Variant report

Variant	nsv879679
Chromosome Location	chr4:102574367-102658991
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:519)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:519 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:102610369-102610662	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:102651772-102651979	HepG2	liver:	n/a	n/a
3	BATF	chr4:102614944-102615380	GM12878	blood:	n/a	chr4:102615272-102615282
4	BATF	chr4:102651652-102651967	GM12878	blood:	n/a	n/a
5	BHLHE40	chr4:102645420-102645722	GM12878	blood:	n/a	n/a
6	CBX3	chr4:102651391-102652158	HCT-116	colon:	n/a	n/a
7	CBX3	chr4:102627818-102628253	HCT-116	colon:	n/a	n/a
8	CEBPB	chr4:102576129-102576412	IMR90	lung:	n/a	n/a
9	CEBPB	chr4:102629517-102629803	HepG2	liver:	n/a	chr4:102629648-102629659
10	CEBPB	chr4:102610473-102610662	HepG2	liver:	n/a	n/a
11	CEBPB	chr4:102610428-102610763	HepG2	liver:	n/a	n/a
12	CEBPB	chr4:102629462-102630154	Hela-S3	cervix:	n/a	chr4:102629648-102629659
13	CEBPB	chr4:102576096-102576481	HepG2	liver:	n/a	n/a
14	CEBPB	chr4:102576344-102576346	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr4:102629492-102629786	A549	lung:	n/a	chr4:102629648-102629659
16	CEBPB	chr4:102648976-102649113	IMR90	lung:	n/a	n/a
17	CEBPB	chr4:102629491-102629817	IMR90	lung:	n/a	chr4:102629648-102629659
18	CHD1	chr4:102614990-102615174	GM12878	blood:	n/a	n/a
19	CHD2	chr4:102645300-102645668	GM12878	blood:	n/a	n/a
20	CTCF	chr4:102651700-102651850	A549	lung:	n/a	n/a
21	CTCF	chr4:102651760-102651910	HEK293	kidney:	n/a	n/a
22	CTCF	chr4:102651860-102652010	GM12866	blood:	n/a	n/a
23	CTCF	chr4:102651646-102652012	HepG2	liver:	n/a	n/a
24	CTCF	chr4:102651280-102651430	AoAF	blood vessel:	n/a	n/a
25	CTCF	chr4:102651840-102651990	WI-38	lung:	n/a	n/a
26	CTCF	chr4:102651820-102651970	HPAF	blood vessel:	n/a	n/a
27	CTCF	chr4:102651840-102651990	GM12869	blood:	n/a	n/a
28	CTCF	chr4:102651800-102651950	BJ	skin:	n/a	n/a
29	CTCF	chr4:102651760-102651910	HCT-116	colon:	n/a	n/a
30	CTCF	chr4:102651820-102651970	AG04450	lung:	n/a	n/a
31	CTCF	chr4:102651768-102651904	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr4:102651735-102651947	GM12891	blood:	n/a	n/a
33	CTCF	chr4:102651793-102651932	GM20000	blood:	n/a	n/a
34	CTCF	chr4:102651780-102651930	GM12868	blood:	n/a	n/a
35	CTCF	chr4:102651820-102651970	AG09319	gingival:	n/a	n/a
36	CTCF	chr4:102651780-102651930	HCFaa	heart:	n/a	n/a
37	CTCF	chr4:102651740-102651890	GM12874	blood:	n/a	n/a
38	CTCF	chr4:102651740-102651890	GM12865	blood:	n/a	n/a
39	CTCF	chr4:102651400-102651550	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr4:102651760-102651910	GM12875	blood:	n/a	n/a
41	CTCF	chr4:102651800-102651950	AG09319	gingival:	n/a	n/a
42	CTCF	chr4:102651760-102651910	GM12870	blood:	n/a	n/a
43	CTCF	chr4:102651760-102651910	HVMF	connective:	n/a	n/a
44	CTCF	chr4:102651760-102651910	HRE	kidney:	n/a	n/a
45	CTCF	chr4:102621063-102621125	Spleen_OC	spleen:	n/a	n/a
46	CTCF	chr4:102629176-102629196	IMR90	lung:	n/a	n/a
47	CTCF	chr4:102651635-102652082	MCF-7	breast:	n/a	n/a
48	CTCF	chr4:102651800-102651950	HCPEpiC	choroid plexus:	n/a	n/a
49	CTCF	chr4:102599458-102599531	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr4:102651800-102651950	GM12801	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:102090452..102090967-chr4:102651453..102652195,2	MCF-7	breast:
2	chr4:102090091..102091062-chr4:102651393..102652212,3	MCF-7	breast:
3	chr4:102575240..102577315-chr4:102579878..102582255,2	K562	blood:
4	chr4:102575240..102577315-chr4:102579878..102582255,2	K562	blood:
5	chr4:102151616..102153523-chr4:102648348..102650655,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6-462P	TF binding region

