Variant report

Variant	nsv965842
Chromosome Location	chr20:1592092-1599257
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr20:1597810-1598006	K562	blood:	n/a	n/a
2	CEBPB	chr20:1596225-1596242	HepG2	liver:	n/a	n/a
3	CTCF	chr20:1594081-1594153	LNCaP	prostate:	n/a	n/a
4	CTCF	chr20:1599200-1599350	NB4	blood:	n/a	n/a
5	CTCF	chr20:1595316-1595438	HUVEC	blood vessel:	n/a	n/a
6	CTCF	chr20:1595313-1595408	GM12878	blood:	n/a	n/a
7	CTCF	chr20:1593027-1593071	K562	blood:	n/a	n/a
8	CTCF	chr20:1599240-1599390	GM06990	blood:	n/a	n/a
9	E2F4	chr20:1596569-1596779	MCF10A-Er-Src	breast:	n/a	n/a
10	EBF1	chr20:1599160-1599404	GM12878	blood:	n/a	n/a
11	EP300	chr20:1597694-1598043	Hela-S3	cervix:	n/a	n/a
12	EP300	chr20:1597667-1598072	SK-N-SH_RA	brain:	n/a	n/a
13	EP300	chr20:1597685-1598216	SK-N-SH_RA	brain:	n/a	n/a
14	FOS	chr20:1597654-1598180	HUVEC	blood vessel:	n/a	n/a
15	GATA2	chr20:1597568-1598284	HUVEC	blood vessel:	n/a	n/a
16	GATA3	chr20:1597682-1598321	SK-N-SH	brain:	n/a	n/a
17	GATA3	chr20:1597872-1598067	SH-SY5Y	brain:	n/a	n/a
18	GATA3	chr20:1597619-1598351	SK-N-SH	brain:	n/a	n/a
19	IKZF1	chr20:1597593-1597902	GM12878	blood:	n/a	n/a
20	JUN	chr20:1597585-1598235	HUVEC	blood vessel:	n/a	n/a
21	JUND	chr20:1597646-1598261	SK-N-SH	brain:	n/a	n/a
22	JUND	chr20:1596140-1596296	HepG2	liver:	n/a	n/a
23	MAFF	chr20:1593355-1593403	HepG2	liver:	n/a	n/a
24	MAFK	chr20:1596956-1597144	HepG2	liver:	n/a	n/a
25	MAFK	chr20:1593238-1593539	HepG2	liver:	n/a	n/a
26	MAFK	chr20:1593290-1593446	HepG2	liver:	n/a	n/a
27	MAFK	chr20:1597082-1597111	HepG2	liver:	n/a	n/a
28	MYC	chr20:1597861-1597864	HUVEC	blood vessel:	n/a	n/a
29	MYC	chr20:1599129-1601288	NB4	blood:	n/a	n/a
30	NFIC	chr20:1597634-1598179	SK-N-SH	brain:	n/a	n/a
31	PBX3	chr20:1597746-1598208	SK-N-SH	brain:	n/a	n/a
32	PBX3	chr20:1597719-1598151	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr20:1597578-1598200	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr20:1597821-1597973	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr20:1598031-1598123	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr20:1597649-1598301	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr20:1597696-1598034	HUVEC	blood vessel:	n/a	n/a
38	RUNX3	chr20:1597394-1598017	GM12878	blood:	n/a	n/a
39	SPI1	chr20:1597339-1597641	GM12891	blood:	n/a	n/a
40	TCF12	chr20:1597769-1598281	SK-N-SH	brain:	n/a	n/a
41	TCF12	chr20:1597658-1598304	SK-N-SH	brain:	n/a	n/a
42	TEAD4	chr20:1597638-1598228	SK-N-SH	brain:	n/a	n/a
43	TEAD4	chr20:1597640-1598159	SK-N-SH	brain:	n/a	n/a
44	YY1	chr20:1597630-1598076	SK-N-SH_RA	brain:	n/a	n/a

No data

Variant related genes	Relation type
SIRPB1	TF binding region
ENSG00000260861	TF binding region

