Variant report

Variant	esv3361742
Chromosome Location	chr4:88031428-88033676
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	ARID3A	chr4:88033310-88033619	K562	blood:	n/a	n/a
2	ATF1	chr4:88033199-88033731	K562	blood:	n/a	n/a
3	BHLHE40	chr4:88033233-88033667	K562	blood:	n/a	n/a
4	CCNT2	chr4:88033192-88033691	K562	blood:	n/a	n/a
5	CEBPB	chr4:88033260-88033516	K562	blood:	n/a	n/a
6	CEBPB	chr4:88031097-88031444	K562	blood:	n/a	chr4:88031262-88031275 chr4:88031262-88031275 chr4:88031264-88031275 chr4:88031262-88031275 chr4:88031262-88031273
7	CREB1	chr4:88033261-88033893	K562	blood:	n/a	n/a
8	CTCF	chr4:88033272-88033316	ProgFib	skin:	n/a	n/a
9	CUX1	chr4:88033179-88033948	K562	blood:	n/a	n/a
10	EP300	chr4:88033379-88033570	K562	blood:	n/a	n/a
11	EP300	chr4:88033349-88033706	K562	blood:	n/a	chr4:88033584-88033598 chr4:88033596-88033605
12	GATA1	chr4:88032918-88033833	PBDE	blood:	n/a	chr4:88033592-88033603
13	HMGN3	chr4:88033211-88033663	K562	blood:	n/a	n/a
14	IRF1	chr4:88031388-88031447	K562	blood:	n/a	n/a
15	JUND	chr4:88033172-88033705	K562	blood:	n/a	chr4:88033510-88033517 chr4:88033264-88033273
16	MAFK	chr4:88033291-88033564	K562	blood:	n/a	n/a
17	MAZ	chr4:88033135-88033230	K562	blood:	n/a	n/a
18	MYC	chr4:88031935-88031988	MCF10A-Er-Src	breast:	n/a	n/a
19	MYC	chr4:88033301-88033458	K562	blood:	n/a	n/a
20	NFYA	chr4:88033289-88033417	GM12878	blood:	n/a	n/a
21	POLR2A	chr4:88033242-88033277	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr4:88033069-88033329	GM12878	blood:	n/a	n/a
23	POLR2A	chr4:88033098-88033798	K562	blood:	n/a	n/a
24	POLR2A	chr4:88033021-88033487	HepG2	liver:	n/a	n/a
25	POLR2A	chr4:88033166-88033223	K562	blood:	n/a	n/a
26	POLR2A	chr4:88032758-88033779	GM12878	blood:	n/a	n/a
27	RCOR1	chr4:88033427-88033635	K562	blood:	n/a	n/a
28	RCOR1	chr4:88033204-88033694	K562	blood:	n/a	n/a
29	RFX5	chr4:88033294-88033336	K562	blood:	n/a	n/a
30	TAL1	chr4:88033335-88033728	K562	blood:	n/a	n/a
31	TBL1XR1	chr4:88033378-88033665	K562	blood:	n/a	n/a
32	TBP	chr4:88033502-88033503	GM12878	blood:	n/a	n/a
33	ZMIZ1	chr4:88033489-88033614	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:88032951..88035880-chr4:88037819..88039540,2	MCF-7	breast:
2	chr4:88030647..88032451-chr4:88032787..88035472,2	MCF-7	breast:
3	chr4:88033201..88035893-chr4:88037501..88039381,2	K562	blood:
4	chr4:87927502..87929232-chr4:88032262..88034654,2	MCF-7	breast:
5	chr4:88030647..88032451-chr4:88032787..88035472,2	MCF-7	breast:

Variant related genes	Relation type
AFF1	TF binding region
ENSG00000172493	chromatin interactions