Extended variants
information (count: 2311 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:2311 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7676236	chr4:102574367-102574368	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs146436915	chr4:102574382-102574383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548093408	chr4:102574450-102574451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7654159	chr4:102574471-102574472	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs78416444	chr4:102574487-102574488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190571229	chr4:102574537-102574538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182228147	chr4:102574539-102574540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545975794	chr4:102574562-102574563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72684813	chr4:102574573-102574574	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs575745033	chr4:102574587-102574588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72684814	chr4:102574695-102574696	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs561553770	chr4:102574730-102574731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs578066754	chr4:102574732-102574733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112154618	chr4:102574859-102574860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199788250	chr4:102574926-102574927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537245132	chr4:102574942-102574943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539218946	chr4:102574950-102574951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186852330	chr4:102575013-102575014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190044867	chr4:102575022-102575023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370968116	chr4:102575072-102575073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112876513	chr4:102575079-102575080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551605435	chr4:102575109-102575110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554033628	chr4:102575116-102575117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113082351	chr4:102575136-102575137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538356937	chr4:102575173-102575174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114454288	chr4:102575189-102575190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111633447	chr4:102575210-102575211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568388438	chr4:102575218-102575219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181040988	chr4:102575219-102575220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185463503	chr4:102575227-102575228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190266743	chr4:102575233-102575234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539707682	chr4:102575239-102575240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10011245	chr4:102575253-102575254	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs148036826	chr4:102575264-102575265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543143743	chr4:102575301-102575302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561808086	chr4:102575337-102575338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10019129	chr4:102575356-102575357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs561597465	chr4:102575362-102575363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559040935	chr4:102575363-102575364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182150754	chr4:102575366-102575367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373006517	chr4:102575367-102575368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145999149	chr4:102575430-102575431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563494040	chr4:102575471-102575472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112261032	chr4:102575483-102575484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192185031	chr4:102575484-102575485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74572936	chr4:102575505-102575506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371013034	chr4:102575513-102575514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs59439224	chr4:102575529-102575530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs398063870	chr4:102575541-102575542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76437417	chr4:102575547-102575548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Pancreatic cancer	17952125	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102572000-102592200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:102572800-102575000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr4:102573800-102574800	Weak transcription	Esophagus	oesophagus
4	chr4:102574800-102575200	Enhancers	Esophagus	oesophagus
5	chr4:102576400-102576600	Enhancers	Left Ventricle	heart
6	chr4:102576400-102576600	Enhancers	Psoas Muscle	Psoas
7	chr4:102576600-102577600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:102576800-102577600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:102580600-102581200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:102581400-102582200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:102581600-102582000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:102581600-102582200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:102581800-102582400	Enhancers	Adipose Nuclei	Adipose
14	chr4:102582400-102591400	Weak transcription	Adipose Nuclei	Adipose
15	chr4:102588400-102589600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:102588600-102589400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:102589400-102589800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:102589600-102590000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:102589800-102590000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:102590000-102590800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:102590000-102591800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:102590800-102591400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:102591400-102591800	Enhancers	Adipose Nuclei	Adipose
24	chr4:102591400-102592200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:102591800-102592000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:102591800-102592800	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr4:102592000-102592400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:102592000-102593000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr4:102592200-102592600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:102592200-102592600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:102592400-102592600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:102592600-102592800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:102592600-102593800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:102592800-102593000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:102592800-102593400	Enhancers	Adipose Nuclei	Adipose
36	chr4:102593000-102593400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:102593800-102594200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:102594200-102594600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:102594600-102594800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:102594800-102595200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:102595200-102595600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:102595600-102599200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:102599200-102599800	Enhancers	HSMM	muscle
44	chr4:102599200-102600400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:102599200-102600600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:102605600-102605800	Enhancers	Pancreas	Pancrea
47	chr4:102609200-102609400	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr4:102609600-102610600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr4:102609800-102612000	Enhancers	HepG2	liver
50	chr4:102610000-102610800	Enhancers	Liver	Liver

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