Variant report

Variant	nsv1057460
Chromosome Location	chr20:1579109-1599572
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr20:1589816-1589866	NHEK	skin:	n/a	n/a
4	CTCF	chr20:1583954-1584054	GM19239	blood:	n/a	chr20:1583996-1584006
5	CTCF	chr20:1593027-1593071	K562	blood:	n/a	n/a
6	CTCF	chr20:1594081-1594153	LNCaP	prostate:	n/a	n/a
7	CTCF	chr20:1583993-1584014	H1-hESC	embryonic stem cell:	n/a	chr20:1583996-1584006
8	CTCF	chr20:1583918-1584066	GM12878	blood:	n/a	chr20:1583996-1584006
9	CTCF	chr20:1599260-1599410	GM12870	blood:	n/a	n/a
10	CTCF	chr20:1599200-1599350	NB4	blood:	n/a	n/a
11	CTCF	chr20:1583938-1584013	HUVEC	blood vessel:	n/a	chr20:1583996-1584006
12	CTCF	chr20:1583974-1584038	GM10266	blood:	n/a	chr20:1583996-1584006
13	CTCF	chr20:1599240-1599390	GM06990	blood:	n/a	n/a
14	CTCF	chr20:1599289-1599318	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr20:1583923-1584071	GM12891	blood:	n/a	chr20:1583996-1584006
16	CTCF	chr20:1585205-1585266	GM10248	blood:	n/a	n/a
17	CTCF	chr20:1583950-1584135	GM12878	blood:	n/a	chr20:1583996-1584006
18	CTCF	chr20:1595313-1595408	GM12878	blood:	n/a	n/a
19	CTCF	chr20:1595316-1595438	HUVEC	blood vessel:	n/a	n/a
20	E2F4	chr20:1596569-1596779	MCF10A-Er-Src	breast:	n/a	n/a
21	EBF1	chr20:1599160-1599404	GM12878	blood:	n/a	n/a
22	EP300	chr20:1597667-1598072	SK-N-SH_RA	brain:	n/a	n/a
23	EP300	chr20:1597685-1598216	SK-N-SH_RA	brain:	n/a	n/a
24	EP300	chr20:1597694-1598043	Hela-S3	cervix:	n/a	n/a
25	FOS	chr20:1597654-1598180	HUVEC	blood vessel:	n/a	n/a
26	GATA2	chr20:1597568-1598284	HUVEC	blood vessel:	n/a	n/a
27	GATA3	chr20:1597872-1598067	SH-SY5Y	brain:	n/a	n/a
28	GATA3	chr20:1597619-1598351	SK-N-SH	brain:	n/a	n/a
29	GATA3	chr20:1597682-1598321	SK-N-SH	brain:	n/a	n/a
30	IKZF1	chr20:1597593-1597902	GM12878	blood:	n/a	n/a
31	JUN	chr20:1597585-1598235	HUVEC	blood vessel:	n/a	n/a
32	JUND	chr20:1596140-1596296	HepG2	liver:	n/a	n/a
33	JUND	chr20:1597646-1598261	SK-N-SH	brain:	n/a	n/a
34	MAFF	chr20:1593355-1593403	HepG2	liver:	n/a	n/a
35	MAFK	chr20:1593238-1593539	HepG2	liver:	n/a	n/a
36	MAFK	chr20:1593290-1593446	HepG2	liver:	n/a	n/a
37	MAFK	chr20:1597082-1597111	HepG2	liver:	n/a	n/a
38	MAFK	chr20:1596956-1597144	HepG2	liver:	n/a	n/a
39	MYC	chr20:1599129-1601288	NB4	blood:	n/a	n/a
40	MYC	chr20:1597861-1597864	HUVEC	blood vessel:	n/a	n/a
41	MYC	chr20:1586165-1586228	H1-hESC	embryonic stem cell:	n/a	n/a
42	NFIC	chr20:1597634-1598179	SK-N-SH	brain:	n/a	n/a
43	PBX3	chr20:1597746-1598208	SK-N-SH	brain:	n/a	n/a
44	PBX3	chr20:1597719-1598151	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr20:1597821-1597973	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr20:1589642-1589689	GM12878	blood:	n/a	n/a
47	POLR2A	chr20:1589549-1589563	GM12878	blood:	n/a	n/a
48	POLR2A	chr20:1585280-1585288	A549	lung:	n/a	n/a
49	POLR2A	chr20:1598031-1598123	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr20:1589161-1589254	K562	blood:	n/a	n/a

