Variant report

Variant	nsv964081
Chromosome Location	chr4:110260263-110268789
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:123)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr4:110267533-110267939	K562	blood:	n/a	n/a
2	CBX3	chr4:110260921-110261172	K562	blood:	n/a	n/a
3	CHD2	chr4:110267760-110268079	K562	blood:	n/a	n/a
4	CTCF	chr4:110263137-110263175	GM10248	blood:	n/a	n/a
5	CTCF	chr4:110260529-110260555	GM10248	blood:	n/a	n/a
6	CTCF	chr4:110268389-110268496	GM13977	blood:	n/a	n/a
7	CTCF	chr4:110268375-110268400	GM13976	blood:	n/a	n/a
8	E2F6	chr4:110260975-110261145	K562	blood:	n/a	n/a
9	E2F6	chr4:110260925-110261191	H1-hESC	embryonic stem cell:	n/a	n/a
10	E2F6	chr4:110260901-110261271	H1-hESC	embryonic stem cell:	n/a	n/a
11	HEY1	chr4:110260255-110260491	K562	blood:	n/a	n/a
12	MAFF	chr4:110260970-110261145	HepG2	liver:	n/a	n/a
13	MAFK	chr4:110260971-110261021	HepG2	liver:	n/a	chr4:110260988-110261003
14	MAFK	chr4:110260942-110261105	IMR90	lung:	n/a	chr4:110260988-110261003
15	MAFK	chr4:110260972-110261068	HepG2	liver:	n/a	chr4:110260988-110261003
16	MAZ	chr4:110267602-110267766	K562	blood:	n/a	n/a
17	POLR2A	chr4:110260193-110260526	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr4:110267549-110267574	MCF-7	breast:	n/a	n/a
19	POLR2A	chr4:110260209-110260510	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr4:110260173-110260554	GM12878	blood:	n/a	n/a
21	POLR2A	chr4:110260237-110260540	GM12891	blood:	n/a	n/a
22	POLR2A	chr4:110267538-110267721	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr4:110260154-110260642	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr4:110260220-110260519	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr4:110268237-110268498	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr4:110261131-110261160	MCF-7	breast:	n/a	n/a
27	POLR2A	chr4:110260270-110260414	GM12891	blood:	n/a	n/a
28	POLR2A	chr4:110267467-110267793	GM12892	blood:	n/a	n/a
29	POLR2A	chr4:110267589-110267723	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr4:110261177-110261239	MCF-7	breast:	n/a	n/a
31	SPI1	chr4:110264776-110264881	K562	blood:	n/a	n/a
32	USF1	chr4:110267430-110267710	HepG2	liver:	n/a	chr4:110267570-110267581
33	USF1	chr4:110267509-110267961	K562	blood:	n/a	chr4:110267570-110267581
34	USF1	chr4:110267485-110267882	K562	blood:	n/a	chr4:110267570-110267581
35	ZNF143	chr4:110261030-110261202	H1-hESC	embryonic stem cell:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:110267677-110267727	HCF	heart:	n/a
2	chr4:110267677-110267727	HCF	heart:	n/a
3	chr4:110267632-110267682	GM12878	blood:	n/a
4	chr4:110267677-110267727	HRPEpiC	eye:	n/a
5	chr4:110267677-110267727	ovcar-3	ovarian:	n/a
6	chr4:110267677-110267727	PFSK-1	brain:	n/a
7	chr4:110267632-110267682	HRE	kidney:	n/a
8	chr4:110267677-110267727	Hela-S3	cervix:	n/a
9	chr4:110267632-110267682	ovcar-3	ovarian:	n/a
10	chr4:110267677-110267727	HCT-116	colon:	n/a
11	chr4:110267632-110267682	HMEC	breast:	n/a
12	chr4:110267632-110267682	HCM	heart:	n/a
13	chr4:110267677-110267727	T-47D	breast:	n/a
14	chr4:110267632-110267682	BJ	skin:	n/a
15	chr4:110267677-110267727	HIPEpiC	eye:	n/a
16	chr4:110267677-110267727	LNCaP	prostate:	n/a
17	chr4:110267677-110267727	GM12891	blood:	n/a
18	chr4:110267677-110267727	Caco-2	colon:	n/a
19	chr4:110267677-110267727	HNPCEpiC	eye:	n/a
20	chr4:110267632-110267682	MCF-7	breast:	n/a
21	chr4:110267677-110267727	GM12878	blood:	n/a
22	chr4:110267677-110267727	HMEC	breast:	n/a
23	chr4:110267677-110267727	K562	blood:	n/a
24	chr4:110267677-110267727	SKMC	muscle:	n/a
25	chr4:110267677-110267727	SK-N-SH_RA	brain:	n/a
26	chr4:110267632-110267682	HIPEpiC	eye:	n/a
27	chr4:110267677-110267727	ProgFib	skin:	n/a
28	chr4:110267677-110267727	PANC-1	pancreas:	n/a
29	chr4:110267677-110267727	AG04450	lung:	fetal
30	chr4:110267677-110267727	U87	brain:	n/a
31	chr4:110267677-110267727	BE2_C	brain:	n/a
32	chr4:110267677-110267727	IMR90	lung:	fetal
33	chr4:110267632-110267682	MCF10A-Er-Src	breast:	n/a
34	chr4:110267677-110267727	HL-60	blood:	n/a
35	chr4:110267632-110267682	ProgFib	skin:	n/a
36	chr4:110267632-110267682	SAEC	small airway:	n/a
37	chr4:110267677-110267727	NHDF-neo	bronchial:	n/a
38	chr4:110267632-110267682	HCT-116	colon:	n/a
39	chr4:110267677-110267727	HCPEpiC	choroid plexus:	n/a
40	chr4:110267632-110267682	U87	brain:	n/a
41	chr4:110267677-110267727	SK-N-SH	brain:	n/a
42	chr4:110267632-110267682	HRPEpiC	eye:	n/a
43	chr4:110267677-110267727	Jurkat	blood:	n/a
44	chr4:110267632-110267682	NB4	blood:	n/a
45	chr4:110267677-110267727	AG09319	gingival:	n/a
46	chr4:110267677-110267727	GM12892	blood:	n/a
47	chr4:110267632-110267682	AoSMC	blood vessel:	n/a
48	chr4:110267677-110267727	BJ	skin:	n/a
49	chr4:110267677-110267727	HEK293	kidney:	embryo
50	chr4:110267632-110267682	HRCEpiC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110255115..110257197-chr4:110258103..110260350,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL25A1-1	chr4:110268631-110268787	ENSG00000247950
2	lnc-COL25A1-3	chr4:110267482-110268615	NONHSAT097775

