Variant report

Variant	esv3447453
Chromosome Location	chr4:88323528-88329828
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:88324954-88325285	IMR90	lung:	n/a	chr4:88325115-88325126
2	CEBPB	chr4:88324912-88325282	Hela-S3	cervix:	n/a	chr4:88325115-88325126
3	CEBPB	chr4:88326639-88326655	K562	blood:	n/a	n/a
4	CEBPB	chr4:88324950-88325290	K562	blood:	n/a	chr4:88325115-88325126
5	CEBPB	chr4:88324973-88325272	HepG2	liver:	n/a	chr4:88325115-88325126
6	CEBPB	chr4:88324952-88325256	K562	blood:	n/a	chr4:88325115-88325126
7	CEBPB	chr4:88324796-88325321	K562	blood:	n/a	chr4:88325115-88325126
8	CEBPB	chr4:88324974-88325267	A549	lung:	n/a	chr4:88325115-88325126
9	CEBPD	chr4:88324836-88325287	K562	blood:	n/a	n/a
10	CTCF	chr4:88327660-88327810	HL-60	blood:	n/a	n/a
11	CTCF	chr4:88326010-88326079	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr4:88327816-88327855	K562	blood:	n/a	n/a
13	CTCF	chr4:88327723-88327850	GM12891	blood:	n/a	n/a
14	CTCF	chr4:88327680-88327830	NB4	blood:	n/a	n/a
15	CTCF	chr4:88326874-88326932	GM20000	blood:	n/a	n/a
16	CTCF	chr4:88325020-88325170	HEEpiC	esophagus:	n/a	n/a
17	CTCF	chr4:88325503-88325596	Medullo	brain:	n/a	n/a
18	CTCF	chr4:88327640-88327790	GM12875	blood:	n/a	n/a
19	CTCF	chr4:88327725-88327828	GM19238	blood:	n/a	n/a
20	CTCF	chr4:88327723-88327796	GM19239	blood:	n/a	n/a
21	CTCF	chr4:88325458-88325564	GM10266	blood:	n/a	n/a
22	CTCF	chr4:88327740-88327814	K562	blood:	n/a	n/a
23	ELF1	chr4:88327622-88327938	K562	blood:	n/a	n/a
24	EP300	chr4:88325024-88325231	K562	blood:	n/a	n/a
25	GABPA	chr4:88327619-88327905	K562	blood:	n/a	n/a
26	GABPA	chr4:88327645-88327957	K562	blood:	n/a	n/a
27	GABPA	chr4:88327597-88328112	HL-60	blood:	n/a	n/a
28	GABPA	chr4:88327559-88328053	HL-60	blood:	n/a	n/a
29	GABPA	chr4:88327658-88327891	GM12878	blood:	n/a	n/a
30	GABPA	chr4:88327706-88327882	GM12878	blood:	n/a	n/a
31	GATA2	chr4:88324814-88325284	K562	blood:	n/a	n/a
32	HCFC1	chr4:88327832-88327852	K562	blood:	n/a	n/a
33	KAP1	chr4:88329323-88329695	HEK293	kidney:	n/a	n/a
34	KAP1	chr4:88323329-88323666	U2OS	brain:	n/a	n/a
35	MAX	chr4:88327678-88328045	NB4	blood:	n/a	n/a
36	MYC	chr4:88327670-88328046	NB4	blood:	n/a	n/a
37	MYC	chr4:88324984-88325184	MCF10A-Er-Src	breast:	n/a	n/a
38	NR2F2	chr4:88324895-88325280	K562	blood:	n/a	n/a
39	NR3C1	chr4:88329654-88329897	A549	lung:	n/a	n/a
40	POLR2A	chr4:88329227-88329387	K562	blood:	n/a	n/a
41	POLR2A	chr4:88327594-88328222	NB4	blood:	n/a	n/a
42	POLR2A	chr4:88325008-88325200	K562	blood:	n/a	n/a
43	POLR2A	chr4:88325080-88325121	K562	blood:	n/a	n/a
44	POLR2A	chr4:88325725-88325779	K562	blood:	n/a	n/a
45	RCOR1	chr4:88325008-88325167	K562	blood:	n/a	n/a
46	SETDB1	chr4:88325623-88326432	U2OS	brain:	n/a	n/a
47	SPI1	chr4:88329003-88329128	GM12878	blood:	n/a	n/a
48	SPI1	chr4:88328914-88329140	GM12878	blood:	n/a	n/a
49	SPI1	chr4:88327748-88327933	K562	blood:	n/a	n/a
50	SPI1	chr4:88327663-88327992	GM12891	blood:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:88329509..88332282-chr4:88332311..88334966,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000249262	TF binding region
ENSG00000251716	TF binding region
ENSG00000251716	chromatin interactions

Extended variants
information (count: 228 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:228 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74476618	chr4:88323531-88323532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577287903	chr4:88323543-88323544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536210333	chr4:88323555-88323556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147250019	chr4:88323603-88323604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140972949	chr4:88323607-88323608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537745476	chr4:88323617-88323618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186773991	chr4:88323674-88323675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577348014	chr4:88323700-88323701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191547226	chr4:88323722-88323723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183852991	chr4:88323797-88323798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187680934	chr4:88323806-88323807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192643122	chr4:88323854-88323855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563294236	chr4:88323855-88323856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556412973	chr4:88323862-88323863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11934698	chr4:88323954-88323955	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs6531987	chr4:88323960-88323961	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs112461233	chr4:88324015-88324016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143197373	chr4:88324030-88324031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528258776	chr4:88324044-88324045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112530123	chr4:88324064-88324065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142936193	chr4:88324075-88324076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112810990	chr4:88324107-88324108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113294923	chr4:88324118-88324119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115708325	chr4:88324144-88324145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35724191	chr4:88324175-88324176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537079044	chr4:88324204-88324205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559176579	chr4:88324205-88324206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527834855	