Variant report

Variant	nsv879051
Chromosome Location	chr4:60335008-60442490
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	ATF2	chr4:60419115-60419467	GM12878	blood:	n/a	n/a
2	BATF	chr4:60436963-60437115	GM12878	blood:	n/a	n/a
3	BATF	chr4:60419091-60419374	GM12878	blood:	n/a	n/a
4	BATF	chr4:60401319-60401538	GM12878	blood:	n/a	chr4:60401429-60401440
5	BATF	chr4:60439526-60439802	GM12878	blood:	n/a	n/a
6	BATF	chr4:60439519-60439795	GM12878	blood:	n/a	n/a
7	BATF	chr4:60401251-60401624	GM12878	blood:	n/a	chr4:60401429-60401440
8	BATF	chr4:60419100-60419406	GM12878	blood:	n/a	n/a
9	BCL11A	chr4:60419048-60419387	GM12878	blood:	n/a	n/a
10	BCL11A	chr4:60401311-60401576	GM12878	blood:	n/a	n/a
11	BHLHE40	chr4:60419045-60419363	GM12878	blood:	n/a	n/a
12	BHLHE40	chr4:60401391-60401591	GM12878	blood:	n/a	n/a
13	BRCA1	chr4:60377596-60377875	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr4:60432414-60432580	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr4:60404855-60405120	HepG2	liver:	n/a	chr4:60404995-60405006
16	CEBPB	chr4:60404866-60405095	IMR90	lung:	n/a	chr4:60404995-60405006
17	CEBPB	chr4:60377397-60377982	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr4:60383198-60383449	HepG2	liver:	n/a	chr4:60383336-60383347
19	CEBPB	chr4:60371676-60371876	HepG2	liver:	n/a	n/a
20	CEBPB	chr4:60388967-60389215	IMR90	lung:	n/a	chr4:60389093-60389104
21	CEBPB	chr4:60404902-60405102	A549	lung:	n/a	chr4:60404995-60405006
22	CEBPB	chr4:60426929-60427274	HepG2	liver:	n/a	chr4:60427091-60427104 chr4:60427091-60427102
23	CEBPB	chr4:60426929-60427254	IMR90	lung:	n/a	chr4:60427091-60427104 chr4:60427091-60427102
24	CEBPB	chr4:60426979-60427233	A549	lung:	n/a	chr4:60427091-60427104 chr4:60427091-60427102
25	CEBPB	chr4:60388595-60389160	HepG2	liver:	n/a	chr4:60389093-60389104
26	CEBPB	chr4:60383229-60383460	A549	lung:	n/a	chr4:60383336-60383347
27	CHD2	chr4:60377651-60377849	Hela-S3	cervix:	n/a	n/a
28	CHD2	chr4:60419004-60419384	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr4:60419012-60419365	GM12878	blood:	n/a	n/a
30	CTCF	chr4:60419067-60419353	GM12878	blood:	n/a	n/a
31	CTCF	chr4:60338600-60338750	HMEC	breast:	n/a	n/a
32	CTCF	chr4:60376772-60377046	GM12878	blood:	n/a	n/a
33	CTCF	chr4:60366500-60366650	HVMF	connective:	n/a	n/a
34	CTCF	chr4:60419100-60419250	GM12871	blood:	n/a	n/a
35	CTCF	chr4:60338581-60338780	GM12878	blood:	n/a	n/a
36	CTCF	chr4:60343026-60343074	GM20000	blood:	n/a	n/a
37	CTCF	chr4:60401200-60401350	NHDF-neo	bronchial:	n/a	n/a
38	CTCF	chr4:60350740-60350890	HRPEpiC	eye:	n/a	n/a
39	CTCF	chr4:60335699-60335730	Lung_OC	lung:	n/a	n/a
40	CUX1	chr4:60436857-60437132	GM12878	blood:	n/a	n/a
41	CUX1	chr4:60419486-60419532	GM12878	blood:	n/a	n/a
42	E2F4	chr4:60345736-60346163	MCF10A-Er-Src	breast:	n/a	n/a
43	E2F4	chr4:60347970-60348337	MCF10A-Er-Src	breast:	n/a	n/a
44	E2F4	chr4:60402989-60403184	MCF10A-Er-Src	breast:	n/a	n/a
45	E2F4	chr4:60393682-60393874	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F4	chr4:60411360-60411457	MCF10A-Er-Src	breast:	n/a	n/a
47	EBF1	chr4:60419107-60419441	GM12878	blood:	n/a	n/a
48	EBF1	chr4:60419099-60419432	GM12878	blood:	n/a	n/a
49	EBF1	chr4:60436880-60437080	GM12878	blood:	n/a	n/a
50	EBF1	chr4:60419091-60419438	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:63626389..63627074-chr4:60415889..60416567,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IGFBP7-7	chr4:60426719-60426805	XLOC_003964
2	lnc-IGFBP7-7	chr4:60440016-60440076	XLOC_003964
3	lnc-IGFBP7-7	chr4:60416860-60416972	XLOC_003964
4	lnc-IGFBP7-7	chr4:60429941-60430063	XLOC_003964

