Variant report

Variant	nsv979449
Chromosome Location	chr20:23967112-23971365
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:488)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr20:23970694-23970943	GM12878	blood:	n/a	n/a
2	CTCF	chr20:23968647-23968745	Kidney_OC	kidney:	n/a	n/a
3	CTCF	chr20:23968646-23968738	GM10248	blood:	n/a	n/a
4	EP300	chr20:23969790-23970051	GM12878	blood:	n/a	n/a
5	EP300	chr20:23970611-23970907	GM12878	blood:	n/a	n/a
6	FOXA1	chr20:23967503-23967693	T-47D	breast:	n/a	n/a
7	HEY1	chr20:23968172-23968378	K562	blood:	n/a	n/a
8	PAX5	chr20:23970512-23970962	GM12878	blood:	n/a	n/a
9	POU2F2	chr20:23970527-23970945	GM12878	blood:	n/a	n/a
10	SIN3AK20	chr20:23970743-23970850	HepG2	liver:	n/a	n/a
11	SIX5	chr20:23970507-23970887	K562	blood:	n/a	n/a
12	SIX5	chr20:23968145-23968341	K562	blood:	n/a	n/a
13	SIX5	chr20:23968054-23968423	K562	blood:	n/a	n/a
14	SIX5	chr20:23967747-23968018	K562	blood:	n/a	n/a
15	SIX5	chr20:23969024-23969282	K562	blood:	n/a	n/a
16	SPI1	chr20:23970597-23970938	K562	blood:	n/a	n/a
17	SPI1	chr20:23968171-23968319	K562	blood:	n/a	n/a
18	SPI1	chr20:23967875-23968044	K562	blood:	n/a	n/a
19	TCF3	chr20:23969019-23969237	GM12878	blood:	n/a	chr20:23969134-23969144
20	USF1	chr20:23968185-23968351	HepG2	liver:	n/a	n/a
21	ZBTB33	chr20:23969001-23969450	K562	blood:	n/a	chr20:23969411-23969420
22	ZBTB33	chr20:23970542-23970943	K562	blood:	n/a	n/a
23	ZBTB33	chr20:23968138-23968389	K562	blood:	n/a	n/a
24	ZBTB33	chr20:23970624-23970898	K562	blood:	n/a	n/a
25	ZBTB33	chr20:23967876-23968433	K562	blood:	n/a	n/a
26	ZBTB33	chr20:23968968-23969338	K562	blood:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:23969397-23969447	HepG2	liver:	n/a
2	chr20:23969429-23969479	HEEpiC	esophagus:	n/a
3	chr20:23969237-23969287	NB4	blood:	n/a
4	chr20:23969832-23969882	PFSK-1	brain:	n/a
5	chr20:23968830-23968880	HepG2	liver:	n/a
6	chr20:23970065-23970115	Jurkat	blood:	n/a
7	chr20:23969832-23969882	ProgFib	skin:	n/a
8	chr20:23969432-23969482	BJ	skin:	n/a
9	chr20:23969832-23969882	GM19239	blood:	n/a
10	chr20:23969832-23969882	HRE	kidney:	n/a
11	chr20:23968830-23968880	HL-60	blood:	n/a
12	chr20:23968830-23968880	T-47D	breast:	n/a
13	chr20:23969832-23969882	HPAEpiC	pulmonary alveolar:	n/a
14	chr20:23969832-23969882	IMR90	lung:	fetal
15	chr20:23969832-23969882	HUVEC	blood vessel:	n/a
16	chr20:23969429-23969479	HepG2	liver:	n/a
17	chr20:23969429-23969479	GM19239	blood:	n/a
18	chr20:23968830-23968880	PrEC	prostate:	n/a
19	chr20:23969397-23969447	HAEpiC	amniotic membrane:	n/a
20	chr20:23970065-23970115	Caco-2	colon:	n/a
21	chr20:23970162-23970212	CMK	blood:	n/a
22	chr20:23969429-23969479	SK-N-SH_RA	brain:	n/a
23	chr20:23969397-23969447	Hepatocyte	liver:	n/a
24	chr20:23969432-23969482	HEK293	kidney:	embryo
25	chr20:23969237-23969287	SK-N-MC	brain:	n/a
26	chr20:23970065-23970115	AoSMC	blood vessel:	n/a
27	chr20:23969832-23969882	PrEC	prostate:	n/a
28	chr20:23969237-23969287	GM12891	blood:	n/a
29	chr20:23970162-23970212	H1-hESC	embryonic stem cell:	embryo
30	chr20:23968830-23968880	SKMC	muscle:	n/a
31	chr20:23969237-23969287	SK-N-SH	brain:	n/a
32	chr20:23968830-23968880	H1-hESC	embryonic stem cell:	embryo
33	chr20:23969832-23969882	HCF	heart:	n/a
34	chr20:23968830-23968880	HCPEpiC	choroid plexus:	n/a
35	chr20:23969397-23969447	AG09309	skin:	n/a
36	chr20:23969237-23969287	HCF	heart:	n/a
37	chr20:23969397-23969447	NT2-D1	testis:	n/a
38	chr20:23969832-23969882	ovcar-3	ovarian:	n/a
39	chr20:23970065-23970115	U87	brain:	n/a
40	chr20:23969237-23969287	GM19239	blood:	n/a
41	chr20:23969432-23969482	PFSK-1	brain:	n/a
42	chr20:23970065-23970115	AG09309	skin:	n/a
43	chr20:23968830-23968880	NT2-D1	testis:	n/a
44	chr20:23969237-23969287	Hepatocyte	liver:	n/a
45	chr20:23968830-23968880	AG04449	skin:	fetal
46	chr20:23969832-23969882	HL-60	blood:	n/a
47	chr20:23968830-23968880	GM12892	blood:	n/a
48	chr20:23969397-23969447	HRE	kidney:	n/a
49	chr20:23970162-23970212	AG10803	skin:	n/a
50	chr20:23969432-23969482	AG04449	skin:	fetal

