Variant report

Variant	esv16644
Chromosome Location	chr20:23971832-23976616
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:72)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:72 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr20:23974118-23974138	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr20:23975310-23975508	K562	blood:	n/a	n/a
3	EBF1	chr20:23975425-23975637	GM12878	blood:	n/a	n/a
4	EP300	chr20:23975331-23975855	GM12878	blood:	n/a	n/a
5	EP300	chr20:23975284-23975425	GM12878	blood:	n/a	n/a
6	EP300	chr20:23974809-23975294	GM12878	blood:	n/a	n/a
7	FOSL2	chr20:23973056-23973434	HepG2	liver:	n/a	n/a
8	FOSL2	chr20:23974367-23976083	HepG2	liver:	n/a	n/a
9	FOSL2	chr20:23973805-23974120	HepG2	liver:	n/a	n/a
10	GATA2	chr20:23975144-23975872	K562	blood:	n/a	n/a
11	HDAC2	chr20:23976525-23976737	H1-hESC	embryonic stem cell:	n/a	n/a
12	HEY1	chr20:23975148-23975787	K562	blood:	n/a	n/a
13	HEY1	chr20:23974771-23975751	K562	blood:	n/a	n/a
14	IRF4	chr20:23975898-23976281	GM12878	blood:	n/a	n/a
15	JUND	chr20:23976399-23976646	HepG2	liver:	n/a	n/a
16	JUND	chr20:23972777-23972900	HepG2	liver:	n/a	chr20:23972815-23972826
17	JUND	chr20:23974997-23975132	HepG2	liver:	n/a	n/a
18	PAX5	chr20:23974526-23974699	GM12878	blood:	n/a	n/a
19	PAX5	chr20:23973853-23974204	GM12878	blood:	n/a	n/a
20	PAX5	chr20:23976384-23976554	GM12878	blood:	n/a	n/a
21	PAX5	chr20:23976073-23976301	GM12878	blood:	n/a	n/a
22	PAX5	chr20:23973117-23973351	GM12878	blood:	n/a	n/a
23	PAX5	chr20:23973914-23974130	GM12878	blood:	n/a	n/a
24	PAX5	chr20:23975826-23976176	GM12878	blood:	n/a	n/a
25	PAX5	chr20:23975182-23975551	GM12878	blood:	n/a	n/a
26	PAX5	chr20:23974797-23975732	GM12878	blood:	n/a	n/a
27	PBX3	chr20:23975453-23975592	GM12878	blood:	n/a	n/a
28	POLR2A	chr20:23975662-23976683	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr20:23975174-23975587	GM12878	blood:	n/a	n/a
30	POLR2A	chr20:23975318-23975590	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr20:23974882-23975525	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr20:23975225-23975671	H1-hESC	embryonic stem cell:	n/a	n/a
33	POU2F2	chr20:23973008-23973368	GM12878	blood:	n/a	n/a
34	POU2F2	chr20:23976274-23976686	GM12878	blood:	n/a	n/a
35	POU2F2	chr20:23975110-23976111	GM12878	blood:	n/a	n/a
36	RAD21	chr20:23975305-23975572	H1-hESC	embryonic stem cell:	n/a	n/a
37	REST	chr20:23976352-23976657	H1-hESC	embryonic stem cell:	n/a	chr20:23976598-23976611
38	REST	chr20:23976381-23976656	H1-hESC	embryonic stem cell:	n/a	chr20:23976598-23976611
39	SIN3AK20	chr20:23973945-23974106	HepG2	liver:	n/a	n/a
40	SIN3AK20	chr20:23973178-23973299	HepG2	liver:	n/a	n/a
41	SIN3AK20	chr20:23976431-23976616	HepG2	liver:	n/a	n/a
42	SIX5	chr20:23975295-23976011	K562	blood:	n/a	n/a
43	SIX5	chr20:23974335-23974689	K562	blood:	n/a	n/a
44	SIX5	chr20:23976367-23976674	K562	blood:	n/a	n/a
45	SIX5	chr20:23976386-23976603	K562	blood:	n/a	n/a
46	SIX5	chr20:23974813-23976105	K562	blood:	n/a	n/a
47	SIX5	chr20:23973887-23974233	K562	blood:	n/a	n/a
48	SPI1	chr20:23973941-23974083	K562	blood:	n/a	n/a
49	SPI1	chr20:23975111-23975769	K562	blood:	n/a	n/a
50	SPI1	chr20:23976496-23976650	K562	blood:	n/a	chr20:23976614-23976621

