Variant report

Variant	nsv818246
Chromosome Location	chr4:79184338-79221851
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	chr4:79153666..79155870-chr4:79187424..79190153,2	K562	blood:

Extended variants
information (count: 1610 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1610 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6533565	chr4:79184338-79184339	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs549755864	chr4:79184345-79184346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563241067	chr4:79184360-79184361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373742943	chr4:79184363-79184364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552290256	chr4:79184371-79184372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538315559	chr4:79184434-79184435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192802271	chr4:79184469-79184470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548795892	chr4:79184504-79184505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556317675	chr4:79184518-79184519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146095772	chr4:79184538-79184539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4859921	chr4:79184556-79184557	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs1378237	chr4:79184594-79184595	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs140017022	chr4:79184599-79184600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537059000	chr4:79184621-79184622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1378238	chr4:79184638-79184639	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs143621224	chr4:79184645-79184646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536785273	chr4:79184673-79184674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553168514	chr4:79184699-79184700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572291055	chr4:79184702-79184703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541192139	chr4:79184708-79184709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373330692	chr4:79184725-79184726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558092560	chr4:79184739-79184740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1378239	chr4:79184807-79184808	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs534269647	chr4:79184824-79184825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146516058	chr4:79184828-79184829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140905235	chr4:79184837-79184838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184113657	chr4:79184877-79184878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149748530	chr4:79184878-79184879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542738113	chr4:79184931-79184932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs386676400	chr4:79184949-79184950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10007562	chr4:79184950-79184951	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs148882957	chr4:79184973-79184974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1378240	chr4:79185019-79185020	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs2867013	chr4:79185069-79185070	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs55895609	chr4:79185077-79185078	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs567677412	chr4:79185151-79185152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74893276	chr4:79185158-79185159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553445872	chr4:79185160-79185161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565454936	chr4:79185196-79185197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1840390	chr4:79185215-79185216	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs188551879	chr4:79185222-79185223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370376437	chr4:79185226-79185227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558031450	chr4:79185231-79185232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78280834	chr4:79185237-79185238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543735668	chr4:79185264-79185265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559843675	chr4:79185294-79185295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573606406	chr4:79185337-79185338	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542225374	chr4:79185380-79185381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1840391	chr4:79185388-79185389	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs1840392	chr4:79185399-79185400	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:79)

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
lymphocytic leukemia	21291569	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
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Pancreatic cancer	17952125	CNVD
renal disease	20603712	CNVD
Tracheal agenesis	20877625	CNVD
Breast cancer	22522925	CNVD
Neuroblastoma	21899760	CNVD

Chromatin state (count:595 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79169200-79186200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:79169200-79187400	Weak transcription	HSMMtube	muscle
3	chr4:79169600-79187800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:79169800-79197400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:79169800-79213800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:79170400-79186000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:79173800-79186200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:79173800-79187000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:79173800-79187400	Weak transcription	Fetal Stomach	stomach
10	chr4:79174600-79186000	Weak transcription	Fetal Lung	lung
11	chr4:79174600-79197400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:79174800-79214400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:79175000-79187600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr4:79175000-79188000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:79175200-79185800	Weak transcription	Fetal Kidney	kidney
16	chr4:79176400-79191000	Weak transcription	Psoas Muscle	Psoas
17	chr4:79176600-79186200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr4:79176600-79186200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:79176600-79186200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:79176600-79186200	Weak transcription	Fetal Intestine Large	intestine
21	chr4:79176600-79186600	Weak transcription	Fetal Intestine Small	intestine
22	chr4:79176600-79187200	Weak transcription	Left Ventricle	heart
23	chr4:79176600-79189200	Weak transcription	Fetal Heart	heart
24	chr4:79177600-79187400	Weak transcription	Pancreas	Pancrea
25	chr4:79177800-79186200	Weak transcription	HepG2	liver
26	chr4:79178600-79186000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr4:79179800-79184600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr4:79179800-79185600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr4:79179800-79185800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr4:79182400-79189600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:79183000-79184400	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr4:79183400-79187200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:79183600-79184600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr4:79183600-79186000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:79184000-79186200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:79184400-79185200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr4:79184600-79185400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr4:79184600-79186800	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr4:79185200-79186200	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr4:79185400-79185800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr4:79185600-79192400	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr4:79185800-79186000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr4:79185800-79187200	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr4:79185800-79187800	Strong transcription	Fetal Kidney	kidney
45	chr4:79185800-79190200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr4:79186000-79186200	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr4:79186000-79186600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr4:79186000-79186600	Enhancers	Fetal Lung	lung
49	chr4:79186000-79186800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr4:79186000-79187600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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