Variant report

Variant	nsv1029003
Chromosome Location	chr4:130740015-130767559
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	chr4:130743761-130744307	MCF-7	breast:	n/a	n/a
3	CEBPB	chr4:130743834-130744233	ECC-1	luminal epithelium:	n/a	n/a
4	CEBPB	chr4:130743602-130744389	HCT-116	colon:	n/a	n/a
5	CEBPB	chr4:130743922-130744085	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr4:130758127-130758417	HepG2	liver:	n/a	chr4:130758253-130758264
7	CEBPB	chr4:130743911-130744158	ECC-1	luminal epithelium:	n/a	n/a
8	CEBPB	chr4:130743584-130744315	HCT-116	colon:	n/a	n/a
9	CEBPB	chr4:130743715-130744612	Hela-S3	cervix:	n/a	n/a
10	CHD2	chr4:130743820-130744213	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr4:130748324-130748387	Fibrobl	skin:	n/a	n/a
12	CTCF	chr4:130753400-130753550	Caco-2	colon:	n/a	n/a
13	E2F4	chr4:130766817-130766830	MCF10A-Er-Src	breast:	n/a	n/a
14	E2F4	chr4:130753498-130753580	MCF10A-Er-Src	breast:	n/a	n/a
15	E2F4	chr4:130760807-130761216	MCF10A-Er-Src	breast:	n/a	n/a
16	E2F4	chr4:130766358-130766450	MCF10A-Er-Src	breast:	n/a	n/a
17	E2F4	chr4:130764914-130765104	MCF10A-Er-Src	breast:	n/a	chr4:130764938-130764952
18	E2F4	chr4:130754605-130754702	MCF10A-Er-Src	breast:	n/a	n/a
19	EP300	chr4:130743770-130744231	Hela-S3	cervix:	n/a	n/a
20	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
21	FOS	chr4:130760891-130761207	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr4:130760861-130761223	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr4:130743160-130743536	HUVEC	blood vessel:	n/a	n/a
24	FOS	chr4:130760872-130761277	MCF10A-Er-Src	breast:	n/a	n/a
25	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
26	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
27	FOS	chr4:130760903-130761198	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr4:130743099-130743158	MCF10A-Er-Src	breast:	n/a	chr4:130743102-130743114
29	FOS	chr4:130766521-130766828	MCF10A-Er-Src	breast:	n/a	chr4:130766652-130766664 chr4:130766654-130766662 chr4:130766550-130766562
30	FOS	chr4:130766530-130766781	MCF10A-Er-Src	breast:	n/a	chr4:130766652-130766664 chr4:130766654-130766662 chr4:130766550-130766562
31	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
32	FOS	chr4:130766604-130766828	MCF10A-Er-Src	breast:	n/a	chr4:130766652-130766664 chr4:130766654-130766662
33	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
34	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
35	FOS	chr4:130766606-130766793	MCF10A-Er-Src	breast:	n/a	chr4:130766652-130766664 chr4:130766654-130766662
36	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
37	FOS	chr4:130750268-130750382	MCF10A-Er-Src	breast:	n/a	n/a
38	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
39	FOSL1	chr4:130743750-130744615	HCT-116	colon:	n/a	chr4:130744465-130744472 chr4:130744464-130744472 chr4:130744464-130744472 chr4:130744463-130744473 chr4:130744463-130744473
40	FOSL2	chr4:130743845-130744212	MCF-7	breast:	n/a	n/a
41	FOXA1	chr4:130760350-130760655	T-47D	breast:	n/a	n/a
42	FOXA1	chr4:130760389-130760762	T-47D	breast:	n/a	n/a
43	GATA2	chr4:130743690-130744666	HUVEC	blood vessel:	n/a	chr4:130743998-130744011 chr4:130743948-130743955 chr4:130743997-130744013 chr4:130743997-130744013
44	GATA3	chr4:130743730-130744371	MCF-7	breast:	n/a	chr4:130743998-130744011 chr4:130743948-130743955 chr4:130743997-130744013 chr4:130743997-130744013
45	GATA3	chr4:130762325-130762856	MCF-7	breast:	n/a	chr4:130762616-130762623 chr4:130762752-130762759 chr4:130762616-130762623 chr4:130762747-130762763 chr4:130762752-130762759 chr4:130762616-130762623 chr4:130762745-130762766 chr4:130762616-130762625 chr4:130762752-130762759
46	GATA3	chr4:130761621-130761853	SH-SY5Y	brain:	n/a	n/a
47	GATA3	chr4:130760339-130760842	T-47D	breast:	n/a	n/a
48	GATA3	chr4:130757399-130757473	SH-SY5Y	brain:	n/a	n/a
49	GTF2F1	chr4:130743796-130744184	Hela-S3	cervix:	n/a	n/a
50	HDAC2	chr4:130743859-130744133	MCF-7	breast:	n/a	chr4:130743950-130743969

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	chr4:130758516-130758580	ENSG00000249618.1
3	lnc-C4orf33-1	chr4:130758526-130758580	ENSG00000249618.1
4	lnc-C4orf33-1	chr4:130758526-130758580	NONHSAT098298
5	lnc-C4orf33-1	chr4:130755365-130755479	NONHSAT098298
6	lnc-C4orf33-1	chr4:130746495-130746607	ENSG00000249618.1
7	lnc-C4orf33-1	chr4:130746495-130746607	NONHSAT098298

Variant related genes	Relation type
ENSG00000249618	TF binding region

Extended variants
information (count: 593 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:593 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547857393	chr4:130740029-130740030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189437469	chr4:130740141-130740142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2952895	chr4:130740142-130740143	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs530117443	chr4:130740149-130740150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371815390	chr4:130740213-130740214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542056138	chr4:130740224-130740225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560077541	chr4:130740236-130740237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527588504	chr4:130740299-130740300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552002842	chr4:130740307-130740308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570132071	chr4:130740310-130740311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531173646	chr4:130740311-130740312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs60882021	chr4:130740332-130740333	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs568173911	chr4:130740334-130740335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535195184	chr4:130740341-130740342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555156241	chr4:130740349-130740350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567025827	chr4:130740351-130740352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76409407	chr4:130740375-130740376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2968973	chr4:130740404-130740405	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs138712982	chr4:130740416-130740417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78157402	chr4:130740419-130740420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181866786	chr4:130740439-130740440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186252884	chr4:130740448-130740449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73848408	chr4:130740451-130740452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs189019002	chr4:130740473-130740474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181391186	chr4:130740478-130740479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545707107	chr4:130740522-130740523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564073901	chr4:130740583-130740584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4864205	chr4:130740613-130740614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs549793617	chr4:130740615-130740616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2955477	chr4:130740635-130740636	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs186251222	chr4:130740638-130740639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190709080	chr4:130740661-130740662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567086670	chr4:130740711-130740712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141759006	chr4:130740745-130740746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552784832	chr4:130740755-130740756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571212041	chr4:130740843-130740844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538149960	chr4:130740871-130740872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556527617	chr4:130740876-130740877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574693918	chr4:130740899-130740900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535965269	chr4:130740900-130740901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146259257	chr4:130740972-130740973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572191495	chr4:130741062-130741063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183144088	chr4:130741064-130741065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185997912	chr4:130741163-130741164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563936317	chr4:130741197-130741198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576326489	chr4:130741202-130741203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561859859	chr4:130741211-130741212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191208076	chr4:130741212-130741213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541855137	chr4:130741224-130741225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139211860	chr4:130741241-130741242	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:33 , 50 per page) page: 1

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

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