Variant report

Variant	nsv879024
Chromosome Location	chr4:56742205-56786589
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	BACH1	chr4:56751207-56751211	K562	blood:	n/a	n/a
2	CBX3	chr4:56773039-56773653	HCT-116	colon:	n/a	n/a
3	CEBPB	chr4:56776122-56776640	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr4:56769429-56769634	HepG2	liver:	n/a	n/a
5	CEBPB	chr4:56776081-56776720	IMR90	lung:	n/a	n/a
6	CEBPB	chr4:56746840-56747184	A549	lung:	n/a	chr4:56747003-56747014
7	CEBPB	chr4:56759811-56760344	HCT-116	colon:	n/a	chr4:56759986-56759999 chr4:56759988-56759999 chr4:56759988-56759999 chr4:56759986-56759999
8	CEBPB	chr4:56783330-56783454	K562	blood:	n/a	n/a
9	CEBPB	chr4:56759877-56760488	HCT-116	colon:	n/a	chr4:56759986-56759999 chr4:56759988-56759999 chr4:56759988-56759999 chr4:56759986-56759999
10	CEBPB	chr4:56759806-56760349	A549	lung:	n/a	chr4:56759986-56759999 chr4:56759988-56759999 chr4:56759988-56759999 chr4:56759986-56759999
11	CEBPB	chr4:56759741-56760382	Hela-S3	cervix:	n/a	chr4:56759986-56759999 chr4:56759988-56759999 chr4:56759988-56759999 chr4:56759986-56759999
12	CEBPB	chr4:56759969-56760291	A549	lung:	n/a	chr4:56759986-56759999 chr4:56759988-56759999 chr4:56759988-56759999 chr4:56759986-56759999
13	CEBPB	chr4:56746855-56747166	H1-hESC	embryonic stem cell:	n/a	chr4:56747003-56747014
14	CEBPB	chr4:56746838-56747195	K562	blood:	n/a	chr4:56747003-56747014
15	CEBPB	chr4:56759759-56760331	IMR90	lung:	n/a	chr4:56759986-56759999 chr4:56759988-56759999 chr4:56759988-56759999 chr4:56759986-56759999
16	CEBPB	chr4:56746866-56747163	Hela-S3	cervix:	n/a	chr4:56747003-56747014
17	CEBPB	chr4:56746864-56747108	ECC-1	luminal epithelium:	n/a	chr4:56747003-56747014
18	CEBPB	chr4:56746834-56747196	IMR90	lung:	n/a	chr4:56747003-56747014
19	CEBPB	chr4:56746837-56747194	HepG2	liver:	n/a	chr4:56747003-56747014
20	CTCF	chr4:56753920-56754070	GM12871	blood:	n/a	n/a
21	CTCF	chr4:56753940-56754090	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr4:56753900-56754050	HMEC	breast:	n/a	n/a
23	CTCF	chr4:56753911-56754072	MCF-7	breast:	n/a	n/a
24	CTCF	chr4:56753929-56754053	Gliobla	brain:	n/a	n/a
25	CTCF	chr4:56759349-56759360	MCF-7	breast:	n/a	n/a
26	CTCF	chr4:56753880-56754030	GM12873	blood:	n/a	n/a
27	CTCF	chr4:56753880-56754030	AG04449	skin:	n/a	n/a
28	CTCF	chr4:56759180-56759330	AoAF	blood vessel:	n/a	n/a
29	CTCF	chr4:56753960-56754110	GM12872	blood:	n/a	n/a
30	CTCF	chr4:56753940-56754090	GM12873	blood:	n/a	n/a
31	CTCF	chr4:56753860-56754010	HRE	kidney:	n/a	n/a
32	CTCF	chr4:56753900-56754050	A549	lung:	n/a	n/a
33	CTCF	chr4:56753860-56754010	NHDF-neo	bronchial:	n/a	n/a
34	CTCF	chr4:56753880-56754030	HEK293	kidney:	n/a	n/a
35	CTCF	chr4:56759306-56759407	MCF-7	breast:	n/a	n/a
36	CTCF	chr4:56753880-56754030	MCF-7	breast:	n/a	n/a
37	CTCF	chr4:56759301-56759392	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr4:56753880-56754030	HMF	breast:	n/a	n/a
39	CTCF	chr4:56754000-56754150	GM12867	blood:	n/a	n/a
40	CTCF	chr4:56753940-56754090	GM12875	blood:	n/a	n/a
41	CTCF	chr4:56753920-56754070	HFF-Myc	foreskin:	n/a	n/a
42	CTCF	chr4:56753890-56754016	HepG2	liver:	n/a	n/a
43	CTCF	chr4:56753916-56754013	HUVEC	blood vessel:	n/a	n/a
44	CTCF	chr4:56753880-56754030	HepG2	liver:	n/a	n/a
45	CTCF	chr4:56753939-56754053	Fibrobl	skin:	n/a	n/a
46	CTCF	chr4:56753909-56754061	K562	blood:	n/a	n/a
47	CTCF	chr4:56753880-56754030	HRPEpiC	eye:	n/a	n/a
48	CTCF	chr4:56753860-56754010	GM12875	blood:	n/a	n/a
49	CTCF	chr4:56753860-56754010	HEEpiC	esophagus:	n/a	n/a
50	CTCF	chr4:56753900-56754050	WERI-Rb-1	eye:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:56770927..56772433-chr4:56774182..56776594,2	MCF-7	breast:
2	chr4:56769616..56772179-chr4:56795493..56798021,2	K562	blood:
3	chr4:56749868..56752513-chr4:56758146..56759826,2	K562	blood:
4	chr4:56733117..56736188-chr4:56740397..56743875,4	K562	blood:
5	chr4:56749468..56751302-chr4:56754110..56755765,2	K562	blood:
6	chr4:56758636..56761129-chr4:56795006..56797729,2	K562	blood:
7	chr4:56756226..56757757-chr4:56764812..56767728,2	K562	blood:
8	chr4:56767756..56770065-chr4:56770884..56773389,3	K562	blood:
9	chr4:56777785..56781071-chr4:56783446..56787071,3	K562	blood:
10	chr4:56749868..56753196-chr4:56757101..56759826,3	K562	blood:
11	chr4:56777785..56781071-chr4:56783446..56787071,3	K562	blood:
12	chr4:56734450..56737481-chr4:56739957..56742859,3	K562	blood:
13	chr4:56747163..56749341-chr4:56759165..56761780,2	MCF-7	breast:
