Variant report

Variant	nsv822711
Chromosome Location	chr4:120600253-120606566
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	chr4:120596527..120599476-chr4:120602386..120604246,2	K562	blood:

Extended variants
information (count: 235 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:235 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530840575	chr4:120600301-120600302	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs550634693	chr4:120600314-120600315	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs186559929	chr4:120600384-120600385	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs577735742	chr4:120600390-120600391	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs570629742	chr4:120600394-120600395	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs2389896	chr4:120600424-120600425	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs572061425	chr4:120600434-120600435	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs190863537	chr4:120600503-120600504	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs142787464	chr4:120600598-120600599	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs554686201	chr4:120600616-120600617	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs2389897	chr4:120600617-120600618	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs182316489	chr4:120600622-120600623	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs563682210	chr4:120600657-120600658	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs532847367	chr4:120600664-120600665	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs187515567	chr4:120600665-120600666	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs192949859	chr4:120600668-120600669	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs78647149	chr4:120600761-120600762	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs538408509	chr4:120600767-120600768	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs568229514	chr4:120600793-120600794	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs530883498	chr4:120600876-120600877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576629315	chr4:120600899-120600900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549952911	chr4:120600931-120600932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147401108	chr4:120600996-120600997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183155111	chr4:120601009-120601010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558575396	chr4:120601038-120601039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565710129	chr4:120601050-120601051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12711079	chr4:120601067-120601068	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs12711080	chr4:120601094-120601095	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs13121100	chr4:120601097-120601098	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs188179907	chr4:120601175-120601176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373961599	chr4:120601259-120601260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373168234	chr4:120601262-120601263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546504303	chr4:120601271-120601272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533165827	chr4:120601285-120601286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559602727	chr4:120601297-120601298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192287010	chr4:120601458-120601459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113591326	chr4:120601459-120601460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561702254	chr4:120601499-120601500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189364182	chr4:120601509-120601510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560655637	chr4:120601529-120601530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550787633	chr4:120601566-120601567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs72924331	chr4:120601615-120601616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532188654	chr4:120601658-120601659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552542505	chr4:120601683-120601684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569949628	chr4:120601717-120601718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs13122890	chr4:120601731-120601732	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs13122357	chr4:120601758-120601759	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs548215543	chr4:120601877-120601878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192380648	chr4:120601899-120601900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs17051377	chr4:120601924-120601925	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Myelodysplastic syndrome	18508791	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120577600-120605000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:120599800-120600400	Weak transcription	Aorta	Aorta
3	chr4:120599800-120600400	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr4:120599800-120600400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr4:120599800-120600400	Flanking Active TSS	NHLF	lung
6	chr4:120599800-120600600	Enhancers	NH-A	brain
7	chr4:120599800-120600800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:120599800-120600800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:120599800-120600800	Enhancers	Colon Smooth Muscle	Colon
10	chr4:120599800-120600800	Enhancers	Fetal Kidney	kidney
11	chr4:120599800-120605400	Enhancers	Rectal Smooth Muscle	rectum
12	chr4:120600000-120600400	Weak transcription	Fetal Stomach	stomach
13	chr4:120600200-120600400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:120600200-120600600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:120600200-120600600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:120600200-120600600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:120600200-120600600	Enhancers	NHDF-Ad	bronchial
18	chr4:120600200-120600800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:120600200-120600800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr4:120600200-120600800	Enhancers	Osteobl	bone
21	chr4:120600200-120601400	Enhancers	Fetal Lung	lung
22	chr4:120600400-120600600	Enhancers	Aorta	Aorta
23	chr4:120600400-120600600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr4:120600400-120600600	Enhancers	Fetal Stomach	stomach
25	chr4:120600400-120600800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr4:120600400-120600800	Enhancers	NHLF	lung
27	chr4:120600400-120605000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:120600600-120601400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:120600600-120601800	Weak transcription	Aorta	Aorta
30	chr4:120600600-120602800	Weak transcription	Fetal Stomach	stomach
31	chr4:120600600-120603200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr4:120600600-120604800	Weak transcription	NH-A	brain
33	chr4:120600600-120604800	Weak transcription	NHDF-Ad	bronchial
34	chr4:120600800-120601400	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr4:120600800-120601600	Weak transcription	Colon Smooth Muscle	Colon
36	chr4:120600800-120602800	Weak transcription	NHLF	lung
37	chr4:120600800-120603400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr4:120600800-120603400	Weak transcription	Osteobl	bone
39	chr4:120600800-120604200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:120600800-120604400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:120600800-120604800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:120601400-120602800	Weak transcription	Fetal Lung	lung
43	chr4:120601400-120606600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:120601600-120601800	Enhancers	Colon Smooth Muscle	Colon
45	chr4:120601800-120602600	Weak transcription	Colon Smooth Muscle	Colon
46	chr4:120601800-120603200	Enhancers	Aorta	Aorta
47	chr4:120602600-120605400	Enhancers	Colon Smooth Muscle	Colon
48	chr4:120602800-120603400	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr4:120602800-120604000	Enhancers	NHLF	lung
50	chr4:120602800-120605200	Enhancers	Fetal Stomach	stomach

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