Variant report

Variant	nsv537424
Chromosome Location	chr4:186887057-186936464
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:186911301..186912971-chr4:186916620..186919384,2	K562	blood:
2	chr4:186561682..186562601-chr4:186936140..186936998,3	MCF-7	breast:
3	chr4:186895004..186896872-chr4:186900773..186902842,2	K562	blood:
4	chr4:186911301..186912971-chr4:186916620..186919384,2	K562	blood:
5	chr4:186895004..186896872-chr4:186900773..186902842,2	K562	blood:
6	chr4:186884071..186886436-chr4:186886448..186888967,3	K562	blood:
7	chr4:186933593..186936469-chr4:186945344..186948028,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000222727	chromatin interactions

Extended variants
information (count: 1709 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1709 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149143467	chr4:186887069-186887070	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs181048081	chr4:186887096-186887097	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs552615750	chr4:186887152-186887153	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs548616842	chr4:186887161-186887162	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs562293142	chr4:186887179-186887180	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs527910971	chr4:186887184-186887185	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs552819973	chr4:186887186-186887187	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs547485070	chr4:186887195-186887196	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs13152068	chr4:186887218-186887219	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs113635819	chr4:186887255-186887256	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs546680577	chr4:186887259-186887260	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs539557608	chr4:186887286-186887287	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs565415124	chr4:186887339-186887340	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs185621290	chr4:186887352-186887353	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs538429027	chr4:186887367-186887368	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs570837516	chr4:186887419-186887420	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs575924335	chr4:186887443-186887444	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs538124517	chr4:186887444-186887445	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs191559943	chr4:186887472-186887473	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs59133381	chr4:186887484-186887485	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs534018611	chr4:186887530-186887531	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs111750010	chr4:186887539-186887540	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs182126653	chr4:186887546-186887547	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs375410923	chr4:186887549-186887550	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs151275817	chr4:186887570-186887571	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs186832547	chr4:186887577-186887578	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs575988060	chr4:186887578-186887579	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs542490284	chr4:186887580-186887581	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs562294814	chr4:186887584-186887585	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs527872117	chr4:186887585-186887586	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs538274556	chr4:186887586-186887587	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs187644821	chr4:186887591-186887592	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs556278541	chr4:186887594-186887595	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs575244231	chr4:186887597-186887598	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs564360499	chr4:186887598-186887599	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs6820903	chr4:186887602-186887603	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs550038322	chr4:186887609-186887610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570009062	chr4:186887610-186887611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529317215	chr4:186887617-186887618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192184999	chr4:186887620-186887621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568320619	chr4:186887624-186887625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183391598	chr4:186887626-186887627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574349632	chr4:186887639-186887640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543373248	chr4:186887641-186887642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570676277	chr4:186887645-186887646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560074390	chr4:186887655-186887656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186634460	chr4:186887662-186887663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs386683444	chr4:186887674-186887675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6820959	chr4:186887676-186887677	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs554954445	chr4:186887682-186887683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
Acute lymphoblastic leukemia	20067559	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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17086460	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:228 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186883000-186888000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:186886200-186888200	Enhancers	Ovary	ovary
3	chr4:186886400-186887200	Enhancers	Fetal Intestine Small	intestine
4	chr4:186886400-186887400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr4:186886400-186887400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr4:186886400-186887400	Enhancers	HepG2	liver
7	chr4:186886400-186888600	Enhancers	HUVEC	blood vessel
8	chr4:186886600-186887200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:186886600-186888000	Enhancers	Right Ventricle	heart
10	chr4:186886600-186888200	Enhancers	Placenta	Placenta
11	chr4:186886600-186888200	Enhancers	Left Ventricle	heart
12	chr4:186886600-186889200	Enhancers	Hela-S3	cervix
13	chr4:186886800-186887200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:186886800-186887200	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr4:186886800-186887400	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr4:186886800-186887400	Enhancers	Primary B cells from peripheral blood	blood
17	chr4:186886800-186887400	Active TSS	Monocytes-CD14+_RO01746	blood
18	chr4:186886800-186889000	Enhancers	NHDF-Ad	bronchial
19	chr4:186886800-186889400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:186887000-186887200	Enhancers	Fetal Muscle Leg	muscle
21	chr4:186887000-186887200	Enhancers	Lung	lung
22	chr4:186887000-186887200	Enhancers	HSMMtube	muscle
23	chr4:186887000-186887200	Enhancers	NH-A	brain
24	chr4:186887000-186887400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:186887000-186887400	Active TSS	Adipose Nuclei	Adipose
26	chr4:186887000-186887400	Enhancers	Placenta Amnion	Placenta Amnion
27	chr4:186887000-186887400	Active TSS	Rectal Smooth Muscle	rectum
28	chr4:186887000-186887400	Enhancers	NHLF	lung
29	chr4:186887000-186887600	Active TSS	Stomach Smooth Muscle	stomach
30	chr4:186887000-186888200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr4:186887000-186888200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:186887000-186888200	Enhancers	Right Atrium	heart
33	chr4:186887000-186888800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:186887000-186888800	Enhancers	Osteobl	bone
35	chr4:186887200-186887400	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr4:186887200-186887800	Weak transcription	NH-A	brain
37	chr4:186887200-186888000	Enhancers	Duodenum Mucosa	Duodenum
38	chr4:186887200-186888400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:186887200-186888800	Enhancers	HSMM	muscle
40	chr4:186887200-186890600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:186887400-186887600	Enhancers	Adipose Nuclei	Adipose
42	chr4:186887400-186887800	Weak transcription	HepG2	liver
43	chr4:186887800-186888000	Enhancers	Fetal Muscle Leg	muscle
44	chr4:186887800-186888000	Enhancers	Lung	lung
45	chr4:186887800-186888000	Enhancers	HepG2	liver
46	chr4:186887800-186888400	Enhancers	NH-A	brain
47	chr4:186887800-186888600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:186887800-186888600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr4:186888000-186888200	Enhancers	HSMMtube	muscle
50	chr4:186888000-186888400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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