Variant report

Variant	nsv964382
Chromosome Location	chr20:23856148-23862860
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	ARID3A	chr20:23860701-23861025	HepG2	liver:	n/a	n/a
2	BHLHE40	chr20:23860610-23860881	HepG2	liver:	n/a	n/a
3	CEBPB	chr20:23860682-23861020	HepG2	liver:	n/a	chr20:23860869-23860880
4	CHD2	chr20:23860687-23860957	HepG2	liver:	n/a	n/a
5	CTCF	chr20:23858420-23858570	RPTEC	kidney:	n/a	n/a
6	CTCF	chr20:23859300-23859450	HepG2	liver:	n/a	n/a
7	CTCF	chr20:23858240-23858390	GM12873	blood:	n/a	n/a
8	CTCF	chr20:23856558-23856596	Spleen_OC	spleen:	n/a	n/a
9	CTCF	chr20:23858280-23858430	GM12875	blood:	n/a	chr20:23858391-23858409
10	CTCF	chr20:23858320-23858470	A549	lung:	n/a	chr20:23858391-23858409
11	CTCF	chr20:23862680-23862830	HepG2	liver:	n/a	n/a
12	CTCF	chr20:23858320-23858470	WERI-Rb-1	eye:	n/a	chr20:23858391-23858409
13	CTCF	chr20:23858380-23858530	HBMEC	blood vessel:	n/a	chr20:23858391-23858409
14	CTCF	chr20:23858339-23858451	MCF-7	breast:	n/a	chr20:23858391-23858409
15	CTCF	chr20:23858386-23858397	MCF-7	breast:	n/a	n/a
16	CTCF	chr20:23858300-23858450	Caco-2	colon:	n/a	chr20:23858391-23858409
17	CTCF	chr20:23856560-23856710	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr20:23858340-23858490	MCF-7	breast:	n/a	chr20:23858391-23858409
19	CTCF	chr20:23858260-23858410	HepG2	liver:	n/a	chr20:23858391-23858409
20	CTCF	chr20:23860280-23860430	WERI-Rb-1	eye:	n/a	chr20:23860361-23860374
21	CTCF	chr20:23858040-23858190	GM12864	blood:	n/a	n/a
22	CTCF	chr20:23858308-23858436	MCF-7	breast:	n/a	chr20:23858391-23858409
23	CTCF	chr20:23858320-23858470	HEK293	kidney:	n/a	chr20:23858391-23858409
24	CTCF	chr20:23858345-23858446	MCF-7	breast:	n/a	chr20:23858391-23858409
25	CTCF	chr20:23857980-23858130	HEK293	kidney:	n/a	n/a
26	CTCF	chr20:23858400-23858550	GM12869	blood:	n/a	n/a
27	CTCF	chr20:23858260-23858410	WERI-Rb-1	eye:	n/a	chr20:23858391-23858409
28	CTCF	chr20:23858998-23859025	NHEK	skin:	n/a	n/a
29	CTCF	chr20:23858329-23858457	H1-hESC	embryonic stem cell:	n/a	chr20:23858391-23858409
30	CTCF	chr20:23858300-23858450	GM12874	blood:	n/a	chr20:23858391-23858409
31	CTCF	chr20:23858360-23858510	MCF-7	breast:	n/a	chr20:23858391-23858409
32	CTCF	chr20:23858520-23858670	GM12873	blood:	n/a	n/a
33	CTCF	chr20:23858400-23858550	HEK293	kidney:	n/a	n/a
34	CTCF	chr20:23860040-23860190	HepG2	liver:	n/a	n/a
35	CTCF	chr20:23858260-23858410	SAEC	small airway:	n/a	chr20:23858391-23858409
36	EP300	chr20:23860535-23861109	HepG2	liver:	n/a	chr20:23860802-23860818
37	EP300	chr20:23860624-23860947	HepG2	liver:	n/a	chr20:23860802-23860818
38	EP300	chr20:23860663-23861059	HepG2	liver:	n/a	chr20:23860802-23860818
39	FOXA1	chr20:23860557-23861159	HepG2	liver:	n/a	chr20:23860939-23860951
40	FOXA1	chr20:23860581-23861097	HepG2	liver:	n/a	chr20:23860939-23860951
41	FOXA1	chr20:23860464-23861136	HepG2	liver:	n/a	chr20:23860939-23860951
42	FOXA1	chr20:23860523-23861064	HepG2	liver:	n/a	chr20:23860939-23860951
43	FOXA2	chr20:23860357-23861241	HepG2	liver:	n/a	chr20:23860939-23860951
44	FOXA2	chr20:23860547-23861067	HepG2	liver:	n/a	chr20:23860939-23860951
45	HDAC2	chr20:23860586-23860910	HepG2	liver:	n/a	n/a
46	HDAC2	chr20:23860662-23861054	HepG2	liver:	n/a	n/a
47	HNF4A	chr20:23860609-23861051	HepG2	liver:	n/a	chr20:23860896-23860909 chr20:23860894-23860909 chr20:23860897-23860909
48	HNF4A	chr20:23860621-23861032	HepG2	liver:	n/a	chr20:23860896-23860909 chr20:23860894-23860909 chr20:23860897-23860909
49	HNF4G	chr20:23860666-23861091	HepG2	liver:	n/a	chr20:23860896-23860909 chr20:23860897-23860909
50	HNF4G	chr20:23860723-23861019	HepG2	liver:	n/a	chr20:23860896-23860909 chr20:23860897-23860909

