Variant report

Variant	nsv900082
Chromosome Location	chr13:52555288-52709938
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2728)
CpG islands
(count:2993)
Chromatin interactive
region (count:114)
LncRNA
region (count:15)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:2728 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:52701870-52702197	HepG2	liver:	n/a	n/a
2	ARID3A	chr13:52701599-52702201	K562	blood:	n/a	n/a
3	ARID3A	chr13:52599427-52600756	HepG2	liver:	n/a	n/a
4	ARID3A	chr13:52572112-52572486	HepG2	liver:	n/a	n/a
5	ARID3A	chr13:52692261-52692519	K562	blood:	n/a	n/a
6	ARID3A	chr13:52645355-52645600	K562	blood:	n/a	n/a
7	ARID3A	chr13:52563190-52563561	HepG2	liver:	n/a	n/a
8	ARID3A	chr13:52703090-52703386	HepG2	liver:	n/a	n/a
9	ARID3A	chr13:52585881-52586790	HepG2	liver:	n/a	n/a
10	ARID3A	chr13:52575376-52575602	K562	blood:	n/a	n/a
11	ARID3A	chr13:52570833-52570979	K562	blood:	n/a	n/a
12	ARID3A	chr13:52572282-52572284	K562	blood:	n/a	n/a
13	ARID3A	chr13:52678813-52679187	HepG2	liver:	n/a	n/a
14	ARID3A	chr13:52573430-52573694	K562	blood:	n/a	n/a
15	ATF1	chr13:52645130-52645616	K562	blood:	n/a	n/a
16	ATF3	chr13:52645090-52645562	K562	blood:	n/a	n/a
17	BACH1	chr13:52565558-52565707	K562	blood:	n/a	n/a
18	BACH1	chr13:52585027-52586557	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr13:52703283-52703494	H1-hESC	embryonic stem cell:	n/a	n/a
20	BATF	chr13:52607231-52607457	GM12878	blood:	n/a	n/a
21	BATF	chr13:52607236-52607469	GM12878	blood:	n/a	n/a
22	BCL3	chr13:52648878-52649106	GM12878	blood:	n/a	n/a
23	BHLHE40	chr13:52701862-52702479	K562	blood:	n/a	n/a
24	BHLHE40	chr13:52572183-52572510	HepG2	liver:	n/a	n/a
25	BHLHE40	chr13:52701899-52702501	GM12878	blood:	n/a	n/a
26	BHLHE40	chr13:52571930-52572392	K562	blood:	n/a	n/a
27	BHLHE40	chr13:52585400-52586712	K562	blood:	n/a	n/a
28	BHLHE40	chr13:52645039-52645220	K562	blood:	n/a	n/a
29	BHLHE40	chr13:52585796-52586552	HepG2	liver:	n/a	n/a
30	BHLHE40	chr13:52703185-52703444	K562	blood:	n/a	n/a
31	BHLHE40	chr13:52569873-52571048	K562	blood:	n/a	n/a
32	BHLHE40	chr13:52599705-52600363	HepG2	liver:	n/a	n/a
33	BHLHE40	chr13:52575263-52575546	K562	blood:	n/a	n/a
34	BHLHE40	chr13:52585844-52586746	GM12878	blood:	n/a	n/a
35	BHLHE40	chr13:52573093-52573293	K562	blood:	n/a	n/a
36	BRCA1	chr13:52586275-52586767	GM12878	blood:	n/a	n/a
37	BRCA1	chr13:52703224-52703419	H1-hESC	embryonic stem cell:	n/a	n/a
38	BRCA1	chr13:52703151-52703255	HepG2	liver:	n/a	n/a
39	BRCA1	chr13:52585470-52586243	HepG2	liver:	n/a	n/a
40	BRCA1	chr13:52701897-52702538	H1-hESC	embryonic stem cell:	n/a	n/a
41	BRCA1	chr13:52586472-52586613	HepG2	liver:	n/a	n/a
42	BRCA1	chr13:52586254-52586658	Hela-S3	cervix:	n/a	n/a
43	CBX3	chr13:52635128-52635374	K562	blood:	n/a	n/a
44	CBX3	chr13:52641256-52641836	K562	blood:	n/a	n/a
45	CBX3	chr13:52585739-52586148	K562	blood:	n/a	n/a
46	CBX3	chr13:52701679-52702219	K562	blood:	n/a	n/a
47	CBX3	chr13:52641249-52641668	HCT-116	colon:	n/a	n/a
48	CBX3	chr13:52645430-52645698	K562	blood:	n/a	n/a
49	CBX3	chr13:52641295-52641735	K562	blood:	n/a	n/a
50	CBX3	chr13:52644974-52645721	K562	blood:	n/a	n/a

