Variant report

Variant	esv3466081
Chromosome Location	chr4:120017127-120017648
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:119967207..119969277-chr4:120017510..120021674,3	MCF-7	breast:
2	chr4:120014220..120018464-chr4:120020403..120024000,3	MCF-7	breast:
3	chr4:120015958..120018191-chr4:120019171..120021900,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572578779	chr4:120017158-120017159	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183136526	chr4:120017159-120017160	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116437770	chr4:120017182-120017183	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs57788576	chr4:120017207-120017208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs16997545	chr4:120017213-120017214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115184946	chr4:120017224-120017225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532654601	chr4:120017233-120017234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574781183	chr4:120017252-120017253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185992210	chr4:120017254-120017255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191102306	chr4:120017256-120017257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374261149	chr4:120017257-120017258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533782997	chr4:120017260-120017261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547709190	chr4:120017261-120017262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567567678	chr4:120017262-120017263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536211582	chr4:120017270-120017271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs57456370	chr4:120017281-120017282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs60613300	chr4:120017330-120017331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370749488	chr4:120017341-120017342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537178346	chr4:120017345-120017346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536652870	chr4:120017379-120017380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111854421	chr4:120017398-120017399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574631636	chr4:120017403-120017404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374151033	chr4:120017553-120017554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111950737	chr4:120017554-120017555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112008842	chr4:120017555-120017556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs72671701	chr4:120017605-120017606	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs74712663	chr4:120017613-120017614	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572589652	chr4:120017628-120017629	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541311464	chr4:120017631-120017632	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	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
Adenoid cystic carcinoma	18698036	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
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120009000-120017600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:120009200-120019000	Weak transcription	Fetal Intestine Large	intestine
3	chr4:120014800-120019000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr4:120014800-120022800	Weak transcription	NHEK	skin
5	chr4:120014800-120045000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:120015000-120019000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:120015000-120019600	Weak transcription	Osteobl	bone
8	chr4:120015000-120020000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr4:120015000-120020200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:120015000-120020200	Weak transcription	HSMM	muscle
11	chr4:120015000-120020200	Weak transcription	NH-A	brain
12	chr4:120015000-120021800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:120015000-120027800	Weak transcription	Right Atrium	heart
14	chr4:120015600-120017800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr4:120015600-120020200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:120015800-120020200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:120016600-120017400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:120016800-120017600	Weak transcription	NHDF-Ad	bronchial
19	chr4:120017000-120017200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:120017000-120017600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:120017000-120018600	Weak transcription	A549	lung
22	chr4:120017000-120019600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:120017000-120027600	Weak transcription	Left Ventricle	heart
24	chr4:120017400-120017800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:120017600-120018000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:120017600-120018000	Active TSS	GM12878-XiMat	blood
27	chr4:120017600-120018000	Enhancers	NHDF-Ad	bronchial
28	chr4:120017600-120018200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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