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:23861239-23861289	GM06990	blood:	n/a
2	chr20:23861280-23861330	SK-N-SH_RA	brain:	n/a
3	chr20:23861280-23861330	A549	lung:	n/a
4	chr20:23860242-23860292	NH-A	brain:	n/a
5	chr20:23860078-23860128	HRCEpiC	kidney:	n/a
6	chr20:23861280-23861330	NHBE	bronchial:	n/a
7	chr20:23860242-23860292	IMR90	lung:	fetal
8	chr20:23861239-23861289	HRPEpiC	eye:	n/a
9	chr20:23861239-23861289	HUVEC	blood vessel:	n/a
10	chr20:23860078-23860128	HAEpiC	amniotic membrane:	n/a
11	chr20:23861239-23861289	SK-N-MC	brain:	n/a
12	chr20:23861280-23861330	IMR90	lung:	fetal
13	chr20:23860078-23860128	HMEC	breast:	n/a
14	chr20:23860242-23860292	HL-60	blood:	n/a
15	chr20:23860242-23860292	A549	lung:	n/a
16	chr20:23860078-23860128	HPAEpiC	pulmonary alveolar:	n/a
17	chr20:23861239-23861289	AG09309	skin:	n/a
18	chr20:23861280-23861330	HepG2	liver:	n/a
19	chr20:23860078-23860128	Hepatocyte	liver:	n/a
20	chr20:23861280-23861330	HEK293	kidney:	embryo
21	chr20:23861280-23861330	AoSMC	blood vessel:	n/a
22	chr20:23861280-23861330	SKMC	muscle:	n/a
23	chr20:23860078-23860128	GM12891	blood:	n/a
24	chr20:23860242-23860292	HCF	heart:	n/a
25	chr20:23861280-23861330	HPAEpiC	pulmonary alveolar:	n/a
26	chr20:23860078-23860128	PrEC	prostate:	n/a
27	chr20:23861239-23861289	AG09319	gingival:	n/a
28	chr20:23860078-23860128	HIPEpiC	eye:	n/a
29	chr20:23860242-23860292	HRPEpiC	eye:	n/a
30	chr20:23860242-23860292	GM06990	blood:	n/a
31	chr20:23860242-23860292	PFSK-1	brain:	n/a
32	chr20:23860078-23860128	HRPEpiC	eye:	n/a
33	chr20:23861280-23861330	MCF10A-Er-Src	breast:	n/a
34	chr20:23861280-23861330	HUVEC	blood vessel:	n/a
35	chr20:23860078-23860128	GM19239	blood:	n/a
36	chr20:23861239-23861289	K562	blood:	n/a
37	chr20:23860242-23860292	HRE	kidney:	n/a
38	chr20:23861280-23861330	SK-N-MC	brain:	n/a
39	chr20:23861239-23861289	NHBE	bronchial:	n/a
40	chr20:23861239-23861289	BE2_C	brain:	n/a
41	chr20:23860078-23860128	SKMC	muscle:	n/a
42	chr20:23860078-23860128	HRE	kidney:	n/a
43	chr20:23860242-23860292	HUVEC	blood vessel:	n/a
44	chr20:23860242-23860292	Hela-S3	cervix:	n/a
45	chr20:23861280-23861330	AG09319	gingival:	n/a
46	chr20:23861280-23861330	HCF	heart:	n/a
47	chr20:23860242-23860292	CMK	blood:	n/a
48	chr20:23860078-23860128	HepG2	liver:	n/a
49	chr20:23860078-23860128	HCM	heart:	n/a
50	chr20:23860242-23860292	AG09309	skin:	n/a

