Variant report

Variant	nsv979422
Chromosome Location	chr20:25732656-25867609
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1100)
CpG islands
(count:305)
Chromatin interactive
region (count:1)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1100 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

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	BATF	chr20:25825481-25825754	GM12878	blood:	n/a	n/a
5	BATF	chr20:25734352-25734580	GM12878	blood:	n/a	n/a
6	BCL11A	chr20:25775154-25775349	GM12878	blood:	n/a	n/a
7	BCL11A	chr20:25737731-25737913	GM12878	blood:	n/a	n/a
8	BCL11A	chr20:25846694-25846979	GM12878	blood:	n/a	n/a
9	BCL11A	chr20:25756665-25756856	GM12878	blood:	n/a	n/a
10	BCL11A	chr20:25846720-25846953	GM12878	blood:	n/a	n/a
11	BCL11A	chr20:25806118-25806338	GM12878	blood:	n/a	n/a
12	BCL11A	chr20:25843000-25843149	GM12878	blood:	n/a	n/a
13	BHLHE40	chr20:25834600-25834731	K562	blood:	n/a	n/a
14	BHLHE40	chr20:25838692-25838875	K562	blood:	n/a	n/a
15	BHLHE40	chr20:25848340-25848714	K562	blood:	n/a	n/a
16	BHLHE40	chr20:25840427-25840668	K562	blood:	n/a	n/a
17	BHLHE40	chr20:25844497-25844502	K562	blood:	n/a	n/a
18	BHLHE40	chr20:25843608-25844126	K562	blood:	n/a	n/a
19	BRCA1	chr20:25848499-25848704	HepG2	liver:	n/a	n/a
20	BRCA1	chr20:25834562-25834610	HepG2	liver:	n/a	n/a
21	BRCA1	chr20:25848519-25848534	GM12878	blood:	n/a	n/a
22	CBX3	chr20:25834554-25834916	K562	blood:	n/a	n/a
23	CBX3	chr20:25843839-25844188	K562	blood:	n/a	n/a
24	CCNT2	chr20:25843881-25844128	K562	blood:	n/a	n/a
25	CEBPB	chr20:25846248-25846410	HepG2	liver:	n/a	n/a
26	CEBPB	chr20:25775210-25775358	K562	blood:	n/a	n/a
27	CEBPB	chr20:25844039-25844135	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr20:25741860-25742060	K562	blood:	n/a	chr20:25741983-25741994
29	CEBPB	chr20:25841958-25842158	K562	blood:	n/a	n/a
30	CEBPB	chr20:25863469-25863651	HepG2	liver:	n/a	chr20:25863494-25863507 chr20:25863491-25863508 chr20:25863496-25863507 chr20:25863494-25863507 chr20:25863496-25863507 chr20:25863494-25863505
31	CEBPB	chr20:25843063-25843150	K562	blood:	n/a	n/a
32	CEBPB	chr20:25741823-25742042	HepG2	liver:	n/a	chr20:25741983-25741994
33	CEBPB	chr20:25843000-25843241	K562	blood:	n/a	n/a
34	CEBPB	chr20:25848498-25848709	HepG2	liver:	n/a	n/a
35	CEBPB	chr20:25843604-25843807	K562	blood:	n/a	n/a
36	CEBPB	chr20:25741990-25742017	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr20:25844508-25844516	HepG2	liver:	n/a	n/a
38	CEBPB	chr20:25838694-25838720	K562	blood:	n/a	n/a
39	CEBPB	chr20:25736429-25736642	HepG2	liver:	n/a	chr20:25736503-25736514 chr20:25736533-25736544
40	CEBPB	chr20:25848333-25848714	K562	blood:	n/a	n/a
41	CEBPB	chr20:25775261-25775345	K562	blood:	n/a	n/a
42	CEBPB	chr20:25849580-25849737	HepG2	liver:	n/a	n/a
43	CEBPD	chr20:25834502-25834848	HepG2	liver:	n/a	n/a
44	CHD1	chr20:25741744-25742036	IMR90	lung:	n/a	n/a
45	CHD2	chr20:25848510-25848542	GM12878	blood:	n/a	n/a
46	CHD2	chr20:25834423-25834625	HepG2	liver:	n/a	n/a
47	CHD2	chr20:25834413-25834711	K562	blood:	n/a	n/a
48	CHD2	chr20:25848346-25848713	K562	blood:	n/a	n/a
49	CREB1	chr20:25842055-25842489	A549	lung:	n/a	n/a