(count:2993 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:52701588-52701638	SAEC	small airway:	n/a
2	chr13:52586135-52586185	NHBE	bronchial:	n/a
3	chr13:52637399-52637449	HL-60	blood:	n/a
4	chr13:52703373-52703423	NH-A	brain:	n/a
5	chr13:52701588-52701638	SAEC	small airway:	n/a
6	chr13:52586135-52586185	NHBE	bronchial:	n/a
7	chr13:52637399-52637449	HL-60	blood:	n/a
8	chr13:52703373-52703423	NH-A	brain:	n/a
9	chr13:52637399-52637449	AG04449	skin:	fetal
10	chr13:52703935-52703985	AG09309	skin:	n/a
11	chr13:52703417-52703467	H1-hESC	embryonic stem cell:	embryo
12	chr13:52586367-52586417	AG09309	skin:	n/a
13	chr13:52702431-52702481	HIPEpiC	eye:	n/a
14	chr13:52703417-52703467	PANC-1	pancreas:	n/a
15	chr13:52701033-52701083	NHBE	bronchial:	n/a
16	chr13:52585650-52585700	GM12878	blood:	n/a
17	chr13:52585283-52585333	MCF10A-Er-Src	breast:	n/a
18	chr13:52586563-52586613	PANC-1	pancreas:	n/a
19	chr13:52702845-52702895	Jurkat	blood:	n/a
20	chr13:52707138-52707188	GM12892	blood:	n/a
21	chr13:52598902-52598952	CMK	blood:	n/a
22	chr13:52707138-52707188	NHBE	bronchial:	n/a
23	chr13:52703328-52703378	HMEC	breast:	n/a
24	chr13:52585283-52585333	NHDF-neo	bronchial:	n/a
25	chr13:52702460-52702510	Hela-S3	cervix:	n/a
26	chr13:52702856-52702906	RPTEC	kidney:	n/a
27	chr13:52586135-52586185	GM06990	blood:	n/a
28	chr13:52585761-52585811	HCPEpiC	choroid plexus:	n/a
29	chr13:52707138-52707188	AG10803	skin:	n/a
30	chr13:52703935-52703985	PrEC	prostate:	n/a
31	chr13:52702856-52702906	HRPEpiC	eye:	n/a
32	chr13:52702431-52702481	HepG2	liver:	n/a
33	chr13:52707286-52707336	PFSK-1	brain:	n/a
34	chr13:52701588-52701638	ProgFib	skin:	n/a
35	chr13:52703615-52703665	HPAEpiC	pulmonary alveolar:	n/a
36	chr13:52703348-52703398	HRE	kidney:	n/a
37	chr13:52585632-52585682	SK-N-SH_RA	brain:	n/a
38	chr13:52585597-52585647	Hepatocyte	liver:	n/a
39	chr13:52699305-52699355	HCF	heart:	n/a
40	chr13:52586451-52586501	Hepatocyte	liver:	n/a
41	chr13:52707286-52707336	NHBE	bronchial:	n/a
42	chr13:52585813-52585863	HIPEpiC	eye:	n/a
43	chr13:52703362-52703412	GM12878	blood:	n/a
44	chr13:52585315-52585365	HCM	heart:	n/a
45	chr13:52585650-52585700	CMK	blood:	n/a
46	chr13:52601031-52601081	ECC-1	luminal epithelium:	n/a
47	chr13:52607339-52607389	SKMC	muscle:	n/a
48	chr13:52585597-52585647	CMK	blood:	n/a
49	chr13:52639120-52639170	GM12878	blood:	n/a
50	chr13:52639120-52639170	HCM	heart:	n/a