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:23972451-23972501	HUVEC	blood vessel:	n/a
2	chr20:23972451-23972501	HCM	heart:	n/a
3	chr20:23972451-23972501	ECC-1	luminal epithelium:	n/a
4	chr20:23972451-23972501	HRE	kidney:	n/a
5	chr20:23972451-23972501	SK-N-MC	brain:	n/a
6	chr20:23972451-23972501	HMEC	breast:	n/a
7	chr20:23972451-23972501	GM06990	blood:	n/a
8	chr20:23972451-23972501	Caco-2	colon:	n/a
9	chr20:23972451-23972501	BJ	skin:	n/a
10	chr20:23972451-23972501	NT2-D1	testis:	n/a
11	chr20:23972451-23972501	NHBE	bronchial:	n/a
12	chr20:23972451-23972501	RPTEC	kidney:	n/a
13	chr20:23972451-23972501	HRCEpiC	kidney:	n/a
14	chr20:23972451-23972501	SKMC	muscle:	n/a
15	chr20:23972451-23972501	CMK	blood:	n/a
16	chr20:23972451-23972501	BE2_C	brain:	n/a
17	chr20:23972451-23972501	SAEC	small airway:	n/a
18	chr20:23972451-23972501	GM12878	blood:	n/a
19	chr20:23972451-23972501	ProgFib	skin:	n/a
20	chr20:23972451-23972501	IMR90	lung:	fetal
21	chr20:23972451-23972501	PANC-1	pancreas:	n/a
22	chr20:23972451-23972501	AG04450	lung:	fetal
23	chr20:23972451-23972501	K562	blood:	n/a
24	chr20:23972451-23972501	HCF	heart:	n/a
25	chr20:23972451-23972501	AG09309	skin:	n/a
26	chr20:23972451-23972501	LNCaP	prostate:	n/a
27	chr20:23972451-23972501	HCT-116	colon:	n/a
28	chr20:23972451-23972501	MCF-7	breast:	n/a
29	chr20:23972451-23972501	AG09319	gingival:	n/a
30	chr20:23972451-23972501	AoSMC	blood vessel:	n/a
31	chr20:23972451-23972501	ovcar-3	ovarian:	n/a
32	chr20:23972451-23972501	Jurkat	blood:	n/a
33	chr20:23972451-23972501	GM12892	blood:	n/a
34	chr20:23972451-23972501	NHDF-neo	bronchial:	n/a
35	chr20:23972451-23972501	HL-60	blood:	n/a
36	chr20:23972451-23972501	GM19239	blood:	n/a
37	chr20:23972451-23972501	Hela-S3	cervix:	n/a
38	chr20:23972451-23972501	AG04449	skin:	fetal
39	chr20:23972451-23972501	SK-N-SH	brain:	n/a
40	chr20:23972451-23972501	MCF10A-Er-Src	breast:	n/a
41	chr20:23972451-23972501	T-47D	breast:	n/a
42	chr20:23972451-23972501	AG10803	skin:	n/a
43	chr20:23972451-23972501	U87	brain:	n/a
44	chr20:23972451-23972501	A549	lung:	n/a
45	chr20:23972451-23972501	NB4	blood:	n/a
46	chr20:23972451-23972501	NH-A	brain:	n/a
47	chr20:23972451-23972501	HEEpiC	esophagus:	n/a
48	chr20:23972451-23972501	HIPEpiC	eye:	n/a
49	chr20:23972451-23972501	SK-N-SH_RA	brain:	n/a
50	chr20:23972451-23972501	HEK293	kidney:	embryo

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:23870329..23871235-chr20:23976503..23977926,6	MCF-7	breast:
2	chr20:23917673..23918874-chr20:23976593..23977514,3	K562	blood:
3	chr20:23976507..23978682-chr20:23981230..23983499,2	K562	blood:

No data

Variant related genes	Relation type
GGTLC1	TF binding region
GGTLC1	CpG island

Extended variants
information (count: 104 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4009399	chr20:23972191-23972192	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs3865543	chr20:23972196-23972197	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs189714876	chr20:23972255-23972256	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs551127879	chr20:23972276-23972277	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs567825090	chr20:23972301-23972302	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs3859639	chr20:23972310-23972311	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs530337821	chr20:23972325-23972326	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs547223300	chr20:23972426-23972427	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs6049286	chr20:23972452-23972453	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs537045085	chr20:23972483-23972484	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs180952037	chr20:23972487-23972488	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs537515212	chr20:23972488-23972489	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs140454152	chr20:23972788-23972789	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs113031305	chr20:23972791-23972792	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs111662278	chr20:23972797-23972798	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs112134438	chr20:23972807-23972808	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs6049287	chr20:23972830-23972831	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs560781765	chr20:23972858-23972859	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs569496170	chr20:23972888-23972889	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs532681333	chr20:23972900-23972901	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs537452387	chr20:23973009-23973010	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs189505043	chr20:23973012-23973013	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs567807087	chr20:23973038-23973039	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs7262451	chr20:23973063-23973064	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs371734563	chr20:23973130-23973131	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs71332627	chr20:23973144-23973145	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs562584591	chr20:23973157-23973158	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs149131031	chr20:23973159-23973160	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs182080843	chr20:23973166-23973167	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs572709181	chr20:23973167-23973168	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs3859640	chr20:23973176-23973177	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs7262657	chr20:23973177-23973178	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs4081139	chr20:23973191-23973192	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs4081138	chr20:23973192-23973193	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs7262662	chr20:23973194-23973195	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs575661341	chr20:23973201-23973202	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs544624495	chr20:23973230-23973231	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs4505595	chr20:23973235-23973236	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs561303474	chr20:23973236-23973237	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs3897155	chr20:23973276-23973277	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs4079828	chr20:23973310-23973311	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs574831194	chr20:23973313-23973314	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs534608242	chr20:23973319-23973320	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs3865544	chr20:23973321-23973322	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs3869588	chr20:23973336-23973337	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs532764585	chr20:23973348-23973349	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs3895274	chr20:23973355-23973356	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs139100146	chr20:23973356-23973357	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs574372234	chr20:23973360-23973361	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs562852325	chr20:23973362-23973363	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
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
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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