Variant report

Variant	esv3410993
Chromosome Location	chr4:142766396-142796721
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:142782252..142782833-chr4:143767690..143768206,2	MCF-7	breast:
2	chr4:142781808..142782795-chr4:143048083..143048829,2	MCF-7	breast:

Extended variants
information (count: 652 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:652 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4956418	chr4:142766496-142766497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs571256641	chr4:142766543-142766544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563620945	chr4:142766587-142766588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142396695	chr4:142766620-142766621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545770342	chr4:142766621-142766622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564173932	chr4:142766647-142766648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs17015102	chr4:142766826-142766827	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs187741755	chr4:142766837-142766838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375836858	chr4:142766872-142766873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529423664	chr4:142766956-142766957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551192905	chr4:142766980-142766981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145972785	chr4:142767064-142767065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148233967	chr4:142767077-142767078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557904280	chr4:142767114-142767115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141257507	chr4:142767167-142767168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34149346	chr4:142767180-142767181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553419583	chr4:142767229-142767230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190884338	chr4:142767269-142767270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150809238	chr4:142767314-142767315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138078670	chr4:142767315-142767316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183249219	chr4:142767326-142767327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527744269	chr4:142767328-142767329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13131451	chr4:142767388-142767389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556351600	chr4:142767399-142767400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369342005	chr4:142767402-142767403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552642302	chr4:142767426-142767427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187243552	chr4:142767468-142767469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75149625	chr4:142767489-142767490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564260595	chr4:142767502-142767503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4956308	chr4:142767535-142767536	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs540629609	chr4:142767582-142767583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562232886	chr4:142767630-142767631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192167235	chr4:142767729-142767730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550881594	chr4:142767769-142767770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563040147	chr4:142767778-142767779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371261433	chr4:142767793-142767794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550474417	chr4:142767822-142767823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184646471	chr4:142767826-142767827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370043673	chr4:142767830-142767831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566582814	chr4:142767835-142767836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188187996	chr4:142767856-142767857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568742017	chr4:142767911-142767912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373463677	chr4:142767932-142767933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115692387	chr4:142767999-142768000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538173983	chr4:142768046-142768047	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556198964	chr4:142768076-142768077	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142382530	chr4:142768102-142768103	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538447491	chr4:142768105-142768106	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12646138	chr4:142768106-142768107	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs573039787	chr4:142768107-142768108	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
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
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142763200-142769800	Weak transcription	Liver	Liver
2	chr4:142763800-142766800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:142766800-142768000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:142767000-142767800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:142767200-142767600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:142767200-142767600	Enhancers	NHEK	skin
7	chr4:142767600-142772200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:142767600-142772400	Weak transcription	NHEK	skin
9	chr4:142767800-142772200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:142768000-142768200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:142768000-142768400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:142768200-142768800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:142768800-142769200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:142769800-142770400	Enhancers	Liver	Liver
15	chr4:142770000-142771600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:142770400-142770800	Flanking Active TSS	Liver	Liver
17	chr4:142770400-142771200	Enhancers	Fetal Intestine Large	intestine
18	chr4:142770600-142771400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:142770600-142771600	Enhancers	A549	lung
20	chr4:142770800-142771600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:142770800-142775200	Enhancers	Liver	Liver
22	chr4:142771000-142773200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:142771200-142774200	Weak transcription	Fetal Intestine Large	intestine
24	chr4:142771600-142772200	Weak transcription	A549	lung
25	chr4:142772200-142772800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:142772200-142772800	Enhancers	Esophagus	oesophagus
27	chr4:142772200-142772800	Enhancers	A549	lung
28	chr4:142772200-142773400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:142772200-142775400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:142772400-142772600	Enhancers	Hela-S3	cervix
31	chr4:142772400-142775200	Enhancers	NHEK	skin
32	chr4:142772600-142772800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:142772600-142774600	Weak transcription	Hela-S3	cervix
34	chr4:142772800-142774400	Weak transcription	A549	lung
35	chr4:142773000-142773200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr4:142773000-142774400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:142773400-142774400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr4:142773400-142774600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:142774200-142775000	Enhancers	Fetal Intestine Large	intestine
40	chr4:142774400-142775000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:142774400-142775000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr4:142774400-142775000	Enhancers	Osteobl	bone
43	chr4:142774400-142775200	Enhancers	A549	lung
44	chr4:142774600-142774800	Active TSS	Duodenum Mucosa	Duodenum
45	chr4:142774600-142775000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:142774600-142775000	Enhancers	Fetal Intestine Small	intestine
47	chr4:142774600-142775200	Enhancers	Hela-S3	cervix
48	chr4:142774800-142775000	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr4:142774800-142775200	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr4:142774800-142775200	Enhancers	Rectal Mucosa Donor 31	rectum

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