(count:114 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr13:52564916..52570042-chr13:52571727..52575592,5	MCF-7	breast:
2	chr13:52578707..52580280-chr13:52581287..52584072,2	MCF-7	breast:
3	chr13:52699126..52701652-chr13:52702989..52705135,2	K562	blood:
4	chr13:52550522..52553056-chr13:52572837..52575567,2	MCF-7	breast:
5	chr13:52158220..52159886-chr13:52585603..52588411,2	K562	blood:
6	chr13:52584551..52590049-chr13:52591418..52597330,6	K562	blood:
7	chr13:52693297..52694930-chr13:52700506..52703282,2	MCF-7	breast:
8	chr13:52687652..52690053-chr13:52690967..52693766,2	K562	blood:
9	chr13:52469831..52471115-chr13:52701846..52702769,5	MCF-7	breast:
10	chr13:52564916..52570042-chr13:52571727..52575592,5	MCF-7	breast:
11	chr13:52600061..52602835-chr13:52607989..52610209,4	K562	blood:
12	chr13:52584477..52586943-chr13:52701489..52703372,3	K562	blood:
13	chr13:52618736..52621348-chr13:52625262..52627911,2	K562	blood:
14	chr13:52682568..52684344-chr13:52687301..52689762,2	K562	blood:
15	chr13:52683996..52685764-chr13:52687463..52689189,2	K562	blood:
16	chr13:52585128..52587578-chr13:52611311..52612916,2	MCF-7	breast:
17	chr13:52687652..52690053-chr13:52690967..52693766,2	K562	blood:
18	chr13:52680463..52681985-chr13:52686130..52688988,2	K562	blood:
19	chr13:52532889..52534545-chr13:52566217..52568860,2	MCF-7	breast:
20	chr13:52592255..52594860-chr13:52597501..52600884,3	K562	blood:
21	chr13:52025774..52028487-chr13:52584807..52587141,2	K562	blood:
22	chr13:52598745..52600339-chr13:52607097..52609140,2	MCF-7	breast:
23	chr13:52573284..52575867-chr13:52579600..52581887,2	K562	blood:
24	chr13:52580573..52584111-chr13:52584996..52587718,3	MCF-7	breast:
25	chr13:52598398..52600067-chr13:52607293..52609530,2	K562	blood:
26	chr13:52377335..52378174-chr13:52702786..52703324,2	K562	blood:
27	chr13:52561953..52567975-chr13:52568159..52572243,8	K562	blood:
28	chr13:52549808..52551859-chr13:52553072..52555669,2	K562	blood:
29	chr1:45096767..45097715-chr13:52585858..52586559,2	NB4	blood:
30	chr13:52575215..52575920-chr13:52599748..52600741,2	MCF-7	breast:
31	chr13:52584477..52586900-chr13:52700506..52703372,3	K562	blood:
32	chr13:52555699..52557383-chr13:52562997..52565551,2	MCF-7	breast:
33	chr13:52562562..52567113-chr13:52569338..52572980,4	MCF-7	breast:
34	chr13:52585406..52587915-chr13:52591588..52593688,3	MCF-7	breast:
35	chr13:52675167..52677074-chr13:52681306..52682883,2	K562	blood:
36	chr13:52377181..52379462-chr13:52609884..52612559,2	K562	blood:
37	chr13:52600318..52601043-chr13:52701669..52702499,2	MCF-7	breast:
38	chr13:52578352..52579378-chr13:52701728..52702446,3	MCF-7	breast:
39	chr13:52547595..52550530-chr13:52570344..52571885,2	K562	blood:
40	chr13:52576391..52578184-chr13:52580333..52583322,2	K562	blood:
41	chr13:52572621..52575296-chr13:52579187..52581060,2	K562	blood:
42	chr13:52603093..52604723-chr13:52608557..52611141,2	K562	blood:
43	chr13:52494195..52496775-chr13:52571479..52573811,2	MCF-7	breast:
44	chr13:52585087..52587899-chr13:52598320..52601537,3	MCF-7	breast:
45	chr13:52571069..52573595-chr13:52575661..52577767,2	K562	blood:
46	chr13:52025791..52028523-chr13:52605837..52608349,2	K562	blood:
47	chr13:52388590..52390745-chr13:52574163..52575780,2	MCF-7	breast:
48	chr13:52538417..52541078-chr13:52553924..52556751,2	K562	blood:
49	chr13:52571069..52573595-chr13:52575661..52577767,2	K562	blood:
50	chr13:52566849..52570695-chr13:52572398..52574312,4	K562	blood:

