Variant report

Variant	nsv912944
Chromosome Location	chr20:52681759-52693614
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:388)
CpG islands
(count:427)
Chromatin interactive
region (count:76)
LncRNA
region (count:0)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:52683823-52684558	HepG2	liver:	n/a	n/a
2	ARID3A	chr20:52682222-52682596	K562	blood:	n/a	n/a
3	ARID3A	chr20:52686806-52687301	HepG2	liver:	n/a	n/a
4	ATF1	chr20:52682154-52682556	K562	blood:	n/a	n/a
5	ATF3	chr20:52683947-52684750	A549	lung:	n/a	n/a
6	ATF3	chr20:52684073-52684687	A549	lung:	n/a	n/a
7	BATF	chr20:52689530-52689748	GM12878	blood:	n/a	n/a
8	BATF	chr20:52684107-52684494	GM12878	blood:	n/a	chr20:52684257-52684265
9	BATF	chr20:52684188-52684426	GM12878	blood:	n/a	chr20:52684257-52684265
10	BCL3	chr20:52683878-52684754	A549	lung:	n/a	n/a
11	BCL3	chr20:52684032-52684751	A549	lung:	n/a	n/a
12	BHLHE40	chr20:52681921-52682597	K562	blood:	n/a	n/a
13	BHLHE40	chr20:52684148-52684627	HepG2	liver:	n/a	n/a
14	BRCA1	chr20:52686728-52686974	HepG2	liver:	n/a	n/a
15	BRCA1	chr20:52684322-52684471	HepG2	liver:	n/a	n/a
16	BRCA1	chr20:52684039-52684672	Hela-S3	cervix:	n/a	n/a
17	CBX3	chr20:52683997-52684770	HCT-116	colon:	n/a	n/a
18	CBX3	chr20:52682226-52682598	K562	blood:	n/a	n/a
19	CBX3	chr20:52682063-52682605	K562	blood:	n/a	n/a
20	CCNT2	chr20:52682120-52682619	K562	blood:	n/a	chr20:52682440-52682460
21	CEBPB	chr20:52682158-52682566	K562	blood:	n/a	n/a
22	CEBPB	chr20:52682049-52682578	K562	blood:	n/a	n/a
23	CEBPB	chr20:52684171-52684490	A549	lung:	n/a	n/a
24	CEBPB	chr20:52683964-52684941	A549	lung:	n/a	n/a
25	CEBPB	chr20:52684171-52684522	HepG2	liver:	n/a	n/a
26	CEBPB	chr20:52683921-52684823	HCT-116	colon:	n/a	n/a
27	CEBPB	chr20:52684060-52684576	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr20:52684129-52684584	A549	lung:	n/a	n/a
29	CEBPB	chr20:52684238-52684470	HepG2	liver:	n/a	n/a
30	CEBPD	chr20:52682116-52682652	K562	blood:	n/a	n/a
31	CEBPD	chr20:52681445-52682008	K562	blood:	n/a	n/a
32	CEBPD	chr20:52684125-52684590	HepG2	liver:	n/a	n/a
33	CEBPD	chr20:52682189-52682660	K562	blood:	n/a	n/a
34	CHD2	chr20:52684103-52684614	HepG2	liver:	n/a	n/a
35	CHD2	chr20:52686637-52687140	HepG2	liver:	n/a	n/a
36	CHD2	chr20:52684089-52684613	Hela-S3	cervix:	n/a	n/a
37	CREB1	chr20:52684171-52684577	A549	lung:	n/a	n/a
38	CREB1	chr20:52682073-52682709	K562	blood:	n/a	n/a
39	CREB1	chr20:52684157-52684486	A549	lung:	n/a	n/a
40	CTCF	chr20:52684160-52684310	MCF-7	breast:	n/a	n/a
41	CTCF	chr20:52687080-52687230	MCF-7	breast:	n/a	n/a
42	CTCF	chr20:52684980-52685130	HepG2	liver:	n/a	n/a
43	CTCF	chr20:52689744-52689766	LNCaP	prostate:	n/a	n/a
44	CTCF	chr20:52687080-52687230	HepG2	liver:	n/a	n/a
45	CTCF	chr20:52687040-52687190	Caco-2	colon:	n/a	n/a
46	CTCF	chr20:52689654-52689720	GM10266	blood:	n/a	n/a
47	CTCF	chr20:52686360-52686510	HepG2	liver:	n/a	n/a
48	CUX1	chr20:52681838-52681858	GM12878	blood:	n/a	n/a
49	E2F4	chr20:52684292-52684433	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F4	chr20:52693478-52693493	MCF10A-Er-Src	breast:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:52687394-52687444	SK-N-SH_RA	brain:	n/a
2	chr20:52688256-52688306	HUVEC	blood vessel:	n/a
3	chr20:52687394-52687444	SAEC	small airway:	n/a
4	chr20:52687076-52687126	K562	blood:	n/a
5	chr20:52687007-52687057	PrEC	prostate:	n/a
6	chr20:52687924-52687974	HCPEpiC	choroid plexus:	n/a
7	chr20:52687924-52687974	HCT-116	colon:	n/a
8	chr20:52688256-52688306	GM12878	blood:	n/a
9	chr20:52688256-52688306	HCT-116	colon:	n/a
10	chr20:52687007-52687057	MCF-7	breast:	n/a
11	chr20:52687924-52687974	HL-60	blood:	n/a
12	chr20:52687365-52687415	HUVEC	blood vessel:	n/a
13	chr20:52687365-52687415	NB4	blood:	n/a
14	chr20:52687394-52687444	ProgFib	skin:	n/a
15	chr20:52688256-52688306	SAEC	small airway:	n/a
