Variant report

Variant	nsv879972
Chromosome Location	chr4:132360407-132399049
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	chr4:132387674..132388400-chr4:132565905..132566424,2	MCF-7	breast:

Extended variants
information (count: 256 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139572661	chr4:132361831-132361832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187958656	chr4:132361885-132361886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77810549	chr4:132361924-132361925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144411337	chr4:132361949-132361950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs151081088	chr4:132361970-132361971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141110470	chr4:132362030-132362031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559651986	chr4:132362035-132362036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528800319	chr4:132362042-132362043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574858658	chr4:132362132-132362133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371314249	chr4:132362133-132362134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532982792	chr4:132362138-132362139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150278973	chr4:132362157-132362158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76605268	chr4:132362201-132362202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145859338	chr4:132362205-132362206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555540302	chr4:132362206-132362207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376560981	chr4:132362235-132362236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565510291	chr4:132362271-132362272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192986320	chr4:132362322-132362323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs72941422	chr4:132362364-132362365	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs563362650	chr4:132362418-132362419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141172445	chr4:132362431-132362432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557069916	chr4:132362445-132362446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146929472	chr4:132362494-132362495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182138912	chr4:132362497-132362498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79316848	chr4:132362498-132362499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528726765	chr4:132362499-132362500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545605286	chr4:132362514-132362515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186735618	chr4:132362516-132362517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192367331	chr4:132362522-132362523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138013102	chr4:132362574-132362575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143526171	chr4:132369099-132369100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574182551	chr4:132369220-132369221	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs536700956	chr4:132369231-132369232	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs368145382	chr4:132369233-132369234	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs75918253	chr4:132369243-132369244	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs573507008	chr4:132369244-132369245	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs116992324	chr4:132369245-132369246	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs539945824	chr4:132369258-132369259	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs559029017	chr4:132369277-132369278	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs138137066	chr4:132369355-132369356	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs543053596	chr4:132369372-132369373	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs142631559	chr4:132369418-132369419	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs6534842	chr4:132369427-132369428	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs542285492	chr4:132369428-132369429	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs559002195	chr4:132369503-132369504	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs55968217	chr4:132369562-132369563	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs544412943	chr4:132371224-132371225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531517713	chr4:132371249-132371250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551234287	chr4:132371266-132371267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561215996	chr4:132371270-132371271	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
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
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
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
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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132361800-132362600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:132369000-132369400	Enhancers	Fetal Brain Male	brain
3	chr4:132369200-132369600	Active TSS	Fetal Heart	heart
4	chr4:132371200-132371600	Enhancers	Dnd41	blood
5	chr4:132371600-132372200	Flanking Active TSS	Dnd41	blood
6	chr4:132371600-132372400	Active TSS	GM12878-XiMat	blood
7	chr4:132372200-132372600	Enhancers	Dnd41	blood
8	chr4:132378600-132379000	Enhancers	Dnd41	blood
9	chr4:132378800-132379000	Weak transcription	GM12878-XiMat	blood
10	chr4:132379000-132379200	Enhancers	GM12878-XiMat	blood
11	chr4:132379000-132379400	Flanking Active TSS	Dnd41	blood
12	chr4:132379000-132381800	Enhancers	Primary T cells from cord blood	blood
13	chr4:132379200-132380600	Weak transcription	GM12878-XiMat	blood
14	chr4:132379400-132380400	Enhancers	Dnd41	blood
15	chr4:132379800-132381600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:132380400-132381600	Flanking Active TSS	Dnd41	blood
17	chr4:132380600-132381200	Enhancers	Fetal Thymus	thymus
18	chr4:132380600-132381400	Flanking Active TSS	GM12878-XiMat	blood
19	chr4:132381600-132382000	Enhancers	Dnd41	blood
20	chr4:132381600-132382200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:132382200-132382400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:132391600-132392200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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