Variant report

Variant	nsv596388
Chromosome Location	chr4:186884336-186935835
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	chr4:186911301..186912971-chr4:186916620..186919384,2	K562	blood:
3	chr4:186895004..186896872-chr4:186900773..186902842,2	K562	blood:
4	chr4:186884071..186886436-chr4:186886448..186888967,3	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: 1801 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1801 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1454746	chr4:186884336-186884337	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73023709	chr4:186884380-186884381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs189237595	chr4:186884388-186884389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543001254	chr4:186884406-186884407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192263995	chr4:186884447-186884448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570886299	chr4:186884486-186884487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182682151	chr4:186884575-186884576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73023710	chr4:186884611-186884612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs574212753	chr4:186884620-186884621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74562944	chr4:186884699-186884700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78722249	chr4:186884723-186884724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4404591	chr4:186884740-186884741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553266560	chr4:186884784-186884785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573494803	chr4:186884795-186884796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186889899	chr4:186884929-186884930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141007568	chr4:186884944-186884945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75224681	chr4:186884968-186884969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372431469	chr4:186885050-186885051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76113177	chr4:186885068-186885069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72711509	chr4:186885072-186885073	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs191632481	chr4:186885076-186885077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184212870	chr4:186885115-186885116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562004834	chr4:186885116-186885117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559266836	chr4:186885119-186885120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528297687	chr4:186885130-186885131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551059833	chr4:186885134-186885135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10028557	chr4:186885166-186885167	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs538918397	chr4:186885169-186885170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368069416	chr4:186885175-186885176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10028625	chr4:186885213-186885214	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs112156589	chr4:186885302-186885303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11132375	chr4:186885332-186885333	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs567278533	chr4:186885347-186885348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13113879	chr4:186885353-186885354	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs12641067	chr4:186885364-186885365	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs7692301	chr4:186885374-186885375	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs539275104	chr4:186885414-186885415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12641089	chr4:186885422-186885423	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs7668213	chr4:186885440-186885441	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs114377461	chr4:186885452-186885453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561091804	chr4:186885460-186885461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529200838	chr4:186885478-186885479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113468866	chr4:186885480-186885481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34579949	chr4:186885485-186885486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35980760	chr4:186885502-186885503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150212824	chr4:186885523-186885524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138774222	chr4:186885525-186885526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368889509	chr4:186885556-186885557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193202531	chr4:186885601-186885602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530494715	chr4:186885619-186885620	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:231 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186877600-186885000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:186882800-186886400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr4:186882800-186886800	Weak transcription	Adipose Nuclei	Adipose
4	chr4:186883000-186886800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr4:186883000-186888000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:186885000-186885800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:186885400-186885600	Enhancers	Ovary	ovary
8	chr4:186885600-186886200	Weak transcription	Ovary	ovary
9	chr4:186886200-186888200	Enhancers	Ovary	ovary
10	chr4:186886400-186886600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr4:186886400-186886800	Enhancers	Fetal Intestine Large	intestine
12	chr4:186886400-186887200	Enhancers	Fetal Intestine Small	intestine
13	chr4:186886400-186887400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr4:186886400-186887400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr4:186886400-186887400	Enhancers	HepG2	liver
16	chr4:186886400-186888600	Enhancers	HUVEC	blood vessel
17	chr4:186886600-186886800	Enhancers	Duodenum Mucosa	Duodenum
18	chr4:186886600-186887000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr4:186886600-186887000	Enhancers	Small Intestine	intestine
20	chr4:186886600-186887200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:186886600-186888000	Enhancers	Right Ventricle	heart
22	chr4:186886600-186888200	Enhancers	Placenta	Placenta
23	chr4:186886600-186888200	Enhancers	Left Ventricle	heart
24	chr4:186886600-186889200	Enhancers	Hela-S3	cervix
25	chr4:186886800-186887000	Enhancers	Adipose Nuclei	Adipose
26	chr4:186886800-186887200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr4:186886800-186887200	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr4:186886800-186887400	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr4:186886800-186887400	Enhancers	Primary B cells from peripheral blood	blood
30	chr4:186886800-186887400	Active TSS	Monocytes-CD14+_RO01746	blood
31	chr4:186886800-186889000	Enhancers	NHDF-Ad	bronchial
32	chr4:186886800-186889400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:186887000-186887200	Enhancers	Fetal Muscle Leg	muscle
34	chr4:186887000-186887200	Enhancers	Lung	lung
35	chr4:186887000-186887200	Enhancers	HSMMtube	muscle
36	chr4:186887000-186887200	Enhancers	NH-A	brain
37	chr4:186887000-186887400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr4:186887000-186887400	Active TSS	Adipose Nuclei	Adipose
39	chr4:186887000-186887400	Enhancers	Placenta Amnion	Placenta Amnion
40	chr4:186887000-186887400	Active TSS	Rectal Smooth Muscle	rectum
41	chr4:186887000-186887400	Enhancers	NHLF	lung
42	chr4:186887000-186887600	Active TSS	Stomach Smooth Muscle	stomach
43	chr4:186887000-186888200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr4:186887000-186888200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr4:186887000-186888200	Enhancers	Right Atrium	heart
46	chr4:186887000-186888800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:186887000-186888800	Enhancers	Osteobl	bone
48	chr4:186887200-186887400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr4:186887200-186887800	Weak transcription	NH-A	brain
50	chr4:186887200-186888000	Enhancers	Duodenum Mucosa	Duodenum

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