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

Extended variants
information (count: 519 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:519 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111639406	chr20:1579319-1579320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555313503	chr20:1579390-1579391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573930072	chr20:1579463-1579464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113528049	chr20:1579616-1579617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113248659	chr20:1579625-1579626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113492513	chr20:1579924-1579925	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71328072	chr20:1579997-1579998	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562832942	chr20:1580045-1580046	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs578082666	chr20:1580200-1580201	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545570468	chr20:1580207-1580208	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs720243	chr20:1580417-1580418	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535190461	chr20:1580499-1580500	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189694619	chr20:1580568-1580569	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs80103443	chr20:1580616-1580617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181470822	chr20:1580637-1580638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6079731	chr20:1581096-1581097	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549719636	chr20:1582173-1582174	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561653386	chr20:1582280-1582281	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577058902	chr20:1582341-1582342	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6079738	chr20:1582388-1582389	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs528865755	chr20:1582414-1582415	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550589409	chr20:1582465-1582466	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568814387	chr20:1582533-1582534	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184932234	chr20:1582697-1582698	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189737754	chr20:1582880-1582881	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199675626	chr20:1583229-1583230	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539156734	chr20:1583374-1583375	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144329733	chr20:1583425-1583426	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551127322	chr20:1583669-1583670	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183071272	chr20:1583791-1583792	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186442557	chr20:1583811-1583812	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73604177	chr20:1583824-1583825	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73604178	chr20:1583837-1583838	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375416436	chr20:1584006-1584007	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191796378	chr20:1584066-1584067	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537850757	chr20:1584302-1584303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111782610	chr20:1584631-1584632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113822123	chr20:1584639-1584640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556523191	chr20:1584756-1584757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2873568	chr20:1584878-1584879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs3968295	chr20:1584893-1584894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2317867	chr20:1584902-1584903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2317868	chr20:1584906-1584907	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs2317869	chr20:1585060-1585061	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs2317870	chr20:1585109-1585110	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs556158906	chr20:1585327-1585328	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs572655081	chr20:1585349-1585350	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs113852303	chr20:1585351-1585352	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs111393658	chr20:1585352-1585353	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs56057189	chr20:1585382-1585383	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1560000-1579200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr20:1569800-1587000	Weak transcription	Spleen	Spleen
3	chr20:1570400-1599800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr20:1571000-1599000	Weak transcription	Primary T cells from cord blood	blood
5	chr20:1578000-1584200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr20:1578400-1585000	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr20:1579000-1581000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr20:1579200-1580000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr20:1579800-1580600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr20:1580000-1591400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr20:1581000-1582000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr20:1584200-1590200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr20:1585000-1590000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr20:1588000-1589800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr20:1589600-1600000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr20:1589800-1593600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr20:1590000-1590600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
18	chr20:1590200-1592600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr20:1590600-1593200	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr20:1591400-1592400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr20:1592400-1599200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr20:1592600-1594600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr20:1593200-1594400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr20:1593600-1594400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr20:1594400-1595200	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr20:1594400-1598800	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr20:1594600-1597200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr20:1595200-1595400	Genic enhancers	Monocytes-CD14+_RO01746	blood
29	chr20:1595400-1596400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
30	chr20:1595800-1597200	Enhancers	Primary B cells from cord blood	blood
31	chr20:1596400-1602400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr20:1596600-1598400	Enhancers	Hela-S3	cervix
33	chr20:1596600-1599400	Enhancers	HUVEC	blood vessel
34	chr20:1597000-1597400	Enhancers	Primary B cells from peripheral blood	blood
35	chr20:1597200-1597600	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr20:1597200-1598400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr20:1597400-1598000	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr20:1597400-1599600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr20:1597600-1598400	Enhancers	Primary B cells from cord blood	blood
40	chr20:1598000-1599000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr20:1598000-1600200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr20:1598400-1598800	Active TSS	Primary monocytes fromperipheralblood	blood
43	chr20:1598400-1598800	Weak transcription	Primary B cells from cord blood	blood
44	chr20:1598400-1600600	Weak transcription	Hela-S3	cervix
45	chr20:1598600-1598800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr20:1598800-1599800	ZNF genes & repeats	Primary B cells from cord blood	blood
47	chr20:1598800-1600000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
48	chr20:1598800-1600200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr20:1598800-1600800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr20:1598800-1601800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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