Variant report

Variant	esv1805095
Chromosome Location	chr4:86571360-86572581
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:86564011..86565733-chr4:86571511..86573715,2	K562	blood:
2	chr4:86569531..86572114-chr4:86574958..86577590,2	MCF-7	breast:
3	chr4:86562691..86565511-chr4:86569928..86573011,3	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183095884	chr4:86571377-86571378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77481781	chr4:86571430-86571431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188132501	chr4:86571463-86571464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561469336	chr4:86571488-86571489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552392858	chr4:86571515-86571516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77776367	chr4:86571547-86571548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531390693	chr4:86571625-86571626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548004615	chr4:86571695-86571696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191469262	chr4:86571720-86571721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143116828	chr4:86571725-86571726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183604102	chr4:86571807-86571808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533541452	chr4:86571808-86571809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201882782	chr4:86571813-86571814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4693727	chr4:86571814-86571815	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs192557593	chr4:86571815-86571816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4693728	chr4:86571816-86571817	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs151189488	chr4:86571820-86571821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369159082	chr4:86571852-86571853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547019251	chr4:86571854-86571855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567341683	chr4:86571855-86571856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7654408	chr4:86571975-86571976	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs555965663	chr4:86571990-86571991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7655020	chr4:86572054-86572055	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs7654724	chr4:86572099-86572100	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs538315509	chr4:86572115-86572116	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553825876	chr4:86572141-86572142	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6531847	chr4:86572179-86572180	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs78155467	chr4:86572211-86572212	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs397994354	chr4:86572215-86572216	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145551766	chr4:86572296-86572297	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200471864	chr4:86572340-86572341	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561608006	chr4:86572361-86572362	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6817221	chr4:86572446-86572447	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs544019883	chr4:86572452-86572453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565216829	chr4:86572474-86572475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185424271	chr4:86572479-86572480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540997550	chr4:86572491-86572492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559334247	chr4:86572520-86572521	Weak transcription Enhancers	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
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
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
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
Prostate cancer	16573809	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86551400-86575200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:86559600-86576600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr4:86559800-86580200	Weak transcription	Fetal Muscle Leg	muscle
4	chr4:86561800-86582800	Weak transcription	K562	blood
5	chr4:86562400-86579000	Weak transcription	Right Ventricle	heart
6	chr4:86564000-86574400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr4:86566200-86579600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:86570200-86572400	Strong transcription	Primary B cells from cord blood	blood
9	chr4:86570200-86573600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:86570200-86593600	Weak transcription	HSMM	muscle
11	chr4:86570400-86575400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:86572000-86572400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr4:86572000-86572400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:86572000-86572600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:86572200-86572400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr4:86572200-86572400	Enhancers	Pancreas	Pancrea
17	chr4:86572200-86572600	Enhancers	NHEK	skin
18	chr4:86572400-86575000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:86572400-86577800	Weak transcription	Primary B cells from cord blood	blood
20	chr4:86572400-86580200	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links