Variant report

Variant	nsv290889
Chromosome Location	chr4:86654235-86655789
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:86651967..86654284-chr4:86654909..86657180,2	K562	blood:
2	chr4:86655653..86657316-chr4:86662237..86664343,2	MCF-7	breast:
3	chr4:86651967..86654284-chr4:86654909..86657180,2	K562	blood:
4	chr4:86655699..86658214-chr4:86658665..86660389,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376955069	chr4:86654235-86654236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371517634	chr4:86654236-86654237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs57112074	chr4:86654237-86654238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373037127	chr4:86654238-86654239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs180737	chr4:86654274-86654275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190215285	chr4:86654309-86654310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2869379	chr4:86654312-86654313	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs168240	chr4:86654324-86654325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182428341	chr4:86654335-86654336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185237183	chr4:86654341-86654342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532326472	chr4:86654342-86654343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555927784	chr4:86654370-86654371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146912962	chr4:86654375-86654376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552485577	chr4:86654382-86654383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112826066	chr4:86654397-86654398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112400544	chr4:86654398-86654399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35253588	chr4:86654402-86654403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548177031	chr4:86654467-86654468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2869380	chr4:86654477-86654478	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs537088239	chr4:86654479-86654480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190660025	chr4:86654495-86654496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571063991	chr4:86654496-86654497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4302455	chr4:86654508-86654509	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs184099344	chr4:86654571-86654572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574840230	chr4:86654640-86654641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2601861	chr4:86654663-86654664	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs557062386	chr4:86654703-86654704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114245848	chr4:86654716-86654717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543460926	chr4:86654744-86654745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141558312	chr4:86654745-86654746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563425736	chr4:86654760-86654761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4507354	chr4:86654789-86654790	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs150300313	chr4:86654878-86654879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541195024	chr4:86654913-86654914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs59550244	chr4:86654917-86654918	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs6813799	chr4:86654936-86654937	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs548301697	chr4:86655006-86655007	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs559522486	chr4:86655008-86655009	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs188607954	chr4:86655023-86655024	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs193155346	chr4:86655048-86655049	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs551886867	chr4:86655074-86655075	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs571097946	chr4:86655089-86655090	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs182872646	chr4:86655112-86655113	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs570652615	chr4:86655122-86655123	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs6813860	chr4:86655128-86655129	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs535700054	chr4:86655132-86655133	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs557025861	chr4:86655139-86655140	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs575344571	chr4:86655140-86655141	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs117097538	chr4:86655168-86655169	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs557891475	chr4:86655233-86655234	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86647000-86655400	Weak transcription	Brain Angular Gyrus	brain
2	chr4:86647200-86658200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr4:86647800-86654600	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:86647800-86655600	Weak transcription	Small Intestine	intestine
5	chr4:86647800-86656600	Weak transcription	Brain Anterior Caudate	brain
6	chr4:86647800-86656600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:86647800-86662600	Weak transcription	Left Ventricle	heart
8	chr4:86647800-86662600	Weak transcription	Spleen	Spleen
9	chr4:86648000-86654800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:86648000-86655200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr4:86648200-86654600	Weak transcription	Primary B cells from cord blood	blood
12	chr4:86648400-86662600	Weak transcription	Pancreas	Pancrea
13	chr4:86649000-86654800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr4:86649000-86655200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:86650200-86655200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr4:86650400-86662400	Weak transcription	Adipose Nuclei	Adipose
17	chr4:86650800-86656000	Weak transcription	HSMMtube	muscle
18	chr4:86651200-86655600	Weak transcription	HSMM	muscle
19	chr4:86651400-86654600	Weak transcription	Brain Hippocampus Middle	brain
20	chr4:86653000-86655000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:86653000-86655400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:86653000-86658600	Enhancers	Primary B cells from peripheral blood	blood
23	chr4:86653600-86655000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr4:86653600-86655200	Weak transcription	NHDF-Ad	bronchial
25	chr4:86653600-86655400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:86653600-86655400	Weak transcription	Ovary	ovary
27	chr4:86653800-86654600	Weak transcription	GM12878-XiMat	blood
28	chr4:86653800-86654800	Weak transcription	Stomach Mucosa	stomach
29	chr4:86653800-86655000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:86653800-86655200	Weak transcription	Fetal Heart	heart
31	chr4:86653800-86662200	Weak transcription	Fetal Muscle Leg	muscle
32	chr4:86654600-86655000	Enhancers	GM12878-XiMat	blood
33	chr4:86654600-86655200	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr4:86654600-86655400	Enhancers	Colon Smooth Muscle	Colon
35	chr4:86654600-86656200	Enhancers	Primary B cells from cord blood	blood
36	chr4:86654600-86656400	Enhancers	Brain Substantia Nigra	brain
37	chr4:86654600-86657000	Enhancers	Brain Hippocampus Middle	brain
38	chr4:86654600-86659000	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr4:86654800-86655000	Enhancers	Stomach Mucosa	stomach
40	chr4:86654800-86655600	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr4:86654800-86655800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr4:86654800-86656200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:86655000-86655400	Weak transcription	Stomach Mucosa	stomach
44	chr4:86655000-86655400	Flanking Active TSS	GM12878-XiMat	blood
45	chr4:86655000-86655800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr4:86655000-86657000	Enhancers	Brain Cingulate Gyrus	brain
47	chr4:86655000-86664200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:86655200-86655800	Enhancers	Primary hematopoietic stem cells	blood
49	chr4:86655200-86656000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr4:86655200-86656200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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