Variant related genes	Relation type
CST5	TF binding region
CST5	CpG island

Extended variants
information (count: 395 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:395 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113912147	chr20:23856176-23856177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550558429	chr20:23856195-23856196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574044717	chr20:23856205-23856206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192623144	chr20:23856226-23856227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542150720	chr20:23856239-23856240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562394875	chr20:23856249-23856250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561936780	chr20:23856265-23856266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75018625	chr20:23856272-23856273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78001899	chr20:23856273-23856274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76968158	chr20:23856274-23856275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149188932	chr20:23856292-23856293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373807534	chr20:23856322-23856323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6049201	chr20:23856378-23856379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551301729	chr20:23856386-23856387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564236461	chr20:23856445-23856446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532881942	chr20:23856451-23856452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549405667	chr20:23856473-23856474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201950445	chr20:23856508-23856509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562953820	chr20:23856527-23856528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528811528	chr20:23856533-23856534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549285474	chr20:23856549-23856550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117440485	chr20:23856551-23856552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375383971	chr20:23856569-23856570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535254884	chr20:23856574-23856575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551680830	chr20:23856602-23856603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564973350	chr20:23856646-23856647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532052611	chr20:23856647-23856648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571756149	chr20:23856651-23856652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs4813509	chr20:23856663-23856664	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs557446943	chr20:23856706-23856707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527503200	chr20:23856719-23856720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113476538	chr20:23856720-23856721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143411516	chr20:23856744-23856745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184494847	chr20:23856753-23856754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372937441	chr20:23856776-23856777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138639807	chr20:23856829-23856830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141858159	chr20:23856833-23856834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146272783	chr20:23856835-23856836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201737711	chr20:23856836-23856837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541266751	chr20:23856837-23856838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs137939967	chr20:23856841-23856842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149451063	chr20:23856853-23856854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577725854	chr20:23856878-23856879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200427729	chr20:23856889-23856890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs202039216	chr20:23856898-23856899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148371132	chr20:23856900-23856901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs202236710	chr20:23856942-23856943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372319805	chr20:23856966-23856967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548552256	chr20:23856969-23856970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs180813817	chr20:23856988-23856989	Weak transcription Enhancers	n/a	n/a	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
small cell lung cancer	17426248	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23848800-23860400	Enhancers	Fetal Thymus	thymus
2	chr20:23851400-23859400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:23852400-23864800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr20:23852800-23858200	Enhancers	Dnd41	blood
5	chr20:23853400-23856800	Enhancers	Thymus	Thymus
6	chr20:23854600-23858200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr20:23854800-23860600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr20:23855200-23857600	Enhancers	Stomach Smooth Muscle	stomach
9	chr20:23855400-23858000	Weak transcription	Spleen	Spleen
10	chr20:23855400-23858200	Enhancers	Fetal Stomach	stomach
11	chr20:23855600-23856600	Enhancers	Fetal Muscle Trunk	muscle
12	chr20:23855600-23856800	Enhancers	Rectal Smooth Muscle	rectum
13	chr20:23855800-23857400	Enhancers	Colon Smooth Muscle	Colon
14	chr20:23856800-23857800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr20:23857400-23860600	Weak transcription	Colon Smooth Muscle	Colon
16	chr20:23857600-23858000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr20:23857600-23858200	Weak transcription	Fetal Intestine Large	intestine
18	chr20:23857800-23858000	Enhancers	Rectal Smooth Muscle	rectum
19	chr20:23858000-23858200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr20:23858000-23858200	Flanking Active TSS	Spleen	Spleen
21	chr20:23858000-23858600	Enhancers	Stomach Smooth Muscle	stomach
22	chr20:23858000-23859600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr20:23858200-23858600	Bivalent Enhancer	Fetal Stomach	stomach
24	chr20:23858200-23859600	Enhancers	HMEC	breast
25	chr20:23858200-23862800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr20:23859200-23859400	Enhancers	NHEK	skin
27	chr20:23859200-23859600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr20:23859200-23861800	Enhancers	Lung	lung
29	chr20:23859400-23859600	Bivalent Enhancer	Fetal Stomach	stomach
30	chr20:23859400-23859600	Flanking Active TSS	Spleen	Spleen
31	chr20:23859400-23860000	Bivalent Enhancer	HepG2	liver
32	chr20:23859400-23860800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr20:23859400-23861400	Enhancers	Placenta Amnion	Placenta Amnion
34	chr20:23859400-23862400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr20:23859600-23860200	Active TSS	Spleen	Spleen
36	chr20:23859600-23860600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr20:23859600-23860600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr20:23859600-23860600	Weak transcription	HMEC	breast
39	chr20:23859800-23861000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr20:23859800-23862400	Enhancers	Pancreas	Pancrea
41	chr20:23860000-23860800	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr20:23860000-23861200	Weak transcription	NHEK	skin
43	chr20:23860000-23861600	Enhancers	Rectal Smooth Muscle	rectum
44	chr20:23860000-23862200	Enhancers	HepG2	liver
45	chr20:23860200-23861600	Enhancers	Fetal Intestine Large	intestine
46	chr20:23860400-23861400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr20:23860600-23861000	Enhancers	Liver	Liver
48	chr20:23860600-23861000	Enhancers	Colon Smooth Muscle	Colon
49	chr20:23860600-23861200	Enhancers	Stomach Smooth Muscle	stomach
50	chr20:23860600-23861400	Enhancers	Fetal Lung	lung

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