50	CTBP2	chr20:25840333-25840793	H1-hESC	embryonic stem cell:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:25848969-25849019	SK-N-SH_RA	brain:	n/a
2	chr20:25846519-25846569	HCPEpiC	choroid plexus:	n/a
3	chr20:25846519-25846569	IMR90	lung:	fetal
4	chr20:25848886-25848936	Hela-S3	cervix:	n/a
5	chr20:25848969-25849019	HEK293	kidney:	embryo
6	chr20:25848969-25849019	HUVEC	blood vessel:	n/a
7	chr20:25834845-25834895	IMR90	lung:	fetal
8	chr20:25834845-25834895	AG04449	skin:	fetal
9	chr20:25834845-25834895	HL-60	blood:	n/a
10	chr20:25848969-25849019	NB4	blood:	n/a
11	chr20:25848886-25848936	PFSK-1	brain:	n/a
12	chr20:25848886-25848936	BE2_C	brain:	n/a
13	chr20:25834845-25834895	NB4	blood:	n/a
14	chr20:25848886-25848936	GM12891	blood:	n/a
15	chr20:25834845-25834895	HepG2	liver:	n/a
16	chr20:25755634-25755684	NB4	blood:	n/a
17	chr20:25848969-25849019	HNPCEpiC	eye:	n/a
18	chr20:25848969-25849019	ProgFib	skin:	n/a
19	chr20:25755634-25755684	HRPEpiC	eye:	n/a
20	chr20:25846519-25846569	HNPCEpiC	eye:	n/a
21	chr20:25834845-25834895	GM12878	blood:	n/a
22	chr20:25755634-25755684	SAEC	small airway:	n/a
23	chr20:25848969-25849019	HCPEpiC	choroid plexus:	n/a
24	chr20:25755634-25755684	MCF-7	breast:	n/a
25	chr20:25834845-25834895	CMK	blood:	n/a
26	chr20:25846519-25846569	NT2-D1	testis:	n/a
27	chr20:25848886-25848936	AG09319	gingival:	n/a
28	chr20:25846519-25846569	GM12892	blood:	n/a
29	chr20:25846519-25846569	SKMC	muscle:	n/a
30	chr20:25848886-25848936	NH-A	brain:	n/a
31	chr20:25848969-25849019	HIPEpiC	eye:	n/a
32	chr20:25846519-25846569	BE2_C	brain:	n/a
33	chr20:25848969-25849019	AoSMC	blood vessel:	n/a
34	chr20:25848969-25849019	HRCEpiC	kidney:	n/a
35	chr20:25846519-25846569	ProgFib	skin:	n/a
36	chr20:25848969-25849019	HCF	heart:	n/a
37	chr20:25846519-25846569	Hela-S3	cervix:	n/a
38	chr20:25755634-25755684	BJ	skin:	n/a
39	chr20:25846519-25846569	AG10803	skin:	n/a
40	chr20:25848886-25848936	NB4	blood:	n/a
41	chr20:25834845-25834895	HCPEpiC	choroid plexus:	n/a
42	chr20:25834845-25834895	NH-A	brain:	n/a
43	chr20:25834845-25834895	MCF-7	breast:	n/a
44	chr20:25848886-25848936	Hepatocyte	liver:	n/a
45	chr20:25834845-25834895	AoSMC	blood vessel:	n/a
46	chr20:25848886-25848936	HPAEpiC	pulmonary alveolar:	n/a
47	chr20:25755634-25755684	HepG2	liver:	n/a
48	chr20:25848969-25849019	GM19239	blood:	n/a
49	chr20:25848969-25849019	SK-N-MC	brain:	n/a
50	chr20:25846519-25846569	NHDF-neo	bronchial:	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:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF337-3	chr20:25816621-25816715	NONHSAT079192
2	lnc-ZNF337-3	chr20:25817342-25817468	NONHSAT079192
3	lnc-FAM182B-8	chr20:25781456-25781927	NONHSAT079187
4	lnc-FAM182B-8	chr20:25767381-25767624	NONHSAT079187
5	lnc-FAM182A-9	chr20:25795622-25796315	NONHSAT079191
6	lnc-FAM182A-9	chr20:25792905-25793903	NONHSAT079191
7	lnc-FAM182B-8	chr20:25754652-25754795	NONHSAT147160
8	lnc-FAM182B-8	chr20:25755746-25755908	NONHSAT147160
9	lnc-FAM182B-8	chr20:25755746-25755948	NONHSAT079187
10	lnc-GINS1-2	chr20:25733199-25733422	NONHSAT079183
11	lnc-GINS1-2	chr20:25733199-25733397	ENSG00000226465.1
12	lnc-FAM182B-8	chr20:25750234-25754795	NONHSAT079187
13	lnc-GINS1-2	chr20:25733199-25733422	NONHSAT079184

