Variant report

Variant	esv1826347
Chromosome Location	chr4:120604860-120609268
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 184 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:184 , 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	rs151000603	chr4:120604916-120604917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547820159	chr4:120604924-120604925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192472235	chr4:120604964-120604965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536393676	chr4:120604977-120604978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556600922	chr4:120604988-120604989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2253534	chr4:120605031-120605032	Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs571463082	chr4:120605055-120605056	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs371028962	chr4:120605064-120605065	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs538061009	chr4:120605066-120605067	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs148198817	chr4:120605075-120605076	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs112738628	chr4:120605108-120605109	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs35648512	chr4:120605109-120605110	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs3057670	chr4:120605116-120605117	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs78023014	chr4:120605117-120605118	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs141131281	chr4:120605120-120605121	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs146177666	chr4:120605126-120605127	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs557554459	chr4:120605131-120605132	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs568273253	chr4:120605191-120605192	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs573278352	chr4:120605260-120605261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542390593	chr4:120605289-120605290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112126255	chr4:120605290-120605291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12642764	chr4:120605300-120605301	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs574203280	chr4:120605326-120605327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551953143	chr4:120605330-120605331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565437498	chr4:120605360-120605361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536769362	chr4:120605437-120605438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145588738	chr4:120605438-120605439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113776064	chr4:120605442-120605443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13103531	chr4:120605444-120605445	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs113587607	chr4:120605448-120605449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76315181	chr4:120605484-120605485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17051382	chr4:120605557-120605558	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs2714962	chr4:120605573-120605574	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs530092225	chr4:120605574-120605575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549872850	chr4:120605602-120605603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79128208	chr4:120605628-120605629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184277016	chr4:120605641-120605642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139229271	chr4:120605648-120605649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571103111	chr4:120605707-120605708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369480369	chr4:120605737-120605738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373027569	chr4:120605746-120605747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553632806	chr4:120605753-120605754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375146094	chr4:120605759-120605760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573815881	chr4:120605777-120605778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576954733	chr4:120605796-120605797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62321187	chr4:120605817-120605818	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs555839116	chr4:120605851-120605852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142451346	chr4:120605880-120605881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188680867	chr4:120605894-120605895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565524366	chr4:120605896-120605897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Myelodysplastic syndrome	18508791	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120577600-120605000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:120599800-120605400	Enhancers	Rectal Smooth Muscle	rectum
3	chr4:120600400-120605000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:120601400-120606600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:120602600-120605400	Enhancers	Colon Smooth Muscle	Colon
6	chr4:120602800-120605200	Enhancers	Fetal Stomach	stomach
7	chr4:120602800-120606400	Enhancers	Fetal Lung	lung
8	chr4:120603200-120605000	Enhancers	A549	lung
9	chr4:120603200-120605200	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr4:120603400-120606000	Enhancers	Osteobl	bone
11	chr4:120603800-120605000	Weak transcription	Aorta	Aorta
12	chr4:120604200-120605200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:120604400-120605400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:120604400-120606200	Enhancers	Liver	Liver
15	chr4:120604400-120606400	Enhancers	NHLF	lung
16	chr4:120604800-120605000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr4:120604800-120605200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:120604800-120605200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:120604800-120605200	Enhancers	Stomach Smooth Muscle	stomach
20	chr4:120604800-120605400	Enhancers	NH-A	brain
21	chr4:120604800-120605400	Enhancers	NHDF-Ad	bronchial
22	chr4:120605000-120605200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:120605000-120605200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr4:120605000-120605200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr4:120605000-120605800	Enhancers	Aorta	Aorta
26	chr4:120605000-120606000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:120605000-120606600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:120605200-120605400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr4:120605200-120609200	Weak transcription	Fetal Stomach	stomach
30	chr4:120605400-120608000	Weak transcription	Colon Smooth Muscle	Colon
31	chr4:120605600-120606200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:120605600-120606400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:120605600-120606400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr4:120605600-120606400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr4:120605600-120606600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr4:120606000-120606400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr4:120609200-120610400	Enhancers	Fetal Stomach	stomach

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