr4:120958733..120960538,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAD2L1-1	chr4:120961463-120961770	ENSG00000253825
2	lnc-MAD2L1-1	chr4:120956188-120956353	ENSG00000253825

No data

Variant related genes	Relation type
ENSG00000253825	TF binding region

Extended variants
information (count: 173 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149656312	chr4:120955710-120955711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542697106	chr4:120955725-120955726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192216275	chr4:120955766-120955767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7668039	chr4:120955777-120955778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551365329	chr4:120955792-120955793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184289195	chr4:120955832-120955833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527952659	chr4:120955857-120955858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145521604	chr4:120955858-120955859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34710460	chr4:120955860-120955861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567846793	chr4:120955892-120955893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536488918	chr4:120955921-120955922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189494443	chr4:120956002-120956003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553681137	chr4:120956034-120956035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570081115	chr4:120956087-120956088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538770584	chr4:120956097-120956098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182392993	chr4:120956109-120956110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572110141	chr4:120956113-120956114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377635570	chr4:120956206-120956207	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs533831167	chr4:120956316-120956317	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs78143083	chr4:120956365-120956366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573762177	chr4:120956406-120956407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs72914365	chr4:120956475-120956476	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs371294928	chr4:120956476-120956477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562722859	chr4:120956505-120956506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185976459	chr4:120956549-120956550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148843312	chr4:120956564-120956565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144030675	chr4:120956565-120956566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146618694	chr4:120956609-120956610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77384990	chr4:120956663-120956664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556044548	chr4:120956728-120956729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543446261	chr4:120956759-120956760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185798407	chr4:120957061-120957062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190173758	chr4:120957064-120957065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536561052	chr4:120957095-120957096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111308727	chr4:120957108-120957109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556041517	chr4:120957160-120957161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558166988	chr4:120957191-120957192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183888821	chr4:120958410-120958411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559535130	chr4:120958455-120958456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563984647	chr4:120958456-120958457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528534005	chr4:120958462-120958463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548663620	chr4:120958480-120958481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187652156	chr4:120958484-120958485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532889294	chr4:120958523-120958524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192623565	chr4:120958544-120958545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549794841	chr4:120958570-120958571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569996711	chr4:120958667-120958668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182486837	chr4:120958670-120958671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112088309	chr4:120958714-120958715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187149674	chr4:120958781-120958782	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Myelodysplastic syndrome	18508791	CNVD
small cell lung cancer	20016488	CNVD
Clear cell renal cell carcinoma	18791270	CNVD
Acute myeloid leukemia	19651601	CNVD
Gastric cancer	16891809	CNVD
Olfactory neuroblastoma	18408657	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120955600-120956000	Enhancers	Pancreas	Pancrea
2	chr4:120955800-120956200	Enhancers	Fetal Heart	heart
3	chr4:120956000-120956600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:120956200-120956400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:120956200-120956800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr4:120957000-120957200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:120958400-120958800	Enhancers	Fetal Kidney	kidney
8	chr4:120959200-120959600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:120959200-120959600	Enhancers	HepG2	liver
10	chr4:120959200-120959800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:120959200-120959800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:120959200-120960600	Enhancers	Colon Smooth Muscle	Colon
13	chr4:120959400-120959600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr4:120961600-120962200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:120961600-120962200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:120961800-120962200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr4:120962200-120962600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr4:120962200-120987200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:120962400-120963200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:120962600-120963400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr4:120962800-120963200	Enhancers	HUES6 Cell Line	embryonic stem cell

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