(count:15 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP7B-1	chr13:52623840-52624034	l_852_chr13:52603158-52624034_testes
2	lnc-UTP14C-1	chr13:52703031-52706193	NR_110306
3	lnc-ATP7B-1	chr13:52620393-52620510	l_852_chr13:52603158-52624034_testes
4	lnc-UTP14C-1	chr13:52706594-52706859	NONHSAT033962
5	lnc-ATP7B-1	chr13:52609346-52609481	l_852_chr13:52603158-52624034_testes
6	lnc-ATP7B-1	chr13:52619003-52619038	l_852_chr13:52603158-52624034_testes
7	lnc-ATP7B-1	chr13:52620393-52620500	NONHSAT033961
8	lnc-ATP7B-1	chr13:52623840-52623944	NONHSAT033961
9	lnc-NEK5-2	chr13:52571541-52571827	l_851_chr13:52571540-52583296_testes
10	lnc-UTP14C-1	chr13:52706594-52706859	NR_110306
11	lnc-UTP14C-1	chr13:52703027-52706193	NONHSAT033962
12	lnc-ATP7B-1	chr13:52618675-52619038	NONHSAT033961
13	lnc-NEK5-2	chr13:52582997-52583296	l_851_chr13:52571540-52583296_testes
14	lnc-NEK5-2	chr13:52574442-52574608	l_851_chr13:52571540-52583296_testes
15	lnc-ATP7B-1	chr13:52603159-52603957	l_852_chr13:52603158-52624034_testes

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	NEK3	hsa-miR-98-5p	chr13:52706911-52706932
2	NEK3	hsa-miR-98-5p	chr13:52706917-52706910

Variant related genes	Relation type
UTP14C	TF binding region
NEK5	TF binding region
ALG11	TF binding region
NEK3	TF binding region
ATP7B	TF binding region
UTP14C	CpG island
NEK5	CpG island
ALG11	CpG island
NEK3	CpG island
ATP7B	CpG island
ENSG00000123191	chromatin interactions
ENSG00000187147	chromatin interactions
ENSG00000139668	chromatin interactions
ENSG00000243406	chromatin interactions
ENSG00000102786	chromatin interactions
ENSG00000231856	chromatin interactions
ENSG00000224892	chromatin interactions
ENSG00000236778	chromatin interactions
ENSG00000102796	chromatin interactions
ENSG00000253797	chromatin interactions
ENSG00000253710	chromatin interactions
ENSG00000236044	chromatin interactions
ENSG00000197168	chromatin interactions

Extended variants
information (count: 4971 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:4971 , 50 per page) page: 1 2 3 4 5 6 7 ... 100