16	chr20:52687007-52687057	HMEC	breast:	n/a
17	chr20:52687076-52687126	HUVEC	blood vessel:	n/a
18	chr20:52687394-52687444	HRCEpiC	kidney:	n/a
19	chr20:52687394-52687444	HNPCEpiC	eye:	n/a
20	chr20:52688442-52688492	IMR90	lung:	fetal
21	chr20:52687394-52687444	LNCaP	prostate:	n/a
22	chr20:52688256-52688306	GM12891	blood:	n/a
23	chr20:52687924-52687974	HCF	heart:	n/a
24	chr20:52687007-52687057	AoSMC	blood vessel:	n/a
25	chr20:52687394-52687444	NH-A	brain:	n/a
26	chr20:52687076-52687126	HPAEpiC	pulmonary alveolar:	n/a
27	chr20:52687076-52687126	BE2_C	brain:	n/a
28	chr20:52687394-52687444	NB4	blood:	n/a
29	chr20:52687394-52687444	SKMC	muscle:	n/a
30	chr20:52687007-52687057	HNPCEpiC	eye:	n/a
31	chr20:52688442-52688492	HMEC	breast:	n/a
32	chr20:52688256-52688306	HEEpiC	esophagus:	n/a
33	chr20:52687007-52687057	HCF	heart:	n/a
34	chr20:52687394-52687444	PANC-1	pancreas:	n/a
35	chr20:52688442-52688492	SAEC	small airway:	n/a
36	chr20:52687007-52687057	SK-N-SH	brain:	n/a
37	chr20:52687076-52687126	AoSMC	blood vessel:	n/a
38	chr20:52688256-52688306	HNPCEpiC	eye:	n/a
39	chr20:52688256-52688306	HMEC	breast:	n/a
40	chr20:52688442-52688492	U87	brain:	n/a
41	chr20:52688442-52688492	AoSMC	blood vessel:	n/a
42	chr20:52687007-52687057	CMK	blood:	n/a
43	chr20:52687924-52687974	GM12891	blood:	n/a
44	chr20:52687365-52687415	NHDF-neo	bronchial:	n/a
45	chr20:52687076-52687126	NT2-D1	testis:	n/a
46	chr20:52687007-52687057	HIPEpiC	eye:	n/a
47	chr20:52688442-52688492	Hepatocyte	liver:	n/a
48	chr20:52687365-52687415	HCF	heart:	n/a
49	chr20:52687076-52687126	MCF10A-Er-Src	breast:	n/a
50	chr20:52688442-52688492	PFSK-1	brain:	n/a

(count:76 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr17:56735435..56738179-chr20:52680287..52682149,2	MCF-7	breast:
2	chr20:52679231..52682277-chr20:52687139..52688972,3	K562	blood:
3	chr20:46727722..46728389-chr20:52683538..52684323,2	MCF-7	breast:
4	chr17:56707565..56710367-chr20:52679434..52682124,8	MCF-7	breast:
5	chr20:46413800..46415438-chr20:52692671..52695400,2	MCF-7	breast:
6	chr17:56755655..56758495-chr20:52684394..52686862,2	MCF-7	breast:
7	chr20:41006906..41008606-chr20:52682135..52684098,2	MCF-7	breast:
8	chr20:52684180..52684700-chr20:52739750..52740710,2	MCF-7	breast:
9	chr20:51970413..51971367-chr20:52684017..52684578,2	MCF-7	breast:
10	chr13:89446778..89447282-chr20:52691355..52691999,2	MCF-7	breast:
11	chr17:57081118..57083369-chr20:52692245..52694121,2	MCF-7	breast:
12	chr20:52692568..52693371-chr20:52701413..52702202,3	MCF-7	breast:
13	chr20:46413324..46415448-chr20:52682941..52685877,2	MCF-7	breast:
14	chr20:52261605..52264321-chr20:52679495..52681960,2	MCF-7	breast:
15	chr20:52683401..52684222-chr22:24971628..24972158,2	MCF-7	breast:
16	chr20:45946563..45948166-chr20:52686092..52688175,2	MCF-7	breast:
17	chr20:52683823..52684540-chr20:52815286..52816270,2	MCF-7	breast:
18	chr20:52684414..52687124-chr6:151977348..151979114,2	MCF-7	breast:
19	chr11:20042762..20044450-chr20:52683643..52686513,2	MCF-7	breast:
20	chr20:52682759..52688435-chr20:55837866..55842743,7	MCF-7	breast:
21	chr17:56706875..56710932-chr20:52683217..52688645,17	MCF-7	breast:
22	chr14:68717554..68720339-chr20:52691339..52694234,2	MCF-7	breast:
23	chr1:114472848..114474894-chr20:52685682..52687660,2	MCF-7	breast:
24	chr17:56707910..56710399-chr20:52692495..52695417,3	MCF-7	breast:
25	chr20:52681572..52682154-chr7:7496312..7497133,2	MCF-7	breast:
26	chr20:52535496..52537138-chr20:52680677..52682336,2	MCF-7	breast:
27	chr20:46414990..46416847-chr20:52691422..52694318,2	MCF-7	breast:
28	chr20:52556199..52556812-chr20:52683758..52684308,2	MCF-7	breast:
29	chr17:59488630..59491909-chr20:52682988..52685576,3	MCF-7	breast:
30	chr20:52553947..52555886-chr20:52679638..52682394,3	MCF-7	breast:
