Variant report

Variant	nsv879549
Chromosome Location	chr4:91568530-91603567
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	chr4:91581813-91582180	HepG2	liver:	n/a	chr4:91581991-91582004 chr4:91581993-91582002 chr4:91581993-91582002 chr4:91581991-91582002 chr4:91581993-91582002
2	CEBPB	chr4:91581833-91582228	A549	lung:	n/a	chr4:91581991-91582004 chr4:91581993-91582002 chr4:91581993-91582002 chr4:91581991-91582002 chr4:91581993-91582002
3	CEBPB	chr4:91581805-91582181	IMR90	lung:	n/a	chr4:91581991-91582004 chr4:91581993-91582002 chr4:91581993-91582002 chr4:91581991-91582002 chr4:91581993-91582002
4	CEBPB	chr4:91581884-91582127	ECC-1	luminal epithelium:	n/a	chr4:91581991-91582004 chr4:91581993-91582002 chr4:91581993-91582002 chr4:91581991-91582002 chr4:91581993-91582002
5	CEBPB	chr4:91581817-91582162	Hela-S3	cervix:	n/a	chr4:91581991-91582004 chr4:91581993-91582002 chr4:91581993-91582002 chr4:91581991-91582002 chr4:91581993-91582002
6	CEBPB	chr4:91572954-91573101	A549	lung:	n/a	chr4:91573045-91573056
7	CEBPB	chr4:91572930-91573132	HepG2	liver:	n/a	chr4:91573045-91573056
8	CEBPB	chr4:91581814-91582158	H1-hESC	embryonic stem cell:	n/a	chr4:91581991-91582004 chr4:91581993-91582002 chr4:91581993-91582002 chr4:91581991-91582002 chr4:91581993-91582002
9	CEBPB	chr4:91581826-91582080	A549	lung:	n/a	chr4:91581991-91582004 chr4:91581993-91582002 chr4:91581993-91582002 chr4:91581991-91582002 chr4:91581993-91582002
10	CEBPB	chr4:91581839-91582171	K562	blood:	n/a	chr4:91581991-91582004 chr4:91581993-91582002 chr4:91581993-91582002 chr4:91581991-91582002 chr4:91581993-91582002
11	CEBPB	chr4:91581881-91582081	MCF-7	breast:	n/a	chr4:91581991-91582004 chr4:91581993-91582002 chr4:91581993-91582002 chr4:91581991-91582002 chr4:91581993-91582002
12	CEBPB	chr4:91581812-91582169	A549	lung:	n/a	chr4:91581991-91582004 chr4:91581993-91582002 chr4:91581993-91582002 chr4:91581991-91582002 chr4:91581993-91582002
13	CEBPB	chr4:91581883-91582230	MCF-7	breast:	n/a	chr4:91581991-91582004 chr4:91581993-91582002 chr4:91581993-91582002 chr4:91581991-91582002 chr4:91581993-91582002
14	CTCF	chr4:91590640-91590790	AG10803	skin:	n/a	n/a
15	CTCF	chr4:91583327-91583418	GM13977	blood:	n/a	n/a
16	E2F4	chr4:91568594-91568730	MCF10A-Er-Src	breast:	n/a	n/a
17	E2F4	chr4:91585122-91585322	MCF10A-Er-Src	breast:	n/a	n/a
18	EBF1	chr4:91591266-91591821	GM12878	blood:	n/a	chr4:91591567-91591578
19	EBF1	chr4:91591375-91591736	GM12878	blood:	n/a	chr4:91591567-91591578
20	EBF1	chr4:91591438-91591741	GM12878	blood:	n/a	chr4:91591567-91591578
21	EP300	chr4:91591376-91591612	GM12878	blood:	n/a	n/a
22	FOS	chr4:91590035-91590161	MCF10A-Er-Src	breast:	n/a	chr4:91590145-91590154
23	FOSL2	chr4:91596714-91596927	HepG2	liver:	n/a	n/a
24	FOXA2	chr4:91596698-91596984	A549	lung:	n/a	n/a
25	FOXA2	chr4:91602061-91602649	A549	lung:	n/a	n/a
26	FOXA2	chr4:91602296-91602678	A549	lung:	n/a	n/a
27	GATA1	chr4:91569695-91570762	PBDE	blood:	n/a	chr4:91570171-91570192 chr4:91570176-91570186 chr4:91570173-91570189
28	GATA3	chr4:91576597-91576815	SH-SY5Y	brain:	n/a	chr4:91576640-91576657 chr4:91576632-91576653
29	GATA3	chr4:91593977-91594089	SH-SY5Y	brain:	n/a	n/a
30	GATA3	chr4:91592831-91592863	SH-SY5Y	brain:	n/a	n/a
31	JUND	chr4:91580532-91580702	HepG2	liver:	n/a	chr4:91580604-91580615
32	MYC	chr4:91582034-91582185	MCF10A-Er-Src	breast:	n/a	n/a
33	NR3C1	chr4:91596709-91596869	A549	lung:	n/a	n/a
34	NR3C1	chr4:91596751-91596849	A549	lung:	n/a	n/a
35	PBX3	chr4:91596743-91596891	GM12878	blood:	n/a	n/a
