Variant report

Variant	nsv879890
Chromosome Location	chr4:125828458-125850022
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:125825931..125828528-chr4:125854551..125857392,2	MCF-7	breast:
2	chr4:125831092..125833359-chr4:125835082..125836657,2	MCF-7	breast:
3	chr4:125833912..125836071-chr4:125836567..125839546,2	MCF-7	breast:
4	chr4:125831092..125833359-chr4:125835082..125836657,2	MCF-7	breast:
5	chr4:125833912..125836071-chr4:125836567..125839546,2	MCF-7	breast:

Extended variants
information (count: 880 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:880 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1506548	chr4:125828458-125828459	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs201880644	chr4:125828463-125828464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537917423	chr4:125828479-125828480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549593562	chr4:125828525-125828526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567896869	chr4:125828569-125828570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535399208	chr4:125828610-125828611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553655099	chr4:125828633-125828634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79847574	chr4:125828640-125828641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs193061086	chr4:125828665-125828666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147382445	chr4:125828692-125828693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs57297124	chr4:125828693-125828694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs70960342	chr4:125828711-125828712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555472701	chr4:125828731-125828732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576490825	chr4:125828735-125828736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543920174	chr4:125828767-125828768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs57031928	chr4:125828769-125828770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs574284580	chr4:125828771-125828772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541589754	chr4:125828772-125828773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2390741	chr4:125828796-125828797	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs150571827	chr4:125828841-125828842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377024194	chr4:125828848-125828849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533638996	chr4:125828880-125828881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545501954	chr4:125828887-125828888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375838326	chr4:125828908-125828909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143909120	chr4:125828968-125828969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372156072	chr4:125828997-125828998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531339695	chr4:125828998-125828999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549454968	chr4:125829083-125829084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs60880409	chr4:125829119-125829120	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs28880575	chr4:125829130-125829131	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs75935070	chr4:125829134-125829135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553470150	chr4:125829163-125829164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116353642	chr4:125829175-125829176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs57751888	chr4:125829176-125829177	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs144252460	chr4:125829181-125829182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570025762	chr4:125829195-125829196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148711852	chr4:125829267-125829268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184954253	chr4:125829289-125829290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574139969	chr4:125829296-125829297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532767772	chr4:125829315-125829316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs28869341	chr4:125829396-125829397	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs189803720	chr4:125829415-125829416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142716099	chr4:125829421-125829422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373887182	chr4:125829443-125829444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs199776893	chr4:125829458-125829459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113895371	chr4:125829473-125829474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545667175	chr4:125829501-125829502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs72918681	chr4:125829514-125829515	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs531334439	chr4:125829603-125829604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143424952	chr4:125829670-125829671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Myelodysplastic syndrome	21251322	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
Colorectal cancer	20459617	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
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125824200-125833400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:125825400-125829600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:125825800-125829000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:125825800-125829000	Weak transcription	Osteobl	bone
5	chr4:125825800-125829400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:125826200-125829000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:125826400-125834800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:125827600-125831600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:125829000-125829800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr4:125829000-125830000	Enhancers	Osteobl	bone
11	chr4:125829400-125830000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:125831600-125832200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:125832200-125834200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:125833800-125834200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr4:125834200-125834600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:125834200-125834600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
17	chr4:125834400-125835400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:125834600-125835200	Enhancers	NHEK	skin
19	chr4:125834600-125835400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:125834600-125835400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:125834600-125835400	Enhancers	HMEC	breast
22	chr4:125834800-125835000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:125834800-125835400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:125835400-125844400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:125835400-125844400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:125838600-125839000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:125838800-125839600	Enhancers	Osteobl	bone
28	chr4:125839000-125839200	Enhancers	Ovary	ovary
29	chr4:125839000-125839400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:125839400-125839800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:125839400-125839800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:125841000-125841200	Enhancers	Ovary	ovary
33	chr4:125843800-125844000	Enhancers	Lung	lung
34	chr4:125844400-125844800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:125844400-125845000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:125844400-125845000	Enhancers	NHEK	skin
37	chr4:125844400-125845600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:125844600-125845000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:125844600-125845000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr4:125844600-125845000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:125844600-125845000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:125844600-125845000	Enhancers	Fetal Heart	heart
43	chr4:125844600-125845000	Enhancers	HMEC	breast
44	chr4:125844800-125860600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:125845000-125846800	Weak transcription	Fetal Heart	heart
46	chr4:125845600-125857600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:125846800-125847000	Enhancers	Fetal Heart	heart
48	chr4:125846800-125847000	Enhancers	HMEC	breast
49	chr4:125847000-125847400	Weak transcription	Fetal Heart	heart
50	chr4:125847400-125847600	Enhancers	Fetal Heart	heart

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