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9526816	chr13:52555288-52555289	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs184378614	chr13:52555295-52555296	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs555463908	chr13:52555303-52555304	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs373687608	chr13:52555304-52555305	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs575624239	chr13:52555339-52555340	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs540952580	chr13:52555394-52555395	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs73498189	chr13:52555396-52555397	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs145406521	chr13:52555409-52555410	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs574277699	chr13:52555410-52555411	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs191748650	chr13:52555416-52555417	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs563629355	chr13:52555487-52555488	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs4941717	chr13:52555499-52555500	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs528680778	chr13:52555522-52555523	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs75250604	chr13:52555580-52555581	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs28708882	chr13:52555640-52555641	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs375978289	chr13:52555641-52555642	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs564282836	chr13:52555661-52555662	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs559718479	chr13:52555710-52555711	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs184345507	chr13:52555749-52555750	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs548883184	chr13:52555765-52555766	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs574647587	chr13:52555781-52555782	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs117191858	chr13:52555783-52555784	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs147925136	chr13:52555802-52555803	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs188698713	chr13:52555823-52555824	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs569611690	chr13:52555835-52555836	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs538744614	chr13:52555863-52555864	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs542640166	chr13:52555885-52555886	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs181475794	chr13:52555916-52555917	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs185238648	chr13:52555948-52555949	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs554435305	chr13:52555949-52555950	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs79675129	chr13:52556014-52556015	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
32	rs143422591	chr13:52556020-52556021	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs141801607	chr13:52556083-52556084	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs375764605	chr13:52556084-52556085	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs577237365	chr13:52556091-52556092	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs546256782	chr13:52556136-52556137	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs199525189	chr13:52556142-52556143	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs559625192	chr13:52556177-52556178	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs529573927	chr13:52556186-52556187	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs374059544	chr13:52556203-52556204	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs542287175	chr13:52556225-52556226	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs75170539	chr13:52556249-52556250	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
43	rs531239089	chr13:52556272-52556273	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs550862964	chr13:52556316-52556317	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs80341451	chr13:52556404-52556405	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs74380418	chr13:52556440-52556441	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs552237521	chr13:52556485-52556486	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs559062497	chr13:52556525-52556526	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs562320943	chr13:52556527-52556528	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs373817038	chr13:52556561-52556562	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2712 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52494400-52558000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr13:52513400-52555400	Weak transcription	Brain Hippocampus Middle	brain
3	chr13:52516800-52555400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr13:52530200-52555400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr13:52534400-52555400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr13:52544800-52556600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:52545000-52555400	Weak transcription	Adipose Nuclei	Adipose
8	chr13:52545000-52555600	Weak transcription	Aorta	Aorta
9	chr13:52545400-52555400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:52549000-52555400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr13:52549000-52555600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr13:52551600-52555800	Enhancers	Fetal Intestine Small	intestine
13	chr13:52552600-52555800	Enhancers	Stomach Mucosa	stomach
14	chr13:52553000-52555800	Enhancers	Fetal Lung	lung
15	chr13:52553200-52556800	Enhancers	HepG2	liver
16	chr13:52553400-52555400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr13:52553400-52555400	Weak transcription	Left Ventricle	heart
18	chr13:52553400-52555400	Weak transcription	Ovary	ovary
19	chr13:52553400-52555400	Weak transcription	Psoas Muscle	Psoas
20	chr13:52553400-52555400	Weak transcription	Right Atrium	heart
21	chr13:52553400-52556800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr13:52553400-52556800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr13:52553400-52569400	Weak transcription	Pancreas	Pancrea
24	chr13:52553600-52555800	Enhancers	K562	blood
25	chr13:52554200-52556400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr13:52554400-52555400	Weak transcription	Fetal Intestine Large	intestine
27	chr13:52554600-52555600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr13:52554800-52556000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr13:52554800-52556000	Flanking Active TSS	Fetal Heart	heart
30	chr13:52554800-52556400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr13:52555000-52555400	Active TSS	Right Ventricle	heart
32	chr13:52555000-52555400	Active TSS	HSMMtube	muscle
33	chr13:52555000-52555400	Enhancers	Osteobl	bone
34	chr13:52555000-52555800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr13:52555200-52555800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr13:52555200-52556200	Enhancers	Placenta	Placenta
37	chr13:52555400-52555600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr13:52555400-52555600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr13:52555400-52555600	Enhancers	Brain Hippocampus Middle	brain
40	chr13:52555400-52555600	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr13:52555400-52555600	Flanking Active TSS	HSMMtube	muscle
42	chr13:52555400-52555800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr13:52555400-52555800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr13:52555400-52555800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr13:52555400-52555800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr13:52555400-52555800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr13:52555400-52555800	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr13:52555400-52555800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr13:52555400-52555800	Enhancers	Fetal Intestine Large	intestine
50	chr13:52555400-52555800	Enhancers	Left Ventricle	heart

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