31	chr20:52685889..52686408-chr3:119539503..119540491,2	MCF-7	breast:
32	chr17:56706894..56712075-chr20:52682647..52687928,11	MCF-7	breast:
33	chr1:149222502..149226607-chr20:52685912..52688117,3	MCF-7	breast:
34	chr20:46130482..46132590-chr20:52685698..52688265,2	MCF-7	breast:
35	chr17:56707956..56710519-chr20:52679502..52682472,2	MCF-7	breast:
36	chr12:56318173..56320627-chr20:52692121..52694111,2	MCF-7	breast:
37	chr17:61042573..61045536-chr20:52690669..52693411,2	MCF-7	breast:
38	chr20:45985585..45987511-chr20:52689631..52691530,2	MCF-7	breast:
39	chr2:26567636..26570065-chr20:52682844..52684382,2	MCF-7	breast:
40	chr17:57920042..57923174-chr20:52680014..52682936,4	MCF-7	breast:
41	chr20:52691602..52694513-chr20:52873450..52876265,2	MCF-7	breast:
42	chr20:52686177..52688177-chr20:52691097..52693282,3	K562	blood:
43	chr17:56768989..56770663-chr20:52691265..52693714,2	MCF-7	breast:
44	chr20:52681034..52683636-chr20:53260094..53262163,2	MCF-7	breast:
45	chr20:52682462..52684179-chr20:52688972..52691776,2	K562	blood:
46	chr20:46412807..46415546-chr20:52683653..52686507,2	MCF-7	breast:
47	chr20:52205396..52212193-chr20:52682424..52689159,12	MCF-7	breast:
48	chr20:52684089..52684879-chr20:52701289..52702251,3	MCF-7	breast:
49	chr17:57918096..57920915-chr20:52692423..52694442,2	MCF-7	breast:
50	chr20:52572107..52575056-chr20:52680520..52683373,2	MCF-7	breast:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4756-3p	chr20:52684957-52684978	MIMAT0019900
hsa-miR-4756-5p	chr20:52684991-52685013	MIMAT0019899

No data

Variant related genes	Relation type
BCAS1	TF binding region
MIR4756	TF binding region
BCAS1	CpG island
MIR4756	CpG island
ENSG00000263931	chromatin interactions
ENSG00000236352	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000166833	chromatin interactions
ENSG00000163349	chromatin interactions
ENSG00000226308	chromatin interactions
ENSG00000108384	chromatin interactions
ENSG00000267131	chromatin interactions
ENSG00000064787	chromatin interactions
ENSG00000267882	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000265595	chromatin interactions
ENSG00000173567	chromatin interactions
ENSG00000138018	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000266826	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000091831	chromatin interactions
ENSG00000101040	chromatin interactions
ENSG00000122484	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000196562	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000174842	chromatin interactions
ENSG00000121101	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000200997	chromatin interactions
ENSG00000187013	chromatin interactions

Extended variants
information (count: 553 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:553 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6123351	chr20:52681759-52681760	Enhancers Weak transcription Strong transcription	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530607930	chr20:52681764-52681765	Enhancers Weak transcription Strong transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs138549285	chr20:52681818-52681819	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs145985087	chr20:52681819-52681820	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs149561005	chr20:52681820-52681821	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs151168711	chr20:52681821-52681822	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs398088510	chr20:52681822-52681823	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs6127080	chr20:52681923-52681924	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs369683097	chr20:52681930-52681931	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs189303949	chr20:52681953-52681954	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs539588360	