No data

Variant related genes	Relation type
FAM182B	TF binding region
ENSG00000250090	TF binding region
FAM182B	CpG island
ENSG00000250090	CpG island
ENSG00000170191	chromatin interactions
ENSG00000213742	chromatin interactions

Extended variants
information (count: 3641 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:3641 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6050868	chr20:25732709-25732710	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs567807995	chr20:25732710-25732711	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs188294842	chr20:25732733-25732734	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs553604974	chr20:25732748-25732749	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs114723000	chr20:25732801-25732802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs66813885	chr20:25732808-25732809	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs559036577	chr20:25732827-25732828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577875534	chr20:25732861-25732862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141038321	chr20:25732913-25732914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34160875	chr20:25732914-25732915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34207203	chr20:25732923-25732924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs397689028	chr20:25732942-25732943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201740137	chr20:25732943-25732944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150246323	chr20:25732954-25732955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575797191	chr20:25732967-25732968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116139434	chr20:25733035-25733036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs16988024	chr20:25733062-25733063	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs529869134	chr20:25733064-25733065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112119560	chr20:25733111-25733112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369618056	chr20:25733129-25733130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540069230	chr20:25733134-25733135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569972802	chr20:25733158-25733159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372361495	chr20:25733169-25733170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537317330	chr20:25733199-25733200	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs376015644	chr20:25733200-25733201	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs568553593	chr20:25733201-25733202	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs202037667	chr20:25733234-25733235	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs370033817	chr20:25733244-25733245	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs192575089	chr20:25733245-25733246	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs77537367	chr20:25733278-25733279	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs75834297	chr20:25733297-25733298	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs79064364	chr20:25733312-25733313	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs547836393	chr20:25733320-25733321	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs76343803	chr20:25733331-25733332	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs79640338	chr20:25733334-25733335	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs6076386	chr20:25733361-25733362	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs568087262	chr20:25733363-25733364	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs536823369	chr20:25733373-25733374	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs546914785	chr20:25733377-25733378	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs372865247	chr20:25733400-25733401	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs567147683	chr20:25733402-25733403	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs539379201	chr20:25733404-25733405	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs73904661	chr20:25733418-25733419	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs199659766	chr20:25733432-25733433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200589594	chr20:25733440-25733441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575661371	chr20:25733463-25733464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374220261	chr20:25733466-25733467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6083937	chr20:25733487-25733488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368666794	chr20:25733508-25733509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369025038	chr20:25733518-25733519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2011 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25731200-25732800	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr20:25731200-25732800	Enhancers	Spleen	Spleen
3	chr20:25732000-25732800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr20:25732200-25732800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr20:25732200-25732800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr20:25732200-25732800	Enhancers	Esophagus	oesophagus
7	chr20:25732200-25732800	Enhancers	Lung	lung
8	chr20:25732200-25736400	Weak transcription	Brain Angular Gyrus	brain
9	chr20:25732200-25737800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr20:25732400-25732800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr20:25732400-25732800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr20:25732400-25732800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr20:25732400-25732800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr20:25732400-25732800	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr20:25732400-25732800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr20:25732400-25732800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr20:25732400-25732800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr20:25732400-25732800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr20:25732400-25732800	Enhancers	Fetal Brain Female	brain
20	chr20:25732400-25732800	Enhancers	Pancreas	Pancrea
21	chr20:25732400-25732800	Enhancers	Right Ventricle	heart
22	chr20:25732400-25733000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr20:25732400-25737800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr20:25732600-25732800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr20:25732600-25732800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr20:25732600-25732800	Enhancers	Adipose Nuclei	Adipose
27	chr20:25732600-25732800	Active TSS	Fetal Lung	lung
28	chr20:25732600-25732800	Flanking Active TSS	HepG2	liver
29	chr20:25732600-25733000	Enhancers	Fetal Brain Male	brain
30	chr20:25732600-25737800	Weak transcription	Thymus	Thymus
31	chr20:25732800-25733200	Enhancers	HepG2	liver
32	chr20:25737400-25737800	Weak transcription	Adipose Nuclei	Adipose
33	chr20:25737800-25738000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr20:25737800-25738000	Bivalent/Poised TSS	Gastric	stomach
35	chr20:25737800-25738000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
36	chr20:25737800-25738000	ZNF genes & repeats	Thymus	Thymus
37	chr20:25737800-25738200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr20:25737800-25738200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr20:25737800-25738200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
40	chr20:25738000-25738200	Flanking Bivalent TSS/Enh	Gastric	stomach
41	chr20:25738400-25739800	Weak transcription	Gastric	stomach
42	chr20:25739400-25739600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr20:25740000-25740400	ZNF genes & repeats	Pancreas	Pancrea
44	chr20:25740200-25740400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
45	chr20:25740200-25740400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
46	chr20:25740200-25740400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
47	chr20:25740200-25740400	ZNF genes & repeats	Gastric	stomach
48	chr20:25740200-25742000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr20:25741200-25742000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
50	chr20:25741600-25741800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell

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