Variant report

Variant	esv2763388
Chromosome Location	chr4:124915405-124919843
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	chr4:124911069..124913038-chr4:124917106..124920005,2	MCF-7	breast:

Extended variants
information (count: 160 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528596660	chr4:124915448-124915449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373906803	chr4:124915468-124915469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140412671	chr4:124915575-124915576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562915405	chr4:124915582-124915583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114406128	chr4:124915644-124915645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530881856	chr4:124915688-124915689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550623145	chr4:124915734-124915735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570692018	chr4:124915735-124915736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75608537	chr4:124915786-124915787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553110345	chr4:124915849-124915850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541170556	chr4:124915922-124915923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182899109	chr4:124916024-124916025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187530640	chr4:124916081-124916082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551446787	chr4:124916093-124916094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562911750	chr4:124916108-124916109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368111968	chr4:124916130-124916131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74634393	chr4:124916170-124916171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545385212	chr4:124916193-124916194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574894807	chr4:124916248-124916249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116312516	chr4:124916271-124916272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557382869	chr4:124916278-124916279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374898918	chr4:124916297-124916298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577447695	chr4:124916320-124916321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546130152	chr4:124916334-124916335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150344905	chr4:124916382-124916383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138060267	chr4:124916417-124916418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527766741	chr4:124916479-124916480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542348100	chr4:124916522-124916523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562136403	chr4:124916524-124916525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143511594	chr4:124916542-124916543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550937953	chr4:124916637-124916638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373871437	chr4:124916643-124916644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570682757	chr4:124916693-124916694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138724796	chr4:124916796-124916797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546517900	chr4:124916860-124916861	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs566337795	chr4:124916938-124916939	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs531699510	chr4:124917023-124917024	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs534235484	chr4:124917028-124917029	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs377349080	chr4:124917031-124917032	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs58513573	chr4:124917033-124917034	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs535224038	chr4:124917045-124917046	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs555063377	chr4:124917053-124917054	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs568575812	chr4:124917056-124917057	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs537475397	chr4:124917064-124917065	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs371664359	chr4:124917086-124917087	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs527676893	chr4:124917172-124917173	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs72672872	chr4:124917187-124917188	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs142681401	chr4:124917224-124917225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540136714	chr4:124917227-124917228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111889927	chr4:124917234-124917235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
T-cell prolymphocytic leukemia	19278963	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124909000-124916400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:124909200-124916600	Weak transcription	HSMM	muscle
3	chr4:124910400-124916000	Weak transcription	HUVEC	blood vessel
4	chr4:124912400-124916600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:124914000-124926800	Weak transcription	Aorta	Aorta
6	chr4:124916000-124918400	Enhancers	HUVEC	blood vessel
7	chr4:124916400-124917000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:124916400-124918400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:124916600-124916800	Enhancers	HSMMtube	muscle
10	chr4:124916600-124917600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:124916600-124917600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:124916600-124917600	Enhancers	HSMM	muscle
13	chr4:124916600-124918600	Enhancers	NHDF-Ad	bronchial
14	chr4:124916600-124919000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr4:124916600-124919400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:124916800-124917200	Flanking Active TSS	HSMMtube	muscle
17	chr4:124916800-124917400	Enhancers	HMEC	breast
18	chr4:124916800-124917600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:124916800-124917600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:124916800-124917800	Enhancers	NH-A	brain
21	chr4:124916800-124918400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:124916800-124918600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:124916800-124918600	Enhancers	NHLF	lung
24	chr4:124916800-124918600	Enhancers	Osteobl	bone
25	chr4:124917000-124918400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:124917200-124917600	Enhancers	HSMMtube	muscle
27	chr4:124917200-124917600	Enhancers	NHEK	skin
28	chr4:124917200-124918400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr4:124917600-124918400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:124917600-124919200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr4:124917600-124919400	Weak transcription	HSMM	muscle
32	chr4:124917600-124922200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:124917600-124927000	Weak transcription	HSMMtube	muscle
34	chr4:124917800-124918400	Weak transcription	NH-A	brain
35	chr4:124918000-124918600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr4:124918200-124918600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr4:124918200-124918600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr4:124918400-124918600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:124918400-124918600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr4:124918400-124918600	Enhancers	NH-A	brain
41	chr4:124918400-124918800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:124918400-124918800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr4:124918600-124919000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:124919000-124919200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
45	chr4:124919000-124921200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr4:124919200-124920400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr4:124919400-124920000	Enhancers	HSMM	muscle
48	chr4:124919600-124920200	Enhancers	Fetal Stomach	stomach

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