Variant report

Variant	esv3383743
Chromosome Location	chr4:124418752-124420950
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:124414010..124416670-chr4:124419524..124421403,2	K562	blood:
2	chr4:124412700..124415676-chr4:124416993..124419533,2	MCF-7	breast:
3	chr4:124413458..124415561-chr4:124417115..124419225,3	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529072706	chr4:124418755-124418756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568827100	chr4:124418758-124418759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574137502	chr4:124418766-124418767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7696421	chr4:124418788-124418789	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs541599271	chr4:124418852-124418853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185397269	chr4:124418898-124418899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142404402	chr4:124418936-124418937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115624616	chr4:124418947-124418948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374795889	chr4:124418954-124418955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371469062	chr4:124418975-124418976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs151263222	chr4:124418998-124418999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532366730	chr4:124419114-124419115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552328465	chr4:124419124-124419125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577622724	chr4:124419206-124419207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140631451	chr4:124419213-124419214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144192037	chr4:124419238-124419239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74976190	chr4:124419270-124419271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111958778	chr4:124419288-124419289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376448171	chr4:124419318-124419319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553797189	chr4:124419319-124419320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72684695	chr4:124419320-124419321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189531837	chr4:124419322-124419323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200390852	chr4:124419336-124419337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201712171	chr4:124419341-124419342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199789382	chr4:124419343-124419344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs70957558	chr4:124419344-124419345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76855416	chr4:124419345-124419346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369154865	chr4:124419356-124419357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534998240	chr4:124419365-124419366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563150371	chr4:124419401-124419402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7655843	chr4:124419450-124419451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs539411900	chr4:124419492-124419493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199952833	chr4:124419493-124419494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201089157	chr4:124419538-124419539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566344662	chr4:124419540-124419541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34703974	chr4:124419558-124419559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149297940	chr4:124419563-124419564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201123995	chr4:124419580-124419581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141236574	chr4:124419582-124419583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145533328	chr4:124419596-124419597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138089740	chr4:124419604-124419605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557485220	chr4:124419637-124419638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574643735	chr4:124419653-124419654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199692276	chr4:124419662-124419663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542283264	chr4:124419687-124419688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183992816	chr4:124419708-124419709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188035169	chr4:124419721-124419722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs180890943	chr4:124419725-124419726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28743084	chr4:124419727-124419728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199635258	chr4:124419745-124419746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
small cell lung cancer	20016488	CNVD
Olfactory neuroblastoma	18408657	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124416000-124419000	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr4:124416400-124419000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr4:124416400-124419400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:124416400-124419400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:124416800-124418800	Enhancers	HepG2	liver
6	chr4:124417000-124425200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:124417200-124420800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr4:124417200-124425200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr4:124417200-124426800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:124417400-124425200	Weak transcription	Psoas Muscle	Psoas
11	chr4:124418200-124421800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:124418800-124425000	Weak transcription	HepG2	liver
13	chr4:124419400-124420800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:124420800-124421600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:124420800-124422400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell

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