No data

Variant related genes	Relation type
GGTLC1	TF binding region
POM121L3P	TF binding region
GGTLC1	CpG island
POM121L3P	CpG island

Extended variants
information (count: 142 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551748126	chr20:23967510-23967511	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs190766643	chr20:23967511-23967512	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs182905354	chr20:23967563-23967564	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs550824345	chr20:23967634-23967635	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs6138181	chr20:23967751-23967752	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs575156635	chr20:23967775-23967776	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs374267905	chr20:23967786-23967787	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs6114399	chr20:23967800-23967801	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs560663127	chr20:23967813-23967814	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs78892310	chr20:23967837-23967838	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs574250828	chr20:23967851-23967852	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs542757575	chr20:23967852-23967853	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs77653961	chr20:23967875-23967876	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs540040931	chr20:23967919-23967920	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs554560984	chr20:23967924-23967925	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs201348819	chr20:23967936-23967937	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs192535783	chr20:23967969-23967970	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs183237727	chr20:23967982-23967983	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs565261157	chr20:23968010-23968011	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs530832614	chr20:23968058-23968059	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs144906232	chr20:23968079-23968080	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs3954817	chr20:23968096-23968097	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs567771565	chr20:23968102-23968103	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs187774247	chr20:23968112-23968113	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs199617687	chr20:23968128-23968129	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs200809648	chr20:23968138-23968139	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs201765338	chr20:23968143-23968144	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs62195279	chr20:23968161-23968162	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs62195280	chr20:23968174-23968175	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs547214154	chr20:23968198-23968199	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs567113349	chr20:23968203-23968204	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs536033983	chr20:23968242-23968243	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs375388354	chr20:23968303-23968304	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs539306351	chr20:23968335-23968336	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs559005886	chr20:23968340-23968341	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs575140578	chr20:23968342-23968343	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs565033471	chr20:23968348-23968349	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs554194492	chr20:23968371-23968372	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs74390673	chr20:23968373-23968374	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs574190597	chr20:23968379-23968380	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs6114400	chr20:23968381-23968382	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs112670304	chr20:23968386-23968387	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs4009398	chr20:23968404-23968405	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs559898763	chr20:23968420-23968421	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs12162450	chr20:23968655-23968656	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs562656470	chr20:23968659-23968660	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs9798526	chr20:23968664-23968665	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs374195433	chr20:23968676-23968677	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs200866217	chr20:23968677-23968678	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs12162448	chr20:23968678-23968679	Inactive region	TF binding region	2 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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