Variant related genes	Relation type
ENSG00000199780	TF binding region
RUNX2	miRNA target sites

Extended variants
information (count: 1598 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1598 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555536221	chr4:60344048-60344049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs77358095	chr4:60344064-60344065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs370531811	chr4:60344084-60344085	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs185457546	chr4:60344098-60344099	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs147048976	chr4:60344213-60344214	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs577687013	chr4:60344220-60344221	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs545039880	chr4:60344251-60344252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs151024740	chr4:60344287-60344288	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs572083461	chr4:60344301-60344302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs542402910	chr4:60344336-60344337	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs543755763	chr4:60344361-60344362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs531794685	chr4:60344389-60344390	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs543950657	chr4:60344441-60344442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs550014713	chr4:60344462-60344463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs564186437	chr4:60344469-60344470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs1511408	chr4:60344490-60344491	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs532337672	chr4:60344493-60344494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs547753130	chr4:60344499-60344500	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs140886646	chr4:60344509-60344510	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs150157489	chr4:60344510-60344511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs138599392	chr4:60344529-60344530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs567422490	chr4:60344552-60344553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs1511409	chr4:60344555-60344556	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs370600567	chr4:60344559-60344560	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs556465203	chr4:60344565-60344566	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs374308576	chr4:60344567-60344568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs538586623	chr4:60344570-60344571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs553724941	chr4:60344585-60344586	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs115352415	chr4:60349423-60349424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190116058	chr4:60349460-60349461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548027191	chr4:60349514-60349515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182716174	chr4:60349534-60349535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531878926	chr4:60349568-60349569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543745516	chr4:60349571-60349572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113231189	chr4:60349576-60349577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565240773	chr4:60349589-60349590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372589411	chr4:60349597-60349598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532404768	chr4:60349598-60349599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111930106	chr4:60350005-60350006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543660525	chr4:60350019-60350020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188989705	chr4:60350040-60350041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577134569	chr4:60350062-60350063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116698484	chr4:60350116-60350117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77155681	chr4:60350127-60350128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2006886	chr4:60350129-60350130	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs372418257	chr4:60350172-60350173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74552762	chr4:60350189-60350190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370937935	chr4:60350231-60350232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140046672	chr4:60350236-60350237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571438121	chr4:60350306-60350307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	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
Multiple myeloma	16616336	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	20369283	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:60344000-60344600	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr4:60349400-60349600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr4:60350000-60350600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:60350800-60351200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr4:60354800-60355200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr4:60354800-60355400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr4:60366000-60368200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:60367000-60368000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr4:60367000-60369400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr4:60367200-60368000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr4:60367200-60368200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr4:60367400-60368000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr4:60367400-60368200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr4:60369200-60369600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:60369400-60369600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:60376800-60377400	Enhancers	Hela-S3	cervix
17	chr4:60382800-60383000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:60383800-60384000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr4:60383800-60384200	Enhancers	Pancreas	Pancrea
20	chr4:60383800-60384600	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr4:60383800-60384600	Active TSS	Gastric	stomach
22	chr4:60384000-60384600	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr4:60384000-60384600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr4:60384000-60384600	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr4:60384200-60384400	Flanking Active TSS	Pancreas	Pancrea
26	chr4:60384400-60384600	Active TSS	Pancreas	Pancrea
27	chr4:60400400-60402000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr4:60400400-60403600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:60400400-60403600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:60400600-60401000	Enhancers	Primary hematopoietic stem cells	blood
31	chr4:60401200-60401600	Enhancers	Primary hematopoietic stem cells	blood
32	chr4:60401200-60403400	Enhancers	GM12878-XiMat	blood
33	chr4:60402000-60403200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr4:60402800-60403400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:60402800-60403600	Enhancers	Hela-S3	cervix
36	chr4:60403000-60403400	Enhancers	NHEK	skin
37	chr4:60403000-60403800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr4:60403200-60403400	Enhancers	Primary hematopoietic stem cells	blood
39	chr4:60403200-60403600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr4:60403200-60403800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:60405200-60405600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:60405600-60406000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:60406000-60406200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr4:60406200-60407600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr4:60407600-60407800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:60407600-60407800	Enhancers	Pancreas	Pancrea
47	chr4:60409400-60410400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:60418400-60419000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:60418400-60419200	Enhancers	Primary hematopoietic stem cells	blood
50	chr4:60418600-60419000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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