14	chr4:56738961..56741195-chr4:56745001..56747831,2	K562	blood:
15	chr4:56770927..56772433-chr4:56774182..56776594,2	MCF-7	breast:
16	chr4:56756226..56757757-chr4:56764812..56767728,2	K562	blood:
17	chr4:56749468..56751302-chr4:56754110..56755765,2	K562	blood:
18	chr4:56782050..56785556-chr4:56813041..56815789,3	K562	blood:

Variant related genes	Relation type
RNU6-652P	TF binding region
EXOC1	TF binding region
ENSG00000174799	chromatin interactions
ENSG00000090989	chromatin interactions
ENSG00000222954	chromatin interactions
ENSG00000202358	chromatin interactions

Extended variants
information (count: 1623 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1623 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4865041	chr4:56742205-56742206	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34916933	chr4:56742223-56742224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577021300	chr4:56742236-56742237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115756258	chr4:56742261-56742262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376919135	chr4:56742273-56742274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576106822	chr4:56742302-56742303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541585459	chr4:56742345-56742346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374035980	chr4:56742440-56742441	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545051957	chr4:56742474-56742475	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76727401	chr4:56742484-56742485	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572110844	chr4:56742485-56742486	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541328365	chr4:56742496-56742497	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533720862	chr4:56742518-56742519	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145868136	chr4:56742557-56742558	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575503007	chr4:56742634-56742635	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553454377	chr4:56742646-56742647	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533118785	chr4:56742657-56742658	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549963314	chr4:56742684-56742685	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138697254	chr4:56742693-56742694	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531811217	chr4:56742758-56742759	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188544484	chr4:56742768-56742769	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs386674601	chr4:56742802-56742803	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78550893	chr4:56742803-56742804	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112678445	chr4:56742926-56742927	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189915907	chr4:56742953-56742954	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182597646	chr4:56742996-56742997	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565112481	chr4:56743023-56743024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35077859	chr4:56743030-56743031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186520398	chr4:56743040-56743041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542410973	chr4:56743134-56743135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561133588	chr4:56743188-56743189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576591526	chr4:56743199-56743200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535522475	chr4:56743273-56743274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13147883	chr4:56743276-56743277	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs572022618	chr4:56743291-56743292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541036859	chr4:56743308-56743309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564337786	chr4:56743322-56743323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575881732	chr4:56743345-56743346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs578015227	chr4:56743349-56743350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191207452	chr4:56743405-56743406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563484083	chr4:56743409-56743410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79808929	chr4:56743431-56743432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542261175	chr4:56743440-56743441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537110655	