Variant report

Variant	nsv1067497
Chromosome Location	chr20:53146241-53751820
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3070)
CpG islands
(count:61)
Chromatin interactive
region (count:759)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3070 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:53285229-53285418	HepG2	liver:	n/a	n/a
2	ARID3A	chr20:53719783-53720265	K562	blood:	n/a	n/a
3	ARID3A	chr20:53710790-53711203	K562	blood:	n/a	n/a
4	ARID3A	chr20:53263433-53263656	K562	blood:	n/a	n/a
5	ARID3A	chr20:53266042-53266377	HepG2	liver:	n/a	n/a
6	ATF1	chr20:53719680-53720104	K562	blood:	n/a	n/a
7	ATF1	chr20:53710893-53711142	K562	blood:	n/a	n/a
8	ATF2	chr20:53282346-53282739	GM12878	blood:	n/a	n/a
9	ATF2	chr20:53250327-53250881	GM12878	blood:	n/a	n/a
10	BACH1	chr20:53706675-53706744	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr20:53362373-53362692	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr20:53710659-53711561	K562	blood:	n/a	n/a
13	BACH1	chr20:53390992-53391376	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr20:53389155-53389194	K562	blood:	n/a	n/a
15	BACH1	chr20:53214383-53214456	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr20:53249891-53250215	GM12878	blood:	n/a	n/a
17	BATF	chr20:53282318-53282726	GM12878	blood:	n/a	chr20:53282450-53282458 chr20:53282540-53282551
18	BATF	chr20:53278427-53278669	GM12878	blood:	n/a	n/a
19	BATF	chr20:53734092-53734400	GM12878	blood:	n/a	n/a
20	BATF	chr20:53249776-53250220	GM12878	blood:	n/a	n/a
21	BATF	chr20:53250383-53250733	GM12878	blood:	n/a	n/a
22	BATF	chr20:53655310-53655524	GM12878	blood:	n/a	n/a
23	BCL11A	chr20:53282282-53282641	GM12878	blood:	n/a	n/a
24	BCL11A	chr20:53691308-53691570	GM12878	blood:	n/a	n/a
25	BCL11A	chr20:53250419-53250782	GM12878	blood:	n/a	n/a
26	BCL11A	chr20:53250441-53250837	GM12878	blood:	n/a	n/a
27	BCL11A	chr20:53734037-53734325	GM12878	blood:	n/a	n/a
28	BCL11A	chr20:53669973-53670244	GM12878	blood:	n/a	n/a
29	BCL11A	chr20:53600254-53600554	GM12878	blood:	n/a	n/a
30	BHLHE40	chr20:53612302-53612352	GM12878	blood:	n/a	n/a
31	BHLHE40	chr20:53308834-53308988	HepG2	liver:	n/a	n/a
32	BHLHE40	chr20:53669921-53670101	GM12878	blood:	n/a	n/a
33	BHLHE40	chr20:53250427-53250904	GM12878	blood:	n/a	n/a
34	BHLHE40	chr20:53265995-53266325	HepG2	liver:	n/a	n/a
35	BHLHE40	chr20:53263400-53263784	GM12878	blood:	n/a	n/a
36	BHLHE40	chr20:53710712-53711631	K562	blood:	n/a	n/a
37	BHLHE40	chr20:53263438-53263831	K562	blood:	n/a	n/a
38	BHLHE40	chr20:53719690-53720106	K562	blood:	n/a	n/a
39	BHLHE40	chr20:53734152-53734335	GM12878	blood:	n/a	n/a
40	BHLHE40	chr20:53263408-53263798	HepG2	liver:	n/a	n/a
41	BHLHE40	chr20:53655390-53655397	GM12878	blood:	n/a	n/a
42	BHLHE40	chr20:53600200-53600670	GM12878	blood:	n/a	n/a
43	BRCA1	chr20:53285230-53285335	HepG2	liver:	n/a	n/a
44	BRCA1	chr20:53444927-53444966	Hela-S3	cervix:	n/a	n/a
45	BRCA1	chr20:53626795-53626807	HepG2	liver:	n/a	n/a
46	CBX3	chr20:53719821-53720214	K562	blood:	n/a	n/a
47	CBX3	chr20:53710745-53711427	K562	blood:	n/a	n/a
48	CBX3	chr20:53719365-53720226	K562	blood:	n/a	n/a
49	CBX3	chr20:53721874-53722229	K562	blood:	n/a	n/a
50	CCNT2	chr20:53719801-53720169	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:53267575-53267625	HepG2	liver:	n/a
2	chr20:53267575-53267625	IMR90	lung:	fetal
3	chr20:53267575-53267625	GM19239	blood:	n/a
4	chr20:53267575-53267625	GM06990	blood:	n/a
5	chr20:53267575-53267625	HCT-116	colon:	n/a
6	chr20:53267575-53267625	AG10803	skin:	n/a
7	chr20:53267575-53267625	HEK293	kidney:	embryo
8	chr20:53267575-53267625	HCPEpiC	choroid plexus:	n/a
9	chr20:53267575-53267625	RPTEC	kidney:	n/a
10	chr20:53267575-53267625	K562	blood:	n/a