No data

Variant related genes	Relation type
RBMXP4	TF binding region
RBMXP4	CpG island
ZEB2	miRNA target sites

Extended variants
information (count: 102 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144621520	chr4:110260269-110260270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554373465	chr4:110260279-110260280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79740759	chr4:110260324-110260325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540040306	chr4:110260424-110260425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553675826	chr4:110260431-110260432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576747357	chr4:110260462-110260463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556252455	chr4:110260481-110260482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144216646	chr4:110260482-110260483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146541372	chr4:110260572-110260573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs386678306	chr4:110260619-110260620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369356712	chr4:110260620-110260621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189623171	chr4:110260697-110260698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182648666	chr4:110260769-110260770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186880995	chr4:110260776-110260777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555777836	chr4:110260806-110260807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs545360851	chr4:110260809-110260810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs567038138	chr4:110260815-110260816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs370389288	chr4:110260818-110260819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs141179792	chr4:110260836-110260837	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs569283858	chr4:110260849-110260850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs537844953	chr4:110260861-110260862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs548700436	chr4:110260870-110260871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs111985750	chr4:110260875-110260876	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs568438659	chr4:110260885-110260886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs533998192	chr4:110260918-110260919	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs557024752	chr4:110260919-110260920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs553564750	chr4:110260927-110260928	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs183229633	chr4:110260998-110260999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs189084504	chr4:110261029-110261030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs371884872	chr4:110261030-110261031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs151262018	chr4:110261054-110261055	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs541444414	chr4:110261068-110261069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs564648622	chr4:110261084-110261085	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs112709348	chr4:110261085-110261086	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs193139635	chr4:110261090-110261091	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs561406998	chr4:110261111-110261112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs541088237	chr4:110261152-110261153	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs560672180	chr4:110261179-110261180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs556397928	chr4:110267433-110267434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369809037	chr4:110267440-110267441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546428475	chr4:110267516-110267517	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs562785932	chr4:110267518-110267519	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs73838581	chr4:110267535-110267536	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs548313613	chr4:110267561-110267562	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs568197014	chr4:110267577-110267578	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs541717217	chr4:110267665-110267666	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs34663484	chr4:110267685-110267686	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs148798335	chr4:110267733-110267734	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs146033395	chr4:110267739-110267740	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs367602277	chr4:110267745-110267746	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	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
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	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
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Schizophrenia	19546859	CNVD
Colorectal cancer	16272173	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110257800-110260800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:110260800-110261200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:110267400-110267800	Enhancers	K562	blood

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