chr4:56743441-56743442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544903673	chr4:56743449-56743450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558138534	chr4:56743479-56743480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377236951	chr4:56743498-56743499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184462063	chr4:56743592-56743593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570536985	chr4:56743621-56743622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533645276	chr4:56743637-56743638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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	22183965	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
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	22183965	CNVD
Autism	22543975	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1122 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56720400-56764600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:56720600-56747400	Weak transcription	Spleen	Spleen
3	chr4:56720800-56761800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:56721000-56747400	Weak transcription	Aorta	Aorta
5	chr4:56721600-56774600	Weak transcription	Fetal Heart	heart
6	chr4:56722000-56747200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:56724400-56752400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:56727600-56742400	Weak transcription	Right Ventricle	heart
9	chr4:56731600-56744200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:56731800-56747200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:56732600-56754000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:56733200-56747200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr4:56733200-56763000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:56733600-56763000	Weak transcription	Stomach Mucosa	stomach
15	chr4:56733800-56772200	Weak transcription	Hela-S3	cervix
16	chr4:56733800-56772800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr4:56734400-56742400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:56734400-56748800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr4:56734400-56749000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr4:56734400-56751200	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr4:56734400-56773000	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr4:56734600-56745600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:56734600-56748600	Strong transcription	Primary B cells from cord blood	blood
24	chr4:56734600-56753400	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr4:56734600-56773400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:56735000-56768000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:56735400-56750800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr4:56735600-56744800	Weak transcription	Small Intestine	intestine
29	chr4:56735600-56745400	Weak transcription	Esophagus	oesophagus
30	chr4:56735600-56747200	Weak transcription	Gastric	stomach
31	chr4:56736000-56744000	Weak transcription	HSMMtube	muscle
32	chr4:56736000-56762400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr4:56737000-56774800	Weak transcription	Psoas Muscle	Psoas
34	chr4:56737400-56745400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:56737400-56747200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:56737600-56743800	Weak transcription	Fetal Lung	lung
37	chr4:56737600-56744000	Weak transcription	Fetal Kidney	kidney
38	chr4:56737600-56744200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr4:56737600-56744800	Weak transcription	Lung	lung
40	chr4:56737600-56763400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:56737800-56744000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr4:56737800-56744000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr4:56737800-56744600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:56737800-56745200	Weak transcription	Colonic Mucosa	Colon
45	chr4:56737800-56746800	Weak transcription	A549	lung
46	chr4:56738000-56743600	Weak transcription	Brain Hippocampus Middle	brain
47	chr4:56738000-56744000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr4:56738000-56744000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr4:56738000-56744000	Weak transcription	HUVEC	blood vessel
50	chr4:56738000-56744000	Weak transcription	NHEK	skin

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