Variant report

Variant	esv3467206
Chromosome Location	chr4:76825660-76831970
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	CBX3	chr4:76831950-76832409	K562	blood:	n/a	n/a
2	CEBPB	chr4:76829985-76830018	K562	blood:	n/a	n/a
3	MAX	chr4:76829717-76830134	NB4	blood:	n/a	n/a
4	MYC	chr4:76829203-76829434	NB4	blood:	n/a	n/a
5	MYC	chr4:76829842-76830040	NB4	blood:	n/a	n/a
6	NANOG	chr4:76830658-76830890	H1-hESC	embryonic stem cell:	n/a	n/a
7	POU5F1	chr4:76830662-76830942	H1-hESC	embryonic stem cell:	n/a	n/a
8	POU5F1	chr4:76830565-76831021	H1-hESC	embryonic stem cell:	n/a	n/a
9	SP1	chr4:76830560-76831025	H1-hESC	embryonic stem cell:	n/a	n/a
10	SPI1	chr4:76829207-76829838	HL-60	blood:	n/a	n/a
11	ZNF384	chr4:76829298-76829482	K562	blood:	n/a	n/a

Variant related genes	Relation type
PPEF2	TF binding region

Extended variants
information (count: 262 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35388289	chr4:76825819-76825820	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs34497607	chr4:76825822-76825823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34903442	chr4:76825825-76825826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113791909	chr4:76825830-76825831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13115160	chr4:76825831-76825832	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs59462849	chr4:76825834-76825835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534569960	chr4:76825837-76825838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554191498	chr4:76825846-76825847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139703248	chr4:76825858-76825859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113958826	chr4:76825859-76825860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575484120	chr4:76825927-76825928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113259785	chr4:76825950-76825951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146826626	chr4:76826022-76826023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563228071	chr4:76826066-76826067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148852355	chr4:76826121-76826122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542809488	chr4:76826204-76826205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562174106	chr4:76826217-76826218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573727075	chr4:76826219-76826220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74511942	chr4:76826228-76826229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541386332	chr4:76826230-76826231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542435512	chr4:76826240-76826241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115877103	chr4:76826308-76826309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533089550	chr4:76826379-76826380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372045021	chr4:76826407-76826408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551252193	chr4:76826431-76826432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559532622	chr4:76826439-76826440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560982945	chr4:76826440-76826441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140603199	chr4:76826459-76826460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201888197	chr4:76826476-76826477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530682392	chr4:76826500-76826501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190301830	chr4:76826507-76826508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145487142	chr4:76826533-76826534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145604478	chr4:76826534-76826535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79401279	chr4:76826556-76826557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs578207981	chr4:76826564-76826565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116248809	chr4:76826582-76826583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
37	rs528423764	chr4:76826596-76826597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182120954	chr4:76826605-76826606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571255805	chr4:76826621-76826622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540184566	chr4:76826658-76826659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558448332	chr4:76826666-76826667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568242192	chr4:76826676-76826677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369926573	chr4:76826682-76826683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs72651360	chr4:76826695-76826696	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs543965393	chr4:76826696-76826697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555599046	chr4:76826736-76826737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4546267	chr4:76826742-76826743	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs143425087	chr4:76826776-76826777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112005497	chr4:76826827-76826828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559360019	chr4:76826841-76826842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Glioblastoma multiforme	21922591	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76821600-76831000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr4:76823000-76836600	Weak transcription	Spleen	Spleen
3	chr4:76823600-76835000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr4:76823800-76826200	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr4:76823800-76835000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:76824000-76835200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:76824800-76841000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:76825200-76825800	Enhancers	Fetal Intestine Large	intestine
9	chr4:76825400-76825800	Enhancers	Fetal Intestine Small	intestine
10	chr4:76825600-76827200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:76826200-76827200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr4:76827200-76827600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:76827200-76827800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:76827200-76827800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:76827200-76829200	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr4:76827400-76827600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:76827600-76841000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:76827800-76836600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:76828400-76829200	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:76829200-76829400	Enhancers	Primary B cells from peripheral blood	blood
21	chr4:76829200-76829400	Enhancers	Placenta	Placenta
22	chr4:76829200-76829400	Enhancers	Ovary	ovary
23	chr4:76829200-76829800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:76829200-76830200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr4:76829200-76830400	Enhancers	Fetal Muscle Leg	muscle
26	chr4:76829400-76829600	Enhancers	HSMMtube	muscle
27	chr4:76829400-76829800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr4:76829400-76830200	Enhancers	Primary B cells from cord blood	blood
29	chr4:76829400-76835000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr4:76829400-76836600	Weak transcription	Placenta	Placenta
31	chr4:76829400-76836600	Weak transcription	Ovary	ovary
32	chr4:76829600-76829800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr4:76829600-76829800	Enhancers	HSMM	muscle
34	chr4:76829600-76830000	Active TSS	HSMMtube	muscle
35	chr4:76829800-76830000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr4:76830000-76833000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
37	chr4:76830000-76834200	Weak transcription	HSMMtube	muscle
38	chr4:76830000-76837000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr4:76830200-76831000	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr4:76830200-76835000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr4:76830200-76839600	Weak transcription	Primary B cells from cord blood	blood
42	chr4:76830400-76833800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr4:76830400-76838200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr4:76830400-76838600	Weak transcription	Fetal Muscle Leg	muscle
45	chr4:76830600-76831400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:76830600-76838200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr4:76830800-76836000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr4:76830800-76836800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr4:76831000-76831400	Weak transcription	Primary T cells from cord blood	blood
50	chr4:76831000-76832600	Weak transcription	Monocytes-CD14+_RO01746	blood

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