11	chr20:53267575-53267625	HRPEpiC	eye:	n/a
12	chr20:53267575-53267625	HNPCEpiC	eye:	n/a
13	chr20:53267575-53267625	LNCaP	prostate:	n/a
14	chr20:53267575-53267625	SKMC	muscle:	n/a
15	chr20:53267575-53267625	MCF10A-Er-Src	breast:	n/a
16	chr20:53267575-53267625	HRCEpiC	kidney:	n/a
17	chr20:53267575-53267625	Caco-2	colon:	n/a
18	chr20:53267575-53267625	Hepatocyte	liver:	n/a
19	chr20:53267575-53267625	T-47D	breast:	n/a
20	chr20:53267575-53267625	PrEC	prostate:	n/a
21	chr20:53267575-53267625	GM12891	blood:	n/a
22	chr20:53267575-53267625	SK-N-MC	brain:	n/a
23	chr20:53267575-53267625	HL-60	blood:	n/a
24	chr20:53267575-53267625	NHBE	bronchial:	n/a
25	chr20:53267575-53267625	Jurkat	blood:	n/a
26	chr20:53267575-53267625	NHDF-neo	bronchial:	n/a
27	chr20:53267575-53267625	MCF-7	breast:	n/a
28	chr20:53267575-53267625	AG09319	gingival:	n/a
29	chr20:53267575-53267625	ProgFib	skin:	n/a
30	chr20:53267575-53267625	HCF	heart:	n/a
31	chr20:53267575-53267625	ECC-1	luminal epithelium:	n/a
32	chr20:53267575-53267625	ovcar-3	ovarian:	n/a
33	chr20:53267575-53267625	AG09309	skin:	n/a
34	chr20:53267575-53267625	BJ	skin:	n/a
35	chr20:53267575-53267625	SK-N-SH	brain:	n/a
36	chr20:53267575-53267625	PFSK-1	brain:	n/a
37	chr20:53267575-53267625	HUVEC	blood vessel:	n/a
38	chr20:53267575-53267625	PANC-1	pancreas:	n/a
39	chr20:53267575-53267625	NB4	blood:	n/a
40	chr20:53267575-53267625	GM12892	blood:	n/a
41	chr20:53267575-53267625	CMK	blood:	n/a
42	chr20:53267575-53267625	AG04449	skin:	fetal
43	chr20:53267575-53267625	U87	brain:	n/a
44	chr20:53267575-53267625	HAEpiC	amniotic membrane:	n/a
45	chr20:53267575-53267625	HCM	heart:	n/a
46	chr20:53267575-53267625	AoSMC	blood vessel:	n/a
47	chr20:53267575-53267625	NH-A	brain:	n/a
48	chr20:53267575-53267625	Hela-S3	cervix:	n/a
49	chr20:53267575-53267625	AG04450	lung:	fetal
50	chr20:53267575-53267625	SAEC	small airway:	n/a

(count:759 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Distal block	Cell Line	Cell type
1	chr20:53297039..53297648-chr3:64543662..64544449,2	MCF-7	breast:
2	chr20:53290085..53292614-chr20:53295758..53297521,2	MCF-7	breast:
3	chr20:53150589..53153407-chr20:53188313..53191169,3	MCF-7	breast:
4	chr20:52815942..52818202-chr20:53262668..53264663,9	MCF-7	breast:
5	chr20:53446437..53449220-chr20:53453881..53456288,2	MCF-7	breast:
6	chr20:53261915..53264807-chr20:53286541..53288254,2	MCF-7	breast:
7	chr20:52810712..52813833-chr20:53262210..53265088,4	MCF-7	breast:
8	chr20:52835324..52837419-chr20:53262103..53264598,40	MCF-7	breast:
9	chr17:62389746..62390289-chr20:53556791..53557370,2	MCF-7	breast:
10	chr20:53238250..53239788-chr20:53246518..53248056,2	MCF-7	breast:
11	chr20:53533974..53538629-chr20:53538672..53542933,6	MCF-7	breast:
12	chr20:53095947..53096812-chr20:53262655..53264011,3	MCF-7	breast:
13	chr20:53467255..53472616-chr20:53474478..53478474,4	MCF-7	breast:
14	chr20:53429713..53431640-chr20:53437214..53439986,2	MCF-7	breast:
15	chr17:62397851..62398803-chr20:53555134..53556107,4	MCF-7	breast:
16	chr20:53327023..53327572-chr20:53337636..53338159,2	MCF-7	breast:
17	chr20:53380244..53382544-chr20:53382706..53384344,2	K562	blood:
18	chr17:57923077..57924669-chr20:53549563..53551716,2	MCF-7	breast:
19	chr20:53297030..53299399-chr3:64518913..64520051,28	MCF-7	breast:
20	chr20:52956537..52957497-chr20:53265086..53265630,2	MCF-7	breast:
21	chr20:52821463..52842130-chr20:53255769..53272087,93	MCF-7	breast:
22	chr20:53255269..53257076-chr20:53258321..53260016,2	K562	blood:
23	chr20:53688590..53691099-chr20:53696161..53698159,2	K562	blood:
24	chr20:53151757..53155024-chr20:53157486..53161432,6	MCF-7	breast:
25	chr20:53283290..53284914-chr3:64513834..64516578,2	MCF-7	breast:
26	chr20:53284416..53286265-chr3:64518639..64520757,22	MCF-7	breast:
27	chr20:52684308..52686791-chr20:53262542..53265361,3	MCF-7	breast:
28	chr20:53216202..53218658-chr20:53228633..53231188,2	MCF-7	breast:
29	chr20:53297063..53298490-chr3:64703588..64704964,7	MCF-7	breast:
30	chr2:47214206..47214770-chr20:53290236..53290902,2	MCF-7	breast:
31	chr20:52685816..52688703-chr20:53265185..53266760,2	MCF-7	breast:
32	chr20:53487853..53490611-chr20:53501403..53504058,2	MCF-7	breast:
33	chr20:53282921..53283426-chr20:53300082..53300956,2	MCF-7	breast:
34	chr20:52984992..52985954-chr20:53263110..53264230,3	MCF-7	breast:
35	chr20:52828350..52830415-chr20:53280518..53282559,2	MCF-7	breast:
36	chr20:53727228..53729722-chr20:53733807..53735939,2	K562	blood:
37	chr20:53162429..53164174-chr20:53176015..53178353,2	MCF-7	breast:
38	chr17:65820860..65823645-chr20:53281170..53282894,2	MCF-7	breast:
39	chr20:53271939..53272445-chr9:90721136..90721905,2	MCF-7	breast:
40	chr17:59648813..59649546-chr20:53544658..53545268,2	MCF-7	breast:
41	chr20:53000318..53001983-chr20:53203861..53206076,2	MCF-7	breast:
42	chr20:53265522..53267786-chr20:53285191..53286958,2	MCF-7	breast:
43	chr17:62388570..62391052-chr20:53552500..53555327,2	MCF-7	breast:
44	chr20:53296906..53298947-chr20:53330986..53333656,2	MCF-7	breast:
45	chr20:52823269..52825288-chr20:53284524..53286083,2	MCF-7	breast:
46	chr20:53596926..53599724-chr20:53601086..53602936,2	K562	blood:
47	chr20:53476868..53479575-chr20:53491320..53493490,2	MCF-7	breast:
48	chr20:53332124..53334806-chr20:53338155..53340466,2	MCF-7	breast:
49	chr20:53283717..53285430-chr3:64475712..64477407,2	MCF-7	breast:
50	chr20:53359596..53360328-chr9:140464458..140465187,2	MCF-7	breast:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DOK5-2	chr20:53473010-53473191	NONHSAT080423
2	lnc-CYP24A1-2	chr20:53477014-53477142	NONHSAT080421
3	lnc-DOK5-2	chr20:53472988-53473191	NONHSAT080422
4	lnc-DOK5-2	chr20:53476505-53476958	l_2141_chr20:53472997-53476730_testes
5	lnc-CYP24A1-2	chr20:53470281-53472307	NONHSAT080421
6	lnc-DOK5-2	chr20:53475812-53476015	l_2141_chr20:53472997-53476730_testes
7	lnc-CYP24A1-2	chr20:53473422-53473555	NONHSAT080421
8	lnc-DOK5-2	chr20:53475816-53476015	NONHSAT080422
9	lnc-DOK5-2	chr20:53475816-53476015	NONHSAT080423
10	lnc-DOK5-2	chr20:53488074-53488248	NONHSAT080422
11	lnc-DOK5-2	chr20:53518036-53518159	NONHSAT080422
12	lnc-DOK5-2	chr20:53472998-53473191	l_2141_chr20:53472997-53476730_testes
13	lnc-DOK5-2	chr20:53516762-53516885	NONHSAT080422
14	lnc-DOK5-2	chr20:53501484-53501794	NONHSAT080422
15	lnc-DOK5-2	chr20:53498810-53498914	NONHSAT080422
16	lnc-DOK5-2	chr20:53476505-53476735	NONHSAT080423
17	lnc-DOK5-2	chr20:53502282-53502378	NONHSAT080422

No data

Variant related genes	Relation type
DOK5	TF binding region
RNU4ATAC7P	TF binding region
RPL12P4	TF binding region
DOK5	CpG island
RNU4ATAC7P	CpG island
RPL12P4	CpG island
ENSG00000180694	chromatin interactions
ENSG00000170421	chromatin interactions
ENSG00000265681	chromatin interactions
ENSG00000108106	chromatin interactions
ENSG00000271982	chromatin interactions
ENSG00000124171	chromatin interactions
ENSG00000136492	chromatin interactions
ENSG00000115844	chromatin interactions
ENSG00000196562	chromatin interactions
ENSG00000164414	chromatin interactions
ENSG00000135525	chromatin interactions
ENSG00000124243	chromatin interactions
ENSG00000246792	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000272114	chromatin interactions
ENSG00000069849	chromatin interactions
ENSG00000094631	chromatin interactions
ENSG00000206602	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000173846	chromatin interactions
