Variant report

Variant	nsv879004
Chromosome Location	chr4:47234200-47322190
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	chr4:47317409-47317707	GM12878	blood:	n/a	chr4:47317561-47317572
2	BATF	chr4:47317343-47317703	GM12878	blood:	n/a	chr4:47317561-47317572
3	BCL11A	chr4:47317305-47317629	GM12878	blood:	n/a	n/a
4	CEBPB	chr4:47260694-47260972	HepG2	liver:	n/a	chr4:47260839-47260850
5	CEBPB	chr4:47280635-47280959	HepG2	liver:	n/a	chr4:47280808-47280819
6	CEBPB	chr4:47237851-47238009	IMR90	lung:	n/a	n/a
7	CEBPB	chr4:47260662-47260999	IMR90	lung:	n/a	chr4:47260839-47260850
8	CEBPB	chr4:47289844-47290149	IMR90	lung:	n/a	n/a
9	CEBPB	chr4:47280686-47280953	IMR90	lung:	n/a	chr4:47280808-47280819
10	CEBPB	chr4:47260700-47260956	H1-hESC	embryonic stem cell:	n/a	chr4:47260839-47260850
11	CEBPB	chr4:47318422-47318697	A549	lung:	n/a	chr4:47318538-47318549
12	CEBPB	chr4:47280681-47280881	A549	lung:	n/a	chr4:47280808-47280819
13	CEBPB	chr4:47291312-47291477	A549	lung:	n/a	n/a
14	CEBPB	chr4:47318394-47318664	IMR90	lung:	n/a	chr4:47318538-47318549
15	CEBPB	chr4:47270460-47270537	IMR90	lung:	n/a	n/a
16	CEBPB	chr4:47291320-47291532	IMR90	lung:	n/a	n/a
17	CEBPB	chr4:47318483-47318682	HepG2	liver:	n/a	chr4:47318538-47318549
18	CEBPB	chr4:47318453-47318600	K562	blood:	n/a	chr4:47318538-47318549
19	CEBPB	chr4:47260706-47260995	K562	blood:	n/a	chr4:47260839-47260850
20	CHD2	chr4:47289708-47289788	GM12878	blood:	n/a	n/a
21	CTCF	chr4:47280400-47280550	HCPEpiC	choroid plexus:	n/a	n/a
22	CTCF	chr4:47277260-47277410	GM06990	blood:	n/a	n/a
23	CTCF	chr4:47277200-47277350	HPAF	blood vessel:	n/a	n/a
24	CTCF	chr4:47277220-47277370	HCM	heart:	n/a	n/a
25	CTCF	chr4:47290582-47290716	GM12878	blood:	n/a	n/a
26	CTCF	chr4:47277300-47277450	GM12864	blood:	n/a	n/a
27	CTCF	chr4:47277220-47277370	HepG2	liver:	n/a	n/a
28	CTCF	chr4:47290600-47290750	HMEC	breast:	n/a	n/a
29	CTCF	chr4:47277180-47277330	HCPEpiC	choroid plexus:	n/a	n/a
30	CTCF	chr4:47277180-47277330	GM12872	blood:	n/a	n/a
31	CTCF	chr4:47277300-47277450	Caco-2	colon:	n/a	n/a
32	CTCF	chr4:47290600-47290750	BJ	skin:	n/a	n/a
33	CTCF	chr4:47290655-47290688	HUVEC	blood vessel:	n/a	n/a
34	E2F4	chr4:47304687-47304997	MCF10A-Er-Src	breast:	n/a	n/a
35	E2F4	chr4:47290127-47290256	MCF10A-Er-Src	breast:	n/a	n/a
36	E2F4	chr4:47235902-47236132	MCF10A-Er-Src	breast:	n/a	n/a
37	E2F4	chr4:47321639-47321830	MCF10A-Er-Src	breast:	n/a	n/a
38	EBF1	chr4:47291055-47291358	GM12878	blood:	n/a	n/a
39	EBF1	chr4:47292012-47292437	GM12878	blood:	n/a	chr4:47292275-47292286
40	EBF1	chr4:47289788-47290051	GM12878	blood:	n/a	n/a
41	EBF1	chr4:47315301-47315889	GM12878	blood:	n/a	n/a
42	EBF1	chr4:47317342-47317723	GM12878	blood:	n/a	n/a
43	EP300	chr4:47317417-47317565	GM12878	blood:	n/a	n/a
44	EP300	chr4:47317386-47317619	GM12878	blood:	n/a	n/a
45	EP300	chr4:47276876-47276956	HepG2	liver:	n/a	n/a
46	FOS	chr4:47317387-47317736	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr4:47269964-47270164	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr4:47317380-47317778	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr4:47317349-47317783	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr4:47317357-47317743	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000238301	TF binding region

Extended variants
information (count: 1593 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1593 , 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	rs573952756	chr4:47234480-47234481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149138877	chr4:47234510-47234511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183646874	chr4:47234553-47234554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145146833	chr4:47234561-47234562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17600169	chr4:47234578-47234579	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs562331044	chr4:47234581-47234582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539798712	chr4:47234583-47234584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188738197	chr4:47234627-47234628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570328276	chr4:47234709-47234710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537774997	chr4:47234735-47234736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555975405	chr4:47234820-47234821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574196053	chr4:47234887-47234888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11357071	chr4:47234894-47234895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371110014	chr4:47234910-47234911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534704131	chr4:47234914-47234915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529884986	chr4:47234915-47234916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111491457	chr4:47234924-47234925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577668161	chr4:47234931-47234932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544571879	chr4:47234937-47234938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562980460	chr4:47235015-47235016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575176181	chr4:47235019-47235020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558188905	chr4:47235027-47235028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542563214	chr4:47235066-47235067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561127662	chr4:47235076-47235077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185009953	chr4:47235091-47235092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546778947	