Variant report

Variant	esv3467354
Chromosome Location	chr4:120579843-120581018
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112101894	chr4:120579843-120579844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535427767	chr4:120579844-120579845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs58675966	chr4:120579850-120579851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34097972	chr4:120579854-120579855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs397880278	chr4:120579855-120579856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371607040	chr4:120579856-120579857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7676589	chr4:120579973-120579974	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs114142451	chr4:120579979-120579980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543937461	chr4:120580035-120580036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557933680	chr4:120580041-120580042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577774618	chr4:120580077-120580078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540566901	chr4:120580095-120580096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560410809	chr4:120580103-120580104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183395260	chr4:120580163-120580164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542993840	chr4:120580166-120580167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562709381	chr4:120580239-120580240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540570833	chr4:120580266-120580267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551849529	chr4:120580299-120580300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570666574	chr4:120580338-120580339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548329591	chr4:120580359-120580360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560105079	chr4:120580361-120580362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs71597017	chr4:120580398-120580399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs386401299	chr4:120580405-120580406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376858620	chr4:120580408-120580409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs75185476	chr4:120580409-120580410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs13149310	chr4:120580412-120580413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546960678	chr4:120580418-120580419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566735819	chr4:120580458-120580459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535137802	chr4:120580522-120580523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12642411	chr4:120580525-120580526	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs568713365	chr4:120580544-120580545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192294760	chr4:120580548-120580549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557422869	chr4:120580583-120580584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115535867	chr4:120580585-120580586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373644519	chr4:120580593-120580594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540407073	chr4:120580636-120580637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368202699	chr4:120580790-120580791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200394089	chr4:120580792-120580793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368910266	chr4:120580793-120580794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554080044	chr4:120580806-120580807	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs574294264	chr4:120580825-120580826	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs386678974	chr4:120580858-120580859	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs68182953	chr4:120580860-120580861	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs547411812	chr4:120580900-120580901	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs115677478	chr4:120580954-120580955	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs147788411	chr4:120580972-120580973	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs562863455	chr4:120580998-120580999	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Renal cell carcinoma	18194544	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120568600-120582200	Weak transcription	Fetal Brain Male	brain
2	chr4:120575600-120581400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:120577200-120580800	Weak transcription	Small Intestine	intestine
4	chr4:120577200-120581400	Enhancers	Osteobl	bone
5	chr4:120577600-120605000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:120577800-120583800	Weak transcription	Fetal Stomach	stomach
7	chr4:120578400-120584000	Weak transcription	Aorta	Aorta
8	chr4:120578600-120580400	Weak transcription	Fetal Lung	lung
9	chr4:120578600-120580600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:120578600-120582000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr4:120578800-120584600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:120578800-120588000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:120578800-120592800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:120579000-120580000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:120579000-120580400	Weak transcription	NHLF	lung
16	chr4:120579000-120580600	Weak transcription	NH-A	brain
17	chr4:120579000-120581000	Weak transcription	NHDF-Ad	bronchial
18	chr4:120579000-120583600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:120579400-120580000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:120580000-120580200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:120580000-120581400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:120580200-120581200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:120580400-120580800	Enhancers	Fetal Lung	lung
24	chr4:120580400-120581400	Enhancers	NHLF	lung
25	chr4:120580600-120580800	Enhancers	NH-A	brain
26	chr4:120580600-120581000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:120580600-120581400	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr4:120580800-120581000	Flanking Active TSS	Fetal Lung	lung
29	chr4:120580800-120581000	Enhancers	Small Intestine	intestine
30	chr4:120581000-120581200	Enhancers	Fetal Lung	lung
31	chr4:120581000-120581400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr4:120581000-120581400	Enhancers	NHDF-Ad	bronchial
33	chr4:120581000-120582400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:120581000-120583800	Weak transcription	Small Intestine	intestine

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