36	PBX3	chr4:91579613-91579742	GM12878	blood:	n/a	n/a
37	POLR2A	chr4:91595109-91595211	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr4:91584361-91584381	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr4:91596708-91596871	HepG2	liver:	n/a	n/a
40	POLR2A	chr4:91587280-91587449	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr4:91589493-91589497	GM12878	blood:	n/a	n/a
42	POLR2A	chr4:91570690-91570744	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr4:91596721-91596853	A549	lung:	n/a	n/a
44	POLR2A	chr4:91577952-91578000	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr4:91582429-91582430	GM12878	blood:	n/a	n/a
46	POLR2A	chr4:91575681-91575778	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr4:91579686-91579842	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr4:91589346-91589472	GM12878	blood:	n/a	n/a
49	POLR2A	chr4:91582719-91582924	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr4:91593023-91593143	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:91570154-91570204	T-47D	breast:	n/a
2	chr4:91570154-91570204	NT2-D1	testis:	n/a
3	chr4:91570600-91570650	HRE	kidney:	n/a
4	chr4:91570600-91570650	HIPEpiC	eye:	n/a
5	chr4:91570154-91570204	ECC-1	luminal epithelium:	n/a
6	chr4:91570600-91570650	K562	blood:	n/a
7	chr4:91570154-91570204	HMEC	breast:	n/a
8	chr4:91570600-91570650	HL-60	blood:	n/a
9	chr4:91570600-91570650	MCF-7	breast:	n/a
10	chr4:91570600-91570650	Jurkat	blood:	n/a
11	chr4:91570154-91570204	LNCaP	prostate:	n/a
12	chr4:91570600-91570650	AG04449	skin:	fetal
13	chr4:91570600-91570650	SK-N-SH_RA	brain:	n/a
14	chr4:91570154-91570204	AoSMC	blood vessel:	n/a
15	chr4:91570600-91570650	Caco-2	colon:	n/a
16	chr4:91570600-91570650	ovcar-3	ovarian:	n/a
17	chr4:91570154-91570204	BJ	skin:	n/a
18	chr4:91570600-91570650	GM12892	blood:	n/a
19	chr4:91570154-91570204	GM12892	blood:	n/a
20	chr4:91570154-91570204	PrEC	prostate:	n/a
21	chr4:91570154-91570204	HEEpiC	esophagus:	n/a
22	chr4:91570600-91570650	SAEC	small airway:	n/a
23	chr4:91570600-91570650	HMEC	breast:	n/a
24	chr4:91570154-91570204	HUVEC	blood vessel:	n/a
25	chr4:91570600-91570650	AG09309	skin:	n/a
26	chr4:91570600-91570650	H1-hESC	embryonic stem cell:	embryo
27	chr4:91570600-91570650	BJ	skin:	n/a
28	chr4:91570154-91570204	GM19239	blood:	n/a
29	chr4:91570154-91570204	AG10803	skin:	n/a
30	chr4:91570154-91570204	HNPCEpiC	eye:	n/a
31	chr4:91570154-91570204	MCF10A-Er-Src	breast:	n/a
32	chr4:91570600-91570650	HCPEpiC	choroid plexus:	n/a
33	chr4:91570600-91570650	GM06990	blood:	n/a
34	chr4:91570154-91570204	GM12891	blood:	n/a
35	chr4:91570154-91570204	BE2_C	brain:	n/a
36	chr4:91570154-91570204	CMK	blood:	n/a
37	chr4:91570154-91570204	HEK293	kidney:	embryo
38	chr4:91570600-91570650	T-47D	breast:	n/a
39	chr4:91570154-91570204	AG04449	skin:	fetal
40	chr4:91570600-91570650	RPTEC	kidney:	n/a
41	chr4:91570154-91570204	MCF-7	breast:	n/a
42	chr4:91570600-91570650	PANC-1	pancreas:	n/a
43	chr4:91570154-91570204	GM12878	blood:	n/a
44	chr4:91570154-91570204	AG09319	gingival:	n/a
45	chr4:91570600-91570650	LNCaP	prostate:	n/a
46	chr4:91570600-91570650	HRCEpiC	kidney:	n/a
47	chr4:91570154-91570204	HL-60	blood:	n/a
48	chr4:91570154-91570204	Hela-S3	cervix:	n/a
49	chr4:91570600-91570650	NB4	blood:	n/a
50	chr4:91570600-91570650	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:91581426..91583883-chr4:91587486..91589501,2	MCF-7	breast:
2	chr4:91581426..91583883-chr4:91587486..91589501,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MMRN1-6	chr4:91570659-91570775	NONHSAT097411