chr20:52681960-52681961	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs180933273	chr20:52681977-52681978	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs6022940	chr20:52682002-52682003	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs565818025	chr20:52682005-52682006	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs142440553	chr20:52682027-52682028	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs558105809	chr20:52682048-52682049	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs73134879	chr20:52682063-52682064	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs546589691	chr20:52682078-52682079	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs578137759	chr20:52682093-52682094	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs566709356	chr20:52682179-52682180	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs537221504	chr20:52682201-52682202	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs186391863	chr20:52682204-52682205	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs16998886	chr20:52682205-52682206	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs542653678	chr20:52682209-52682210	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs559318251	chr20:52682239-52682240	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs573027863	chr20:52682243-52682244	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs6127081	chr20:52682258-52682259	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs565198699	chr20:52682259-52682260	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs6123352	chr20:52682293-52682294	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs373752490	chr20:52682314-52682315	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs557800473	chr20:52682355-52682356	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs116438802	chr20:52682369-52682370	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs563606366	chr20:52682414-52682415	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs529190478	chr20:52682469-52682470	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs459376	chr20:52682486-52682487	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs465156	chr20:52682519-52682520	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs150911211	chr20:52682525-52682526	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs551476940	chr20:52682597-52682598	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs563987357	chr20:52682616-52682617	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs572591121	chr20:52682617-52682618	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs11372357	chr20:52682623-52682624	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs397967726	chr20:52682629-52682630	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs6022941	chr20:52682635-52682636	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs537661591	chr20:52682642-52682643	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs290437	chr20:52682650-52682651	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs567666269	chr20:52682664-52682665	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs536527235	chr20:52682666-52682667	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs552984069	chr20:52682699-52682700	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs147691499	chr20:52682704-52682705	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs463722	chr20:52682713-52682714	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:84)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myelodysplastic syndrome	21251322	CNVD
Ductal carcinoma	22052326	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD
Ovarian cancer	22174824	CNVD
Lung cancer	16740712	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16620391	CNVD