chr4:88324221-88324222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552650478	chr4:88324274-88324275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532940303	chr4:88324318-88324319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35145482	chr4:88324326-88324327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577483655	chr4:88324328-88324329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535190844	chr4:88324362-88324363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374316679	chr4:88324363-88324364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552637333	chr4:88324410-88324411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11097150	chr4:88324416-88324417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541938027	chr4:88324543-88324544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563271974	chr4:88324639-88324640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575153021	chr4:88324664-88324665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545501933	chr4:88324675-88324676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564369190	chr4:88324699-88324700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140919407	chr4:88324707-88324708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546341409	chr4:88324741-88324742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201749427	chr4:88324766-88324767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561542206	chr4:88324783-88324784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200287860	chr4:88324787-88324788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529092487	chr4:88324792-88324793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182102315	chr4:88324831-88324832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377429169	chr4:88324836-88324837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570075000	chr4:88324858-88324859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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
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
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	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
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88320600-88329400	Weak transcription	Pancreas	Pancrea
2	chr4:88321000-88327400	Weak transcription	Primary B cells from cord blood	blood
3	chr4:88322000-88327600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:88324400-88325800	Enhancers	Fetal Lung	lung
5	chr4:88324400-88326000	Enhancers	K562	blood
6	chr4:88325200-88325400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:88325200-88325600	Enhancers	Fetal Intestine Large	intestine
8	chr4:88325600-88327000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:88325600-88327600	Weak transcription	Fetal Intestine Large	intestine
10	chr4:88325800-88327800	Weak transcription	Fetal Lung	lung
11	chr4:88326000-88330600	Weak transcription	K562	blood
12	chr4:88326800-88328000	Enhancers	Stomach Mucosa	stomach
13	chr4:88326800-88329600	Enhancers	Duodenum Mucosa	Duodenum
14	chr4:88327000-88327600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:88327000-88327600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:88327000-88328400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr4:88327200-88329400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr4:88327200-88332400	Enhancers	Fetal Intestine Small	intestine
19	chr4:88327400-88327600	Enhancers	Primary B cells from cord blood	blood
20	chr4:88327400-88327600	Enhancers	Primary T cells from cord blood	blood
21	chr4:88327400-88327600	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr4:88327400-88327800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr4:88327400-88328000	Enhancers	Primary hematopoietic stem cells	blood
24	chr4:88327400-88329000	Enhancers	Primary B cells from peripheral blood	blood
25	chr4:88327600-88327800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr4:88327600-88327800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr4:88327600-88328000	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr4:88327600-88328000	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr4:88327600-88328000	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr4:88327600-88328000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr4:88327600-88328000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:88327600-88328000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:88327600-88328000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr4:88327600-88328000	Active TSS	Adipose Nuclei	Adipose
35	chr4:88327600-88328000	Enhancers	Fetal Thymus	thymus
36	chr4:88327600-88328000	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr4:88327600-88328000	Enhancers	Small Intestine	intestine
38	chr4:88327600-88328000	Enhancers	GM12878-XiMat	blood
39	chr4:88327600-88328200	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr4:88327600-88328200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:88327600-88328200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:88327600-88328400	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr4:88327600-88328800	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr4:88327600-88329200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr4:88327600-88332400	Enhancers	Fetal Intestine Large	intestine
46	chr4:88327800-88328000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:88327800-88328000	Enhancers	Liver	Liver
48	chr4:88327800-88328200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr4:88327800-88329000	Enhancers	Fetal Lung	lung
50	chr4:88327800-88330200	Enhancers	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links