Variant report

Variant	nsv523994
Chromosome Location	chr4:130738623-130774012
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	CBX3	chr4:130743650-130744358	HCT-116	colon:	n/a	n/a
2	CEBPB	chr4:130743922-130744085	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr4:130743715-130744612	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr4:130743911-130744158	ECC-1	luminal epithelium:	n/a	n/a
5	CEBPB	chr4:130743761-130744307	MCF-7	breast:	n/a	n/a
6	CEBPB	chr4:130758127-130758417	HepG2	liver:	n/a	chr4:130758253-130758264
7	CEBPB	chr4:130743602-130744389	HCT-116	colon:	n/a	n/a
8	CEBPB	chr4:130743834-130744233	ECC-1	luminal epithelium:	n/a	n/a
9	CEBPB	chr4:130743584-130744315	HCT-116	colon:	n/a	n/a
10	CHD2	chr4:130743820-130744213	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr4:130753400-130753550	Caco-2	colon:	n/a	n/a
12	CTCF	chr4:130748324-130748387	Fibrobl	skin:	n/a	n/a
13	E2F4	chr4:130760807-130761216	MCF10A-Er-Src	breast:	n/a	n/a
14	E2F4	chr4:130764914-130765104	MCF10A-Er-Src	breast:	n/a	chr4:130764938-130764952
15	E2F4	chr4:130766817-130766830	MCF10A-Er-Src	breast:	n/a	n/a
16	E2F4	chr4:130738638-130738875	MCF10A-Er-Src	breast:	n/a	n/a
17	E2F4	chr4:130754605-130754702	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F4	chr4:130753498-130753580	MCF10A-Er-Src	breast:	n/a	n/a
19	E2F4	chr4:130766358-130766450	MCF10A-Er-Src	breast:	n/a	n/a
20	EP300	chr4:130743770-130744231	Hela-S3	cervix:	n/a	n/a
21	FOS	chr4:130745016-130745185	MCF10A-Er-Src	breast:	n/a	chr4:130745094-130745105 chr4:130745095-130745105 chr4:130745065-130745076 chr4:130745096-130745105 chr4:130745096-130745104 chr4:130745097-130745104
22	FOS	chr4:130744863-130745269	HUVEC	blood vessel:	n/a	chr4:130745094-130745105 chr4:130745095-130745105 chr4:130745065-130745076 chr4:130745096-130745105 chr4:130745096-130745104 chr4:130745097-130745104
23	FOS	chr4:130772907-130773045	MCF10A-Er-Src	breast:	n/a	chr4:130773021-130773030 chr4:130773020-130773029
24	FOS	chr4:130766606-130766793	MCF10A-Er-Src	breast:	n/a	chr4:130766652-130766664 chr4:130766654-130766662
25	FOS	chr4:130743868-130744618	MCF10A-Er-Src	breast:	n/a	chr4:130744465-130744472 chr4:130744464-130744472 chr4:130744464-130744472 chr4:130744463-130744473 chr4:130744085-130744096 chr4:130744463-130744473
26	FOS	chr4:130760891-130761207	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr4:130743927-130744589	MCF10A-Er-Src	breast:	n/a	chr4:130744465-130744472 chr4:130744464-130744472 chr4:130744464-130744472 chr4:130744463-130744473 chr4:130744085-130744096 chr4:130744463-130744473
28	FOS	chr4:130766604-130766828	MCF10A-Er-Src	breast:	n/a	chr4:130766652-130766664 chr4:130766654-130766662
29	FOS	chr4:130743918-130744507	MCF10A-Er-Src	breast:	n/a	chr4:130744465-130744472 chr4:130744464-130744472 chr4:130744464-130744472 chr4:130744463-130744473 chr4:130744085-130744096 chr4:130744463-130744473
