Variant report

Variant	nsv979451
Chromosome Location	chr20:25836169-25856112
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:521)
CpG islands
(count:183)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:521 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:25848512-25848702	K562	blood:	n/a	n/a
2	ATF3	chr20:25843689-25844092	HepG2	liver:	n/a	n/a
3	BACH1	chr20:25848341-25848706	K562	blood:	n/a	n/a
4	BCL11A	chr20:25843000-25843149	GM12878	blood:	n/a	n/a
5	BCL11A	chr20:25846720-25846953	GM12878	blood:	n/a	n/a
6	BCL11A	chr20:25846694-25846979	GM12878	blood:	n/a	n/a
7	BHLHE40	chr20:25838692-25838875	K562	blood:	n/a	n/a
8	BHLHE40	chr20:25840427-25840668	K562	blood:	n/a	n/a
9	BHLHE40	chr20:25848340-25848714	K562	blood:	n/a	n/a
10	BHLHE40	chr20:25844497-25844502	K562	blood:	n/a	n/a
11	BHLHE40	chr20:25843608-25844126	K562	blood:	n/a	n/a
12	BRCA1	chr20:25848519-25848534	GM12878	blood:	n/a	n/a
13	BRCA1	chr20:25848499-25848704	HepG2	liver:	n/a	n/a
14	CBX3	chr20:25843839-25844188	K562	blood:	n/a	n/a
15	CCNT2	chr20:25843881-25844128	K562	blood:	n/a	n/a
16	CEBPB	chr20:25844039-25844135	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr20:25843063-25843150	K562	blood:	n/a	n/a
18	CEBPB	chr20:25838694-25838720	K562	blood:	n/a	n/a
19	CEBPB	chr20:25849580-25849737	HepG2	liver:	n/a	n/a
20	CEBPB	chr20:25844508-25844516	HepG2	liver:	n/a	n/a
21	CEBPB	chr20:25841958-25842158	K562	blood:	n/a	n/a
22	CEBPB	chr20:25848333-25848714	K562	blood:	n/a	n/a
23	CEBPB	chr20:25843604-25843807	K562	blood:	n/a	n/a
24	CEBPB	chr20:25848498-25848709	HepG2	liver:	n/a	n/a
25	CEBPB	chr20:25843000-25843241	K562	blood:	n/a	n/a
26	CEBPB	chr20:25846248-25846410	HepG2	liver:	n/a	n/a
27	CHD2	chr20:25848510-25848542	GM12878	blood:	n/a	n/a
28	CHD2	chr20:25848346-25848713	K562	blood:	n/a	n/a
29	CREB1	chr20:25842055-25842489	A549	lung:	n/a	n/a
30	CTBP2	chr20:25840333-25840793	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr20:25843863-25844169	GM12878	blood:	n/a	n/a
32	CTCF	chr20:25845594-25845630	LNCaP	prostate:	n/a	n/a
33	CTCF	chr20:25853639-25853670	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr20:25842318-25842444	HepG2	liver:	n/a	n/a
35	CTCF	chr20:25842258-25842501	LNCaP	prostate:	n/a	n/a
36	CTCF	chr20:25842303-25842442	GM10248	blood:	n/a	n/a
37	CTCF	chr20:25842272-25842488	GM12892	blood:	n/a	n/a
38	CTCF	chr20:25842289-25842469	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr20:25842278-25842456	Spleen_OC	spleen:	n/a	n/a
40	CTCF	chr20:25843872-25844162	HepG2	liver:	n/a	n/a
41	CTCF	chr20:25842300-25842448	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr20:25842295-25842465	Gliobla	brain:	n/a	n/a
43	CTCF	chr20:25843993-25844092	GM13976	blood:	n/a	n/a
44	CTCF	chr20:25842305-25842449	MCF-7	breast:	n/a	n/a
45	CTCF	chr20:25842290-25842469	GM19240	blood:	n/a	n/a