chr4:47235107-47235108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372805528	chr4:47235121-47235122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187884800	chr4:47235123-47235124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6852194	chr4:47235135-47235136	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs560226582	chr4:47235179-47235180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375937966	chr4:47235188-47235189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533479078	chr4:47235220-47235221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191452405	chr4:47235301-47235302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76242315	chr4:47235304-47235305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368488818	chr4:47235313-47235314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142128363	chr4:47235314-47235315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531226975	chr4:47235347-47235348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183659503	chr4:47235352-47235353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527257243	chr4:47235380-47235381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145827671	chr4:47235425-47235426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187971601	chr4:47235449-47235450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73815417	chr4:47235452-47235453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192602189	chr4:47235453-47235454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552174044	chr4:47235480-47235481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113712076	chr4:47235591-47235592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141705105	chr4:47235602-47235603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73815418	chr4:47235621-47235622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs571112761	chr4:47235755-47235756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35660900	chr4:47235784-47235785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574936090	chr4:47235797-47235798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47234400-47235000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr4:47235000-47238000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:47237200-47237800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:47238000-47238400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:47238400-47239800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:47239800-47242600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:47240400-47243600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:47240400-47243600	Enhancers	Osteobl	bone
9	chr4:47240800-47242000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:47242000-47243200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:47242600-47243000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:47243000-47243400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:47243200-47243600	Enhancers	Fetal Kidney	kidney
14	chr4:47243400-47243600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:47243600-47243800	Enhancers	Brain Angular Gyrus	brain
16	chr4:47253000-47253600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:47253200-47254000	Enhancers	Placenta Amnion	Placenta Amnion
18	chr4:47253400-47254000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr4:47253400-47254000	Enhancers	Brain Anterior Caudate	brain
20	chr4:47253600-47253800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:47253600-47254000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:47253600-47254000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:47253600-47254000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:47253600-47254000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:47253800-47254400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:47270400-47273600	Enhancers	Brain Anterior Caudate	brain
27	chr4:47270400-47273600	Enhancers	Fetal Brain Male	brain
28	chr4:47270800-47271000	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr4:47271000-47272000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr4:47271200-47273000	Enhancers	Brain Substantia Nigra	brain
31	chr4:47271200-47273600	Enhancers	Brain Germinal Matrix	brain
32	chr4:47271400-47274400	Enhancers	Fetal Brain Female	brain
33	chr4:47271600-47273000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr4:47271600-47273600	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr4:47271600-47273600	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr4:47271800-47272400	Enhancers	Brain Hippocampus Middle	brain
37	chr4:47271800-47272400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr4:47271800-47273200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:47272000-47272600	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr4:47272000-47273600	Enhancers	Brain Angular Gyrus	brain
41	chr4:47272200-47272800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:47272200-47272800	Enhancers	Fetal Stomach	stomach
43	chr4:47272200-47274200	Enhancers	Brain Cingulate Gyrus	brain
44	chr4:47272400-47272800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr4:47272400-47273000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:47272400-47273400	Weak transcription	Brain Hippocampus Middle	brain
47	chr4:47272400-47280600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr4:47272600-47273000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr4:47273000-47274000	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr4:47273200-47280600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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