Okamoto syndrome	17623483	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Cervical cancer	16585170	CNVD
Ovarian cancer	20844748	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20459607	CNVD
Gastric cancer	18160780	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:240 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52645200-52682200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr20:52669400-52681800	Weak transcription	Gastric	stomach
3	chr20:52674400-52682000	Weak transcription	Colonic Mucosa	Colon
4	chr20:52675000-52683000	Weak transcription	HepG2	liver
5	chr20:52678200-52683800	Weak transcription	HMEC	breast
6	chr20:52678200-52684400	Weak transcription	Fetal Stomach	stomach
7	chr20:52678400-52683200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr20:52679400-52683000	Weak transcription	HSMM	muscle
9	chr20:52679400-52683000	Weak transcription	NH-A	brain
10	chr20:52679600-52682200	Enhancers	Primary B cells from peripheral blood	blood
11	chr20:52679600-52682200	Enhancers	Primary hematopoietic stem cells	blood
12	chr20:52679600-52682400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr20:52679600-52682600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr20:52679800-52682200	Weak transcription	Fetal Heart	heart
15	chr20:52679800-52683000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr20:52679800-52683000	Weak transcription	HSMMtube	muscle
17	chr20:52680000-52682000	Weak transcription	Fetal Intestine Small	intestine
18	chr20:52680000-52683000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr20:52680400-52684400	Enhancers	A549	lung
20	chr20:52680800-52682400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr20:52681000-52682200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr20:52681200-52682200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr20:52681200-52683000	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr20:52681200-52684000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr20:52681200-52684200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr20:52681400-52681800	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr20:52681400-52681800	Enhancers	K562	blood
28	chr20:52681400-52682400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr20:52681400-52682400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr20:52681400-52684000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr20:52681400-52684400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr20:52681400-52684400	Weak transcription	Esophagus	oesophagus
33	chr20:52681400-52684600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr20:52681600-52682800	Enhancers	Stomach Mucosa	stomach
35	chr20:52681600-52684800	Enhancers	GM12878-XiMat	blood
36	chr20:52681800-52682200	Strong transcription	Gastric	stomach
37	chr20:52681800-52682600	Genic enhancers	Rectal Mucosa Donor 31	rectum
38	chr20:52681800-52683200	Flanking Active TSS	K562	blood
39	chr20:52682000-52682400	Enhancers	Fetal Muscle Trunk	muscle
40	chr20:52682000-52682400	Enhancers	Placenta	Placenta
41	chr20:52682000-52682800	Enhancers	Colonic Mucosa	Colon
42	chr20:52682000-52683400	Enhancers	Duodenum Mucosa	Duodenum
43	chr20:52682000-52684600	Enhancers	Fetal Intestine Small	intestine
44	chr20:52682000-52685000	Enhancers	Fetal Intestine Large	intestine
45	chr20:52682200-52682400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr20:52682200-52682400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr20:52682200-52682400	Genic enhancers	Gastric	stomach
48	chr20:52682200-52682400	Enhancers	Pancreas	Pancrea
49	chr20:52682200-52682400	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr20:52682200-52682600	Enhancers	H1 Cell Line	embryonic stem cell

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