Variant report

Variant	nsv879050
Chromosome Location	chr4:60306500-60414423
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	BATF	chr4:60401251-60401624	GM12878	blood:	n/a	chr4:60401429-60401440
2	BATF	chr4:60401319-60401538	GM12878	blood:	n/a	chr4:60401429-60401440
3	BCL11A	chr4:60401311-60401576	GM12878	blood:	n/a	n/a
4	BHLHE40	chr4:60401391-60401591	GM12878	blood:	n/a	n/a
5	BRCA1	chr4:60377596-60377875	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr4:60377397-60377982	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr4:60388967-60389215	IMR90	lung:	n/a	chr4:60389093-60389104
8	CEBPB	chr4:60404902-60405102	A549	lung:	n/a	chr4:60404995-60405006
9	CEBPB	chr4:60383229-60383460	A549	lung:	n/a	chr4:60383336-60383347
10	CEBPB	chr4:60383198-60383449	HepG2	liver:	n/a	chr4:60383336-60383347
11	CEBPB	chr4:60333317-60333477	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr4:60388595-60389160	HepG2	liver:	n/a	chr4:60389093-60389104
13	CEBPB	chr4:60404866-60405095	IMR90	lung:	n/a	chr4:60404995-60405006
14	CEBPB	chr4:60371676-60371876	HepG2	liver:	n/a	n/a
15	CEBPB	chr4:60404855-60405120	HepG2	liver:	n/a	chr4:60404995-60405006
16	CHD2	chr4:60377651-60377849	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr4:60401200-60401350	NHDF-neo	bronchial:	n/a	n/a
18	CTCF	chr4:60376772-60377046	GM12878	blood:	n/a	n/a
19	CTCF	chr4:60338600-60338750	HMEC	breast:	n/a	n/a
20	CTCF	chr4:60350740-60350890	HRPEpiC	eye:	n/a	n/a
21	CTCF	chr4:60338581-60338780	GM12878	blood:	n/a	n/a
22	CTCF	chr4:60366500-60366650	HVMF	connective:	n/a	n/a
23	CTCF	chr4:60335699-60335730	Lung_OC	lung:	n/a	n/a
24	CTCF	chr4:60343026-60343074	GM20000	blood:	n/a	n/a
25	E2F4	chr4:60347970-60348337	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr4:60345736-60346163	MCF10A-Er-Src	breast:	n/a	n/a
27	E2F4	chr4:60411360-60411457	MCF10A-Er-Src	breast:	n/a	n/a
28	E2F4	chr4:60393682-60393874	MCF10A-Er-Src	breast:	n/a	n/a
29	E2F4	chr4:60402989-60403184	MCF10A-Er-Src	breast:	n/a	n/a
30	EBF1	chr4:60323080-60323285	GM12878	blood:	n/a	chr4:60323166-60323177
31	EBF1	chr4:60321516-60321746	GM12878	blood:	n/a	n/a
32	EBF1	chr4:60401344-60401461	GM12878	blood:	n/a	n/a
33	EP300	chr4:60365134-60366489	SK-N-SH	brain:	n/a	chr4:60366172-60366181 chr4:60366300-60366314
34	EP300	chr4:60350459-60351358	SK-N-SH	brain:	n/a	n/a
35	EP300	chr4:60401314-60401576	GM12878	blood:	n/a	n/a
36	EP300	chr4:60365861-60366190	SK-N-SH_RA	brain:	n/a	chr4:60366172-60366181
37	EP300	chr4:60365826-60366181	SK-N-SH_RA	brain:	n/a	chr4:60366172-60366181
38	EP300	chr4:60401306-60401611	GM12878	blood:	n/a	n/a
39	EP300	chr4:60377611-60377952	Hela-S3	cervix:	n/a	n/a
40	EP300	chr4:60345821-60345926	HepG2	liver:	n/a	n/a
41	EP300	chr4:60401351-60401482	GM12878	blood:	n/a	n/a
42	FAM48A	chr4:60374000-60374082	GM12878	blood:	n/a	n/a
43	FOS	chr4:60402961-60403606	MCF10A-Er-Src	breast:	n/a	chr4:60403152-60403159 chr4:60403152-60403161 chr4:60403152-60403160
44	FOS	chr4:60321483-60321748	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr4:60308089-60308094	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr4:60321522-60321755	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr4:60308110-60308267	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr4:60377648-60377949	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr4:60321590-60321754	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr4:60371216-60371493	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:60301296..60303463-chr4:60317465..60318968,2	K562	blood:

Variant related genes	Relation type
ENSG00000199780	TF binding region

Extended variants
information (count: 1101 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1101 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192967566	chr4:60315000-60315001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6820858	chr4:60315007-60315008	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs531591537	chr4:60315010-60315011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556381292	chr4:60315026-60315027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73196606	chr4:60315069-60315070	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs377101766	chr4:60315070-60315071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532471426	chr4:60315081-60315082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79277808	chr4:60315114-60315115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551117227	chr4:60315117-60315118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6827039	chr4:60315125-60315126	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs141210806	chr4:60315171-60315172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75691326	chr4:60315214-60315215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558880044	chr4:60315242-60315243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548986344	chr4:60315246-60315247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77808496	chr4:60315247-60315248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577202787	chr4:60315256-60315257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182993938	chr4:60315273-60315274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556148725	chr4:60315296-60315297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543996746	chr4:60315306-60315307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs137931626	chr4:60315327-60315328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377666841	chr4:60315351-60315352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538747447	chr4:60315352-60315353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6827654	chr4:60315365-60315366	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs376463832	chr4:60315384-60315385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572673816	chr4:60315412-60315413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147135484	chr4:60315473-60315474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1567566	chr4:60315492-60315493	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs1018263	chr4:60315535-60315536	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs576695237	chr4:60315542-60315543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543405010	chr4:60315591-60315592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368021294	chr4:60315596-60315597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187335331	chr4:60315611-60315612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532409135	chr4:60315649-60315650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547480859	chr4:60315650-60315651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559447231	chr4:60315684-60315685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201484580	chr4:60315689-60315690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527469919	chr4:60315711-60315712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370381836	chr4:60315789-60315790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34792034	chr4:60315827-60315828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76926951	chr4:60315835-60315836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567423381	chr4:60315879-60315880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191787532	chr4:60315903-60315904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73196611	chr4:60315904-60315905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs73196613	chr4:60315908-60315909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs571255817	chr4:60315923-60315924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538685432	chr4:60315944-60315945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148759431	chr4:60315962-60315963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568228874	chr4:60315993-60315994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184005752	chr4:60316061-60316062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369596955	chr4:60316078-60316079	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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:60315000-60315600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr4:60315400-60315600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:60315600-60317800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:60317800-60318000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:60318000-60323000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:60323000-60323400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:60323000-60323800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:60323000-60323800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr4:60323200-60323400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:60323200-60323600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr4:60323200-60323600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:60323200-60323600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:60344000-60344600	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr4:60349400-60349600	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr4:60350000-60350600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr4:60350800-60351200	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr4:60354800-60355200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr4:60354800-60355400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr4:60366000-60368200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr4:60367000-60368000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr4:60367000-60369400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr4:60367200-60368000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr4:60367200-60368200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr4:60367400-60368000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr4:60367400-60368200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr4:60369200-60369600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:60369400-60369600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:60376800-60377400	Enhancers	Hela-S3	cervix
29	chr4:60382800-60383000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:60383800-60384000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr4:60383800-60384200	Enhancers	Pancreas	Pancrea
32	chr4:60383800-60384600	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr4:60383800-60384600	Active TSS	Gastric	stomach
34	chr4:60384000-60384600	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr4:60384000-60384600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr4:60384000-60384600	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr4:60384200-60384400	Flanking Active TSS	Pancreas	Pancrea
38	chr4:60384400-60384600	Active TSS	Pancreas	Pancrea
39	chr4:60400400-60402000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr4:60400400-60403600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:60400400-60403600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:60400600-60401000	Enhancers	Primary hematopoietic stem cells	blood
43	chr4:60401200-60401600	Enhancers	Primary hematopoietic stem cells	blood
44	chr4:60401200-60403400	Enhancers	GM12878-XiMat	blood
45	chr4:60402000-60403200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr4:60402800-60403400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:60402800-60403600	Enhancers	Hela-S3	cervix
48	chr4:60403000-60403400	Enhancers	NHEK	skin
49	chr4:60403000-60403800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr4:60403200-60403400	Enhancers	Primary hematopoietic stem cells	blood

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