46	CTCF	chr20:25843984-25844086	K562	blood:	n/a	n/a
47	CTCF	chr20:25842299-25842462	HUVEC	blood vessel:	n/a	n/a
48	CTCF	chr20:25843961-25844070	MCF-7	breast:	n/a	n/a
49	CTCF	chr20:25842292-25842452	A549	lung:	n/a	n/a
50	CTCF	chr20:25843940-25844103	GM12892	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:25846519-25846569	HCF	heart:	n/a
2	chr20:25848886-25848936	H1-hESC	embryonic stem cell:	embryo
3	chr20:25848969-25849019	GM12878	blood:	n/a
4	chr20:25848969-25849019	T-47D	breast:	n/a
5	chr20:25846519-25846569	HNPCEpiC	eye:	n/a
6	chr20:25848969-25849019	A549	lung:	n/a
7	chr20:25848969-25849019	Hepatocyte	liver:	n/a
8	chr20:25848969-25849019	MCF-7	breast:	n/a
9	chr20:25848969-25849019	SKMC	muscle:	n/a
10	chr20:25848969-25849019	AoSMC	blood vessel:	n/a
11	chr20:25848886-25848936	MCF-7	breast:	n/a
12	chr20:25848886-25848936	HepG2	liver:	n/a
13	chr20:25848969-25849019	HL-60	blood:	n/a
14	chr20:25848886-25848936	SAEC	small airway:	n/a
15	chr20:25846519-25846569	NHDF-neo	bronchial:	n/a
16	chr20:25846519-25846569	CMK	blood:	n/a
17	chr20:25846519-25846569	IMR90	lung:	fetal
18	chr20:25846519-25846569	K562	blood:	n/a
19	chr20:25848886-25848936	PrEC	prostate:	n/a
20	chr20:25846519-25846569	PANC-1	pancreas:	n/a
21	chr20:25848969-25849019	PrEC	prostate:	n/a
22	chr20:25848969-25849019	SK-N-SH_RA	brain:	n/a
23	chr20:25846519-25846569	HAEpiC	amniotic membrane:	n/a
24	chr20:25846519-25846569	PFSK-1	brain:	n/a
25	chr20:25848886-25848936	CMK	blood:	n/a
26	chr20:25846519-25846569	A549	lung:	n/a
27	chr20:25846519-25846569	HCPEpiC	choroid plexus:	n/a
28	chr20:25846519-25846569	Jurkat	blood:	n/a
29	chr20:25848886-25848936	U87	brain:	n/a
30	chr20:25848969-25849019	HAEpiC	amniotic membrane:	n/a
31	chr20:25848969-25849019	HRE	kidney:	n/a
32	chr20:25848969-25849019	HRCEpiC	kidney:	n/a
33	chr20:25848886-25848936	HNPCEpiC	eye:	n/a
34	chr20:25848886-25848936	AoSMC	blood vessel:	n/a
35	chr20:25848886-25848936	HRE	kidney:	n/a
36	chr20:25848969-25849019	IMR90	lung:	fetal
37	chr20:25848969-25849019	GM06990	blood:	n/a
38	chr20:25846519-25846569	ovcar-3	ovarian:	n/a
39	chr20:25848886-25848936	T-47D	breast:	n/a
40	chr20:25848969-25849019	PANC-1	pancreas:	n/a
41	chr20:25846519-25846569	ECC-1	luminal epithelium:	n/a
42	chr20:25846519-25846569	Hela-S3	cervix:	n/a
43	chr20:25848886-25848936	NHDF-neo	bronchial:	n/a
44	chr20:25848969-25849019	AG09319	gingival:	n/a
45	chr20:25848969-25849019	NB4	blood:	n/a
46	chr20:25848886-25848936	HCPEpiC	choroid plexus:	n/a
47	chr20:25848969-25849019	HMEC	breast:	n/a
48	chr20:25846519-25846569	HMEC	breast:	n/a
49	chr20:25848886-25848936	NT2-D1	testis:	n/a
50	chr20:25848969-25849019	PFSK-1	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:25604447..25606097-chr20:25837225..25840203,2	MCF-7	breast:

No data

Variant related genes	Relation type
FAM182B	TF binding region
FAM182B	CpG island
ENSG00000170191	chromatin interactions
ENSG00000213742	chromatin interactions

Extended variants
information (count: 1407 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:1407 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78669639	chr20:25836190-25836191	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543357721	chr20:25836202-25836203	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563145522	chr20:25836218-25836219	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79639554	chr20:25836219-25836220	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75608341	chr20:25836231-25836232	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76762159	chr20:25836232-25836233	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548689903	chr20:25836233-25836234	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79857307	chr20:25836239-25836240	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs199947477	chr20:25836250-25836251	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200967307	chr20:25836255-25836256	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73904693	chr20:25836258-25836259	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6037250	chr20:25836289-25836290	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1970599	chr20:25836290-25836291	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539750187	chr20:25836299-25836300	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78278501	chr20:25836313-25836314	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77058675	chr20:25836329-25836330	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35414172	chr20:25836346-25836347	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs569968049	chr20:25836361-25836362	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73348951	chr20:25836363-25836364	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75166086	chr20:25836376-25836377	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73348954	chr20:25836401-25836402	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565724170	chr20:25836409-25836410	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs72490875	chr20:25836414-25836415	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76658531	chr20:25836428-25836429	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74910073	chr20:25836429-25836430	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535925060	chr20:25836430-25836431	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555926325	chr20:25836438-25836439	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34915233	chr20:25836466-25836467	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73102161	chr20:25836475-25836476	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191886623	chr20:25836477-25836478	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74604384	chr20:25836478-25836479	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79302283	chr20:25836488-25836489	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76817432	chr20:25836494-25836495	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534856000	chr20:25836498-25836499	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557985997	chr20:25836499-25836500	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577826489	chr20:25836501-25836502	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543368038	chr20:25836509-25836510	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140999466	chr20:25836520-25836521	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563265678	chr20:25836521-25836522	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77516320	chr20:25836522-25836523	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573581985	chr20:25836523-25836524	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78476807	chr20:25836528-25836529	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542295770	chr20:25836538-25836539	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs67054632	chr20:25836539-25836540	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs72490876	chr20:25836558-25836559	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs67541348	chr20:25836567-25836568	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376286890	chr20:25836586-25836587	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371423977	chr20:25836587-25836588	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374651211	chr20:25836592-25836593	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs367571887	chr20:25836603-25836604	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

Disease	PMID	Source
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
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:1615 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25829400-25836200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr20:25835000-25836200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:25835000-25838600	Weak transcription	Gastric	stomach
4	chr20:25835000-25840200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr20:25835200-25837000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr20:25835200-25837800	Weak transcription	Brain Angular Gyrus	brain
7	chr20:25835200-25837800	Weak transcription	Brain Hippocampus Middle	brain
8	chr20:25835200-25838400	Weak transcription	K562	blood
9	chr20:25835200-25838600	Weak transcription	Liver	Liver
10	chr20:25835200-25838600	Weak transcription	Fetal Heart	heart
11	chr20:25835200-25838600	Weak transcription	Psoas Muscle	Psoas
12	chr20:25835400-25836400	Enhancers	Fetal Brain Female	brain
13	chr20:25835400-25838600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr20:25835400-25838600	Weak transcription	Right Atrium	heart
15	chr20:25835400-25838600	Weak transcription	Right Ventricle	heart
16	chr20:25835600-25836400	Enhancers	Brain Anterior Caudate	brain
17	chr20:25835600-25836800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr20:25835600-25838400	Weak transcription	Fetal Brain Male	brain
19	chr20:25835600-25838600	Weak transcription	Left Ventricle	heart
20	chr20:25835800-25836400	Weak transcription	Spleen	Spleen
21	chr20:25836000-25836200	Weak transcription	Dnd41	blood
22	chr20:25836200-25836400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr20:25836200-25836600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr20:25836200-25837000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr20:25836200-25837000	ZNF genes & repeats	Dnd41	blood
26	chr20:25836400-25836600	Enhancers	Spleen	Spleen
27	chr20:25836400-25837200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr20:25836400-25837800	Weak transcription	Brain Anterior Caudate	brain
29	chr20:25836400-25837800	Weak transcription	Fetal Brain Female	brain
30	chr20:25836600-25837200	ZNF genes & repeats	Spleen	Spleen
31	chr20:25836600-25838600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr20:25836800-25838600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr20:25837000-25838200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr20:25837200-25838600	Weak transcription	Spleen	Spleen
35	chr20:25837600-25839600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr20:25837800-25838000	Active TSS	Brain Angular Gyrus	brain
37	chr20:25837800-25838000	Enhancers	Brain Hippocampus Middle	brain
38	chr20:25837800-25838200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr20:25837800-25838400	Enhancers	Brain Anterior Caudate	brain
40	chr20:25837800-25840200	Active TSS	Brain Germinal Matrix	brain
41	chr20:25837800-25840200	Active TSS	Fetal Brain Female	brain
42	chr20:25838000-25838200	Enhancers	Brain Angular Gyrus	brain
43	chr20:25838000-25838600	Weak transcription	Brain Hippocampus Middle	brain
44	chr20:25838200-25838400	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr20:25838200-25838600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr20:25838200-25838600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
47	chr20:25838200-25839200	Active TSS	Brain Cingulate Gyrus	brain
48	chr20:25838200-25839200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr20:25838200-25839800	Active TSS	Brain Angular Gyrus	brain
50	chr20:25838400-25838600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell

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