Variant report

Variant	nsv511259
Chromosome Location	chr4:86966327-86983232
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	chr4:86974348..86976679-chr4:86978244..86980026,2	MCF-7	breast:
2	chr4:86974348..86976679-chr4:86978244..86980026,2	MCF-7	breast:

Extended variants
information (count: 526 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:526 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6815306	chr4:86966327-86966328	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192657263	chr4:86966372-86966373	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144180990	chr4:86966400-86966401	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35867054	chr4:86966435-86966436	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77921228	chr4:86966441-86966442	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184166623	chr4:86966477-86966478	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531754963	chr4:86966511-86966512	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368009872	chr4:86966524-86966525	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533407280	chr4:86966552-86966553	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1946733	chr4:86966639-86966640	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs568870363	chr4:86966643-86966644	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539483613	chr4:86966649-86966650	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374254617	chr4:86966662-86966663	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557775413	chr4:86966681-86966682	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189142903	chr4:86966772-86966773	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12642887	chr4:86966815-86966816	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs113311215	chr4:86966816-86966817	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538253976	chr4:86966825-86966826	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574143152	chr4:86966840-86966841	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201213944	chr4:86966849-86966850	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373563611	chr4:86966882-86966883	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193005638	chr4:86966933-86966934	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539702806	chr4:86966970-86966971	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34581941	chr4:86966991-86966992	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113705815	chr4:86967001-86967002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372167506	chr4:86967096-86967097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545036536	chr4:86967171-86967172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs117675155	chr4:86967177-86967178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377502366	chr4:86967179-86967180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528399632	chr4:86967265-86967266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184367825	chr4:86967354-86967355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561746163	chr4:86967376-86967377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574786488	chr4:86967389-86967390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200329741	chr4:86967409-86967410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531396194	chr4:86967436-86967437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550789098	chr4:86967441-86967442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569012252	chr4:86967447-86967448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533042023	chr4:86967528-86967529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533971181	chr4:86967531-86967532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188927744	chr4:86967577-86967578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114437347	chr4:86967620-86967621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367603548	chr4:86967636-86967637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181293494	chr4:86967654-86967655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576851896	chr4:86967731-86967732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377337890	chr4:86967745-86967746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555984925	chr4:86967761-86967762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143827997	chr4:86967763-86967764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76073803	chr4:86967786-86967787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183921889	chr4:86967792-86967793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10028075	chr4:86967830-86967831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	20459617	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86916800-86985400	Weak transcription	Ovary	ovary
2	chr4:86936000-86975600	Weak transcription	Brain Germinal Matrix	brain
3	chr4:86936400-86990600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:86948200-86966600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:86949200-86988600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:86950600-86967000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:86955000-86966400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:86955000-86985000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr4:86955200-86966600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr4:86955200-86971000	Weak transcription	Brain Hippocampus Middle	brain
11	chr4:86955200-87003800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:86956200-86969600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr4:86958200-86975600	Weak transcription	Fetal Brain Female	brain
14	chr4:86958400-86992600	Weak transcription	Fetal Kidney	kidney
15	chr4:86961200-86979400	Weak transcription	Fetal Stomach	stomach
16	chr4:86961200-86981000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr4:86963600-86966400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:86963600-86974400	Weak transcription	Fetal Lung	lung
19	chr4:86963600-86988800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:86964600-86966800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:86965200-86966600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr4:86965200-86968000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:86965200-86968800	Weak transcription	NHDF-Ad	bronchial
24	chr4:86965200-86976200	Weak transcription	Brain Anterior Caudate	brain
25	chr4:86965200-86985800	Weak transcription	Adipose Nuclei	Adipose
26	chr4:86965200-86987000	Weak transcription	Brain Substantia Nigra	brain
27	chr4:86965400-86966600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:86966400-86967200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr4:86966400-86967200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:86966600-86966800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:86966600-86966800	Enhancers	Brain Cingulate Gyrus	brain
32	chr4:86966600-86967000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr4:86966600-86967000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr4:86966600-86967000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr4:86966600-86967200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr4:86966600-86967200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr4:86966800-86967000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr4:86966800-86969000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:86967000-86968400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:86967200-86971200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr4:86968000-86969600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:86968400-86970000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:86968800-86970400	Enhancers	NHDF-Ad	bronchial
44	chr4:86969000-86969800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:86969000-86972000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:86969200-86969600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr4:86969200-86969800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:86969200-86972600	Enhancers	HMEC	breast
49	chr4:86969400-86969800	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr4:86969400-86969800	Enhancers	NHEK	skin

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