30	FOS	chr4:130738538-130738932	MCF10A-Er-Src	breast:	n/a	chr4:130738756-130738766 chr4:130738755-130738767 chr4:130738756-130738766 chr4:130738757-130738765 chr4:130738758-130738769 chr4:130738756-130738766 chr4:130738756-130738766
31	FOS	chr4:130738568-130738855	MCF10A-Er-Src	breast:	n/a	chr4:130738756-130738766 chr4:130738755-130738767 chr4:130738756-130738766 chr4:130738757-130738765 chr4:130738758-130738769 chr4:130738756-130738766 chr4:130738756-130738766
32	FOS	chr4:130760872-130761277	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr4:130766521-130766828	MCF10A-Er-Src	breast:	n/a	chr4:130766652-130766664 chr4:130766654-130766662 chr4:130766550-130766562
34	FOS	chr4:130738571-130738924	MCF10A-Er-Src	breast:	n/a	chr4:130738756-130738766 chr4:130738755-130738767 chr4:130738756-130738766 chr4:130738757-130738765 chr4:130738758-130738769 chr4:130738756-130738766 chr4:130738756-130738766
35	FOS	chr4:130766530-130766781	MCF10A-Er-Src	breast:	n/a	chr4:130766652-130766664 chr4:130766654-130766662 chr4:130766550-130766562
36	FOS	chr4:130743099-130743158	MCF10A-Er-Src	breast:	n/a	chr4:130743102-130743114
37	FOS	chr4:130760861-130761223	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr4:130738670-130738817	MCF10A-Er-Src	breast:	n/a	chr4:130738756-130738766 chr4:130738755-130738767 chr4:130738756-130738766 chr4:130738757-130738765 chr4:130738758-130738769 chr4:130738756-130738766 chr4:130738756-130738766
39	FOS	chr4:130743757-130744618	HUVEC	blood vessel:	n/a	chr4:130744465-130744472 chr4:130744464-130744472 chr4:130744464-130744472 chr4:130744463-130744473 chr4:130744085-130744096 chr4:130744463-130744473
40	FOS	chr4:130760903-130761198	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr4:130743902-130744586	MCF10A-Er-Src	breast:	n/a	chr4:130744465-130744472 chr4:130744464-130744472 chr4:130744464-130744472 chr4:130744463-130744473 chr4:130744085-130744096 chr4:130744463-130744473
42	FOS	chr4:130744943-130745306	MCF10A-Er-Src	breast:	n/a	chr4:130745094-130745105 chr4:130745095-130745105 chr4:130745065-130745076 chr4:130745096-130745105 chr4:130745096-130745104 chr4:130745097-130745104
43	FOS	chr4:130743160-130743536	HUVEC	blood vessel:	n/a	n/a
44	FOS	chr4:130750268-130750382	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr4:130768825-130769079	MCF10A-Er-Src	breast:	n/a	n/a
46	FOSL1	chr4:130743750-130744615	HCT-116	colon:	n/a	chr4:130744465-130744472 chr4:130744464-130744472 chr4:130744464-130744472 chr4:130744463-130744473 chr4:130744463-130744473
47	FOSL2	chr4:130743845-130744212	MCF-7	breast:	n/a	n/a
48	FOXA1	chr4:130760350-130760655	T-47D	breast:	n/a	n/a
49	FOXA1	chr4:130760389-130760762	T-47D	breast:	n/a	n/a
50	GATA2	chr4:130743690-130744666	HUVEC	blood vessel:	n/a	chr4:130743998-130744011 chr4:130743948-130743955 chr4:130743997-130744013 chr4:130743997-130744013

