Variant report

Variant	nsv526211
Chromosome Location	chr4:86666893-86677107
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:86339378..86339952-chr4:86669138..86670126,2	MCF-7	breast:
2	chr4:86669258..86671290-chr4:86671366..86674206,2	MCF-7	breast:
3	chr4:86666068..86669056-chr4:86671482..86673807,2	K562	blood:
4	chr4:86666068..86669056-chr4:86671482..86673807,2	K562	blood:
5	chr4:86068869..86069585-chr4:86668543..86669322,2	MCF-7	breast:
6	chr4:86669258..86671290-chr4:86671366..86674206,2	MCF-7	breast:
7	chr4:86068522..86069297-chr4:86668912..86669717,2	MCF-7	breast:
8	chr4:86669212..86669756-chr4:86677606..86678326,2	MCF-7	breast:

No data

Extended variants
information (count: 370 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4693125	chr4:86666893-86666894	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184776643	chr4:86666914-86666915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556182118	chr4:86666928-86666929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554546695	chr4:86666955-86666956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115837816	chr4:86666958-86666959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6823010	chr4:86666980-86666981	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs555006541	chr4:86667027-86667028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200629975	chr4:86667050-86667051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368510756	chr4:86667055-86667056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188194604	chr4:86667099-86667100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs180684670	chr4:86667104-86667105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186447929	chr4:86667148-86667149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568178485	chr4:86667184-86667185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs71599427	chr4:86667218-86667219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201087271	chr4:86667268-86667269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568148281	chr4:86667281-86667282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544890144	chr4:86667335-86667336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533767672	chr4:86667421-86667422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141396620	chr4:86667433-86667434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527445585	chr4:86667477-86667478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72656275	chr4:86667557-86667558	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs561012454	chr4:86667558-86667559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368782503	chr4:86667575-86667576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs180699147	chr4:86667589-86667590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7696560	chr4:86667613-86667614	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs200555391	chr4:86667659-86667660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75228971	chr4:86667698-86667699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558129482	chr4:86667732-86667733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571146901	chr4:86667755-86667756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144612183	chr4:86667756-86667757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535517037	chr4:86667779-86667780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370517072	chr4:86667780-86667781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34432787	chr4:86667843-86667844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575859735	chr4:86667867-86667868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189293403	chr4:86667896-86667897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544562010	chr4:86667951-86667952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575816267	chr4:86667971-86667972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561653218	chr4:86667975-86667976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372198312	chr4:86667979-86667980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566385195	chr4:86667997-86667998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536807094	chr4:86668020-86668021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575081057	chr4:86668042-86668043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs28490560	chr4:86668052-86668053	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs537131567	chr4:86668071-86668072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140290557	chr4:86668086-86668087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143495390	chr4:86668096-86668097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs55637242	chr4:86668133-86668134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs61635228	chr4:86668149-86668150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541038643	chr4:86668154-86668155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375742234	chr4:86668159-86668160	Weak transcription Enhancers	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:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86659800-86667200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr4:86659800-86671600	Enhancers	Primary B cells from peripheral blood	blood
3	chr4:86661600-86667200	Enhancers	A549	lung
4	chr4:86662200-86669200	Weak transcription	NH-A	brain
5	chr4:86663200-86667000	Weak transcription	Small Intestine	intestine
6	chr4:86663400-86669200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:86663400-86673200	Weak transcription	Left Ventricle	heart
8	chr4:86663400-86699800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr4:86663600-86667000	Weak transcription	Pancreas	Pancrea
10	chr4:86663800-86669200	Weak transcription	Fetal Heart	heart
11	chr4:86664000-86675600	Weak transcription	Brain Anterior Caudate	brain
12	chr4:86664400-86673000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:86664600-86667400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:86665000-86667000	Weak transcription	Brain Substantia Nigra	brain
15	chr4:86665000-86667800	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr4:86665000-86670200	Weak transcription	GM12878-XiMat	blood
17	chr4:86665000-86672800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:86665000-86674600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr4:86665200-86667000	Weak transcription	Brain Hippocampus Middle	brain
20	chr4:86665200-86667200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:86665200-86667200	Weak transcription	Stomach Mucosa	stomach
22	chr4:86665200-86669000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:86665400-86669400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:86665600-86667000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr4:86665600-86675600	Weak transcription	Adipose Nuclei	Adipose
26	chr4:86665800-86667000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:86665800-86673200	Weak transcription	Right Ventricle	heart
28	chr4:86666000-86667000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:86666000-86667000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:86666000-86667400	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr4:86666000-86682400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr4:86666200-86669200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:86666200-86669800	Weak transcription	NHDF-Ad	bronchial
34	chr4:86666200-86670000	Weak transcription	HSMMtube	muscle
35	chr4:86666400-86669000	Weak transcription	Osteobl	bone
36	chr4:86666400-86669400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:86666600-86667200	Enhancers	Right Atrium	heart
38	chr4:86666800-86667200	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr4:86666800-86667400	Enhancers	HSMM	muscle
40	chr4:86666800-86667600	Enhancers	Primary B cells from cord blood	blood
41	chr4:86667000-86667200	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr4:86667000-86667200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:86667000-86667200	Enhancers	Pancreas	Pancrea
44	chr4:86667000-86667400	Enhancers	Small Intestine	intestine
45	chr4:86667000-86667600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:86667000-86667800	Enhancers	Brain Hippocampus Middle	brain
47	chr4:86667000-86667800	Enhancers	Brain Substantia Nigra	brain
48	chr4:86667000-86669000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:86667200-86667400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr4:86667200-86667600	Weak transcription	Primary monocytes fromperipheralblood	blood

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