Extended variants
information (count: 77 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114332111	chr4:88031453-88031454	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541159328	chr4:88031455-88031456	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186204251	chr4:88031511-88031512	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541627534	chr4:88031557-88031558	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559729554	chr4:88031568-88031569	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190271825	chr4:88031584-88031585	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201127757	chr4:88031594-88031595	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140313026	chr4:88031603-88031604	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563505584	chr4:88031631-88031632	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs70957206	chr4:88031636-88031637	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs397757069	chr4:88031640-88031641	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550099255	chr4:88031645-88031646	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542163296	chr4:88031655-88031656	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112545625	chr4:88031709-88031710	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141958564	chr4:88031736-88031737	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs71607405	chr4:88031762-88031763	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs529228161	chr4:88031853-88031854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144095714	chr4:88031888-88031889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182854334	chr4:88031905-88031906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs80044550	chr4:88031919-88031920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546661637	chr4:88031971-88031972	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs534775963	chr4:88031983-88031984	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs186074292	chr4:88032017-88032018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535644196	chr4:88032041-88032042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75921854	chr4:88032096-88032097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569123297	chr4:88032097-88032098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563323545	chr4:88032153-88032154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376686168	chr4:88032154-88032155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187625472	chr4:88032156-88032157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13132380	chr4:88032159-88032160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558643967	chr4:88032160-88032161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13132391	chr4:88032169-88032170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577150680	chr4:88032263-88032264	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs534834537	chr4:88032267-88032268	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs369966351	chr4:88032284-88032285	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs13104995	chr4:88032291-88032292	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs13110302	chr4:88032323-88032324	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs113316557	chr4:88032416-88032417	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs553427441	chr4:88032420-88032421	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs113230830	chr4:88032448-88032449	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs112503700	chr4:88032458-88032459	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs111790412	chr4:88032465-88032466	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs574974119	chr4:88032598-88032599	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs541977976	chr4:88032599-88032600	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs556960721	chr4:88032608-88032609	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs60757751	chr4:88032751-88032752	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs575505513	chr4:88032754-88032755	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs183314282	chr4:88032757-88032758	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs201170000	chr4:88032767-88032768	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs7440770	chr4:88032797-88032798	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:81)

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
lymphocytic leukemia	21291569	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
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
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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Pancreatic cancer	17952125	CNVD
Renal cell carcinoma	20952505	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87995400-88037800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:88011800-88032800	Weak transcription	Colonic Mucosa	Colon
3	chr4:88015800-88035400	Weak transcription	Right Ventricle	heart
4	chr4:88018600-88034200	Weak transcription	Fetal Stomach	stomach
5	chr4:88019000-88072200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:88021000-88034200	Weak transcription	Spleen	Spleen
7	chr4:88021600-88036600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:88021600-88037800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:88021800-88036000	Weak transcription	Brain Angular Gyrus	brain
10	chr4:88025600-88034200	Weak transcription	Lung	lung
11	chr4:88025600-88035600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:88025600-88035800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr4:88026200-88031800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:88026200-88042200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr4:88026400-88042400	Strong transcription	Primary B cells from peripheral blood	blood
16	chr4:88026400-88063600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr4:88026600-88031800	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr4:88026600-88031800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr4:88026600-88031800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:88026600-88033600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr4:88026600-88042200	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr4:88026600-88042600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr4:88026600-88055600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:88026800-88032000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr4:88026800-88032800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr4:88026800-88035800	Weak transcription	Brain Substantia Nigra	brain
27	chr4:88027000-88032800	Weak transcription	Fetal Kidney	kidney
28	chr4:88027000-88033000	Weak transcription	Stomach Mucosa	stomach
29	chr4:88027000-88035400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr4:88027000-88037600	Strong transcription	Liver	Liver
31	chr4:88028400-88035800	Weak transcription	Psoas Muscle	Psoas
32	chr4:88028800-88032800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr4:88029200-88035400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr4:88029400-88034200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:88029600-88031600	Strong transcription	Placenta	Placenta
36	chr4:88029600-88032800	Weak transcription	Ovary	ovary
37	chr4:88029600-88033000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:88029600-88033000	Weak transcription	Left Ventricle	heart
39	chr4:88029600-88034200	Weak transcription	Esophagus	oesophagus
40	chr4:88029600-88034200	Weak transcription	Fetal Muscle Leg	muscle
41	chr4:88029600-88034200	Weak transcription	Gastric	stomach
42	chr4:88029600-88034400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr4:88029600-88035400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr4:88029600-88035800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr4:88029600-88035800	Weak transcription	Aorta	Aorta
46	chr4:88029600-88035800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr4:88029600-88035800	Weak transcription	Pancreas	Pancrea
48	chr4:88029600-88035800	Weak transcription	Right Atrium	heart
49	chr4:88029600-88036000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr4:88029600-88036200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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