Extended variants
information (count: 311 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:311 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs45573839	chr20:1592094-1592095	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1135202	chr20:1592114-1592115	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs202100834	chr20:1592118-1592119	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1135201	chr20:1592120-1592121	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs45520837	chr20:1592135-1592136	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149722469	chr20:1592139-1592140	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141518677	chr20:1592141-1592142	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201646968	chr20:1592152-1592153	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200203262	chr20:1592154-1592155	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201724217	chr20:1592175-1592176	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371465078	chr20:1592193-1592194	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs41289057	chr20:1592215-1592216	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
13	rs45497395	chr20:1592219-1592220	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570643246	chr20:1592230-1592231	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191373314	chr20:1592255-1592256	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546837154	chr20:1592259-1592260	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1135199	chr20:1592262-1592263	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs45471597	chr20:1592265-1592266	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs1135197	chr20:1592278-1592279	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1135196	chr20:1592284-1592285	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs1141353	chr20:1592289-1592290	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1135195	chr20:1592291-1592292	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs72484087	chr20:1592312-1592313	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs200963975	chr20:1592343-1592344	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139138248	chr20:1592352-1592353	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145146965	chr20:1592355-1592356	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145917713	chr20:1592358-1592359	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145218283	chr20:1592375-1592376	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139926854	chr20:1592383-1592384	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541184008	chr20:1592385-1592386	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199580865	chr20:1592387-1592388	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144483378	chr20:1592390-1592391	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200926806	chr20:1592399-1592400	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201264303	chr20:1592434-1592435	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552902976	chr20:1592458-1592459	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375711758	chr20:1592474-1592475	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369951764	chr20:1592479-1592480	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201926419	chr20:1592480-1592481	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374428184	chr20:1592481-1592482	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377155862	chr20:1592483-1592484	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369511101	chr20:1592485-1592486	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199558666	chr20:1592488-1592489	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6079803	chr20:1592489-1592490	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570396725	chr20:1592499-1592500	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376559891	chr20:1592515-1592516	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370659439	chr20:1592516-1592517	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372623629	chr20:1592517-1592518	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376954259	chr20:1592522-1592523	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371146808	chr20:1592523-1592524	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182406136	chr20:1592526-1592527	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Glioblastoma multiforme	22286061	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	19455253	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17603634	CNVD
Colorectal cancer	19359472	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16774939	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1570400-1599800	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr20:1571000-1599000	Weak transcription	Primary T cells from cord blood	blood
3	chr20:1589600-1600000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr20:1589800-1593600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr20:1590200-1592600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr20:1590600-1593200	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr20:1591400-1592400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr20:1592400-1599200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr20:1592600-1594600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr20:1593200-1594400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr20:1593600-1594400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr20:1594400-1595200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr20:1594400-1598800	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr20:1594600-1597200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr20:1595200-1595400	Genic enhancers	Monocytes-CD14+_RO01746	blood
16	chr20:1595400-1596400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
17	chr20:1595800-1597200	Enhancers	Primary B cells from cord blood	blood
18	chr20:1596400-1602400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr20:1596600-1598400	Enhancers	Hela-S3	cervix
20	chr20:1596600-1599400	Enhancers	HUVEC	blood vessel
21	chr20:1597000-1597400	Enhancers	Primary B cells from peripheral blood	blood
22	chr20:1597200-1597600	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr20:1597200-1598400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr20:1597400-1598000	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr20:1597400-1599600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr20:1597600-1598400	Enhancers	Primary B cells from cord blood	blood
27	chr20:1598000-1599000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr20:1598000-1600200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr20:1598400-1598800	Active TSS	Primary monocytes fromperipheralblood	blood
30	chr20:1598400-1598800	Weak transcription	Primary B cells from cord blood	blood
31	chr20:1598400-1600600	Weak transcription	Hela-S3	cervix
32	chr20:1598600-1598800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr20:1598800-1599800	ZNF genes & repeats	Primary B cells from cord blood	blood
34	chr20:1598800-1600000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr20:1598800-1600200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr20:1598800-1600800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr20:1598800-1601800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr20:1599000-1599400	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr20:1599000-1600000	ZNF genes & repeats	Primary T cells from cord blood	blood
40	chr20:1599000-1601800	Enhancers	Spleen	Spleen
41	chr20:1599200-1599800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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