Variant related genes	Relation type
ENSG00000251401	TF binding region
CCSER1	TF binding region
ENSG00000251401	CpG island
CCSER1	CpG island

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

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139569048	chr4:91568669-91568670	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs181456343	chr4:91568721-91568722	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs566775131	chr4:91569396-91569397	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs561989041	chr4:91569406-91569407	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs140172710	chr4:91569408-91569409	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs60285596	chr4:91569420-91569421	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs72661809	chr4:91569421-91569422	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs368198516	chr4:91569425-91569426	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs111424957	chr4:91569429-91569430	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs371996646	chr4:91569432-91569433	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs529286721	chr4:91569433-91569434	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs369725018	chr4:91569435-91569436	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs564907502	chr4:91569436-91569437	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs148638179	chr4:91569451-91569452	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs373458816	chr4:91569453-91569454	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs201947294	chr4:91569455-91569456	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs60636846	chr4:91569456-91569457	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs369351274	chr4:91569461-91569462	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs535718979	chr4:91569466-91569467	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs549412434	chr4:91569479-91569480	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs190027958	chr4:91569482-91569483	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs138869854	chr4:91569491-91569492	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs3042179	chr4:91569493-91569494	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs562844871	chr4:91569499-91569500	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs10018112	chr4:91569527-91569528	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs530666584	chr4:91569699-91569700	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs56900602	chr4:91569702-91569703	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs550901430	chr4:91569723-91569724	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs201034856	chr4:91569725-91569726	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs202016185	chr4:91569727-91569728	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs368136101	chr4:91569773-91569774	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs552043831	chr4:91569812-91569813	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs181438642	chr4:91569823-91569824	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs544336419	chr4:91569840-91569841	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs11731595	chr4:91569854-91569855	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs549431130	chr4:91569905-91569906	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs142136089	chr4:91569935-91569936	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs540075537	chr4:91569952-91569953	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs75417257	chr4:91570060-91570061	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs146227639	chr4:91570085-91570086	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs549276782	chr4:91570093-91570094	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs569319190	chr4:91570098-91570099	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs546702191	chr4:91570144-91570145	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs531596563	chr4:91570154-91570155	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs111545289	chr4:91570155-91570156	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs372144051	chr4:91570161-91570162	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs116856978	chr4:91570222-91570223	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs556915712	chr4:91570241-91570242	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs568654878	chr4:91570265-91570266	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs142391638	chr4:91570273-91570274	Inactive region	TF binding region	1 gene(s)	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
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
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91596600-91596800	Active TSS	K562	blood
2	chr4:91596600-91597000	Enhancers	Primary T cells from cord blood	blood
3	chr4:91596600-91597000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
4	chr4:91596800-91597000	Flanking Active TSS	K562	blood

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