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:130733450..130735016-chr4:130746494..130748569,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C4orf33-1	chr4:130755365-130755479	ENSG00000249618.1
2	lnc-C4orf33-1	chr4:130746495-130746607	ENSG00000249618.1
3	lnc-C4orf33-1	chr4:130755365-130755479	NONHSAT098298
4	lnc-C4orf33-1	chr4:130758526-130758580	NONHSAT098298
5	lnc-C4orf33-1	chr4:130758526-130758580	ENSG00000249618.1
6	lnc-C4orf33-1	chr4:130746495-130746607	NONHSAT098298
7	lnc-C4orf33-1	chr4:130758516-130758580	ENSG00000249618.1

Variant related genes	Relation type
ENSG00000249618	TF binding region

Extended variants
information (count: 686 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:686 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2952894	chr4:130738623-130738624	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148815834	chr4:130738776-130738777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550837279	chr4:130738796-130738797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568992974	chr4:130738800-130738801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368350088	chr4:130738821-130738822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548439037	chr4:130738822-130738823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2955478	chr4:130738875-130738876	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs80209622	chr4:130738904-130738905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547651759	chr4:130738909-130738910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77680904	chr4:130738923-130738924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182953593	chr4:130738954-130738955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114320105	chr4:130738980-130738981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530573251	chr4:130739003-130739004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148003373	chr4:130739006-130739007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78735668	chr4:130739038-130739039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561592947	chr4:130739042-130739043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565773373	chr4:130739057-130739058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114581490	chr4:130739066-130739067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187580159	chr4:130739152-130739153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533137747	chr4:130739244-130739245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192990655	chr4:130739265-130739266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546788947	chr4:130739271-130739272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532663713	chr4:130739338-130739339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551048053	chr4:130739343-130739344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566686842	chr4:130739356-130739357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184581768	chr4:130739408-130739409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190250998	chr4:130739423-130739424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191970219	chr4:130739429-130739430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566788037	chr4:130739462-130739463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527580216	chr4:130739513-130739514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551794603	chr4:130739517-130739518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570071321	chr4:130739542-130739543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535079099	chr4:130739553-130739554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537548509	chr4:130739560-130739561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556195801	chr4:130739593-130739594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569366438	chr4:130739639-130739640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536882820	chr4:130739689-130739690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555050128	chr4:130739745-130739746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184281836	chr4:130739840-130739841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573522378	chr4:130739853-130739854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141696836	chr4:130739898-130739899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558994762	chr4:130739922-130739923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144773422	chr4:130739939-130739940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547857393	chr4:130740029-130740030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189437469	chr4:130740141-130740142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2952895	chr4:130740142-130740143	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs530117443	chr4:130740149-130740150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371815390	chr4:130740213-130740214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542056138	chr4:130740224-130740225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560077541	chr4:130740236-130740237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung squamous cell carcinoma	22363434	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130737400-130739200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:130738600-130743400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:130739200-130739600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:130739600-130739800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:130739800-130742800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:130742200-130744600	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr4:130742800-130744400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:130742800-130745200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:130743000-130743400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:130743000-130745000	Enhancers	Hela-S3	cervix
11	chr4:130743000-130745000	Enhancers	HUVEC	blood vessel
12	chr4:130743200-130744000	Enhancers	Psoas Muscle	Psoas
13	chr4:130743200-130744000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr4:130743200-130744200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:130743400-130743800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:130743400-130744200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:130743600-130745200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:130743800-130745000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:130744000-130744800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr4:130744000-130745000	Enhancers	Adipose Nuclei	Adipose
21	chr4:130744200-130745200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:130744400-130744800	Enhancers	NH-A	brain
23	chr4:130744400-130745000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:130744400-130745200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:130744600-130745600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr4:130745200-130745800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:130745200-130746000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:130745800-130746000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr4:130757600-130758400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:130758400-130762000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:130762000-130762400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:130762400-130767200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:130763200-130763600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr4:130767200-130767600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:130767200-130767600	Enhancers	HepG2	liver
36	chr4:130767400-130767800	Active TSS	A549	lung
37	chr4:130773000-130773800	Enhancers	Hela-S3	cervix
38	chr4:130773200-130773400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:130773200-130774000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:130773400-130775200	Enhancers	HepG2	liver
41	chr4:130773600-130774000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:130773800-130774000	Flanking Active TSS	Hela-S3	cervix
43	chr4:130774000-130774400	Enhancers	Hela-S3	cervix

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