Variant report

Variant	esv3420327
Chromosome Location	chr4:118564404-118565452
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	4:118558912-118559839..4:118559839-118566258	Hela-S3	cervix:
2	4:118319405-118319911..4:118559839-118566258	H1-hESC	embryonic stem cell:	embryo
3	4:118291537-118294071..4:118559839-118566258	H1-hESC	embryonic stem cell:	embryo
4	4:118357351-118360885..4:118559839-118566258	GM12878	blood:
5	4:118320200-118324249..4:118559839-118566258	GM12878	blood:
6	4:118553216-118555555..4:118559839-118566258	Hela-S3	cervix:
7	4:118334763-118353595..4:118559839-118566258	H1-hESC	embryonic stem cell:	embryo
8	4:118559839-118566258..4:118659345-118667424	GM12878	blood:
9	4:118499433-118507619..4:118559839-118566258	K562	blood:
10	4:118559839-118566258..4:118706981-118715929	Hela-S3	cervix:
11	4:118327401-118331084..4:118559839-118566258	GM12878	blood:
12	4:118383653-118385442..4:118559839-118566258	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
ENSG00000236922	chromatin interactions

Extended variants
information (count: 34 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576809272	chr4:118564452-118564453	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs182902498	chr4:118564456-118564457	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs559200139	chr4:118564496-118564497	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs528167322	chr4:118564505-118564506	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs548407908	chr4:118564514-118564515	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs561825044	chr4:118564537-118564538	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs530718122	chr4:118564618-118564619	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs187007019	chr4:118564632-118564633	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs2635305	chr4:118564642-118564643	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs371981730	chr4:118564701-118564702	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs371272188	chr4:118564739-118564740	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs1489547	chr4:118564748-118564749	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs543607604	chr4:118564751-118564752	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs190245578	chr4:118564762-118564763	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs60485050	chr4:118564771-118564772	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs70941129	chr4:118564773-118564774	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs112184920	chr4:118564832-118564833	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs114066282	chr4:118564868-118564869	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs183020969	chr4:118564893-118564894	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs546936647	chr4:118564957-118564958	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs28375151	chr4:118565038-118565039	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs1610191	chr4:118565061-118565062	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs148814778	chr4:118565120-118565121	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs17866580	chr4:118565173-118565174	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs11930127	chr4:118565194-118565195	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs9991400	chr4:118565209-118565210	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs71608322	chr4:118565220-118565221	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs187654641	chr4:118565221-118565222	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs547924965	chr4:118565239-118565240	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs561728474	chr4:118565322-118565323	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs530676951	chr4:118565388-118565389	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs373525097	chr4:118565389-118565390	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs550477294	chr4:118565440-118565441	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs570283632	chr4:118565445-118565446	Weak transcription	Chromatin interactive region	1 gene(s)	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	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
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Autism	19246517	CNVD
Schizophrenia	23813976	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:118559000-118574400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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