Variant report

Variant	esv32610
Chromosome Location	chr4:130062342-130065491
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	CTCF	chr4:130064179-130064257	GM10248	blood:	n/a	n/a
2	MAFF	chr4:130064603-130064840	K562	blood:	n/a	chr4:130064716-130064730 chr4:130064710-130064728
3	MAFF	chr4:130064545-130064814	HepG2	liver:	n/a	chr4:130064716-130064730 chr4:130064710-130064728
4	MAFK	chr4:130064550-130064865	IMR90	lung:	n/a	chr4:130064716-130064730 chr4:130064713-130064733 chr4:130064712-130064727 chr4:130064715-130064731
5	MAFK	chr4:130064566-130064793	HepG2	liver:	n/a	chr4:130064716-130064730 chr4:130064713-130064733 chr4:130064712-130064727 chr4:130064715-130064731
6	MAFK	chr4:130064559-130064887	HepG2	liver:	n/a	chr4:130064716-130064730 chr4:130064713-130064733 chr4:130064712-130064727 chr4:130064715-130064731
7	MAFK	chr4:130063782-130063964	HepG2	liver:	n/a	chr4:130063838-130063852 chr4:130063839-130063850 chr4:130063840-130063860 chr4:130063839-130063850 chr4:130063839-130063855
8	MAFK	chr4:130064546-130064806	K562	blood:	n/a	chr4:130064716-130064730 chr4:130064713-130064733 chr4:130064712-130064727 chr4:130064715-130064731
9	POLR2A	chr4:130062875-130062895	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr4:130065324-130065722	K562	blood:	n/a	n/a
11	RFX5	chr4:130063335-130063527	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:130061469..130063287-chr4:130063449..130064968,2	K562	blood:
2	chr4:130061469..130063287-chr4:130063449..130064968,2	K562	blood:

Variant related genes	Relation type
ZSWIM5P3	TF binding region

Extended variants
information (count: 90 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572451973	chr4:130062342-130062343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546554293	chr4:130062356-130062357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527733016	chr4:130062376-130062377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547665007	chr4:130062418-130062419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531884826	chr4:130062487-130062488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140727519	chr4:130062523-130062524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs80334765	chr4:130062561-130062562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs337264	chr4:130062624-130062625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs10015741	chr4:130062625-130062626	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs532748530	chr4:130062643-130062644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181657973	chr4:130062678-130062679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs137886333	chr4:130062682-130062683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111438053	chr4:130062741-130062742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142455155	chr4:130062762-130062763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71613914	chr4:130062778-130062779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs143970075	chr4:130062827-130062828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535984690	chr4:130062832-130062833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187574322	chr4:130062835-130062836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34232899	chr4:130062842-130062843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572537352	chr4:130062845-130062846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546241697	chr4:130062884-130062885	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs148240302	chr4:130062886-130062887	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs112875690	chr4:130062978-130062979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190908287	chr4:130062992-130062993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150775099	chr4:130062996-130062997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529425018	chr4:130063009-130063010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540760749	chr4:130063064-130063065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559035775	chr4:130063079-130063080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536674698	chr4:130063095-130063096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532832602	chr4:130063140-130063141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552293133	chr4:130063336-130063337	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs139723859	chr4:130063354-130063355	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs116244622	chr4:130063425-130063426	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs182332950	chr4:130063470-130063471	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs548988009	chr4:130063493-130063494	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs567506231	chr4:130063494-130063495	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs544875319	chr4:130063507-130063508	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs185129439	chr4:130063556-130063557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566183116	chr4:130063565-130063566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189838347	chr4:130063706-130063707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558171751	chr4:130063714-130063715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17014265	chr4:130063751-130063752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs371138263	chr4:130063904-130063905	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs544122484	chr4:130063910-130063911	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs555768363	chr4:130063916-130063917	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs573957453	chr4:130063989-130063990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541245925	chr4:130064003-130064004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537908231	chr4:130064019-130064020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372722214	chr4:130064026-130064027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145298694	chr4:130064067-130064068	Weak transcription	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
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130060200-130065800	Weak transcription	K562	blood
2	chr4:130060400-130062800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:130060400-130063400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:130060400-130065800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr4:130060400-130066000	Weak transcription	Pancreas	Pancrea
6	chr4:130062800-130063000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:130062800-130063200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:130062800-130063200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:130062800-130063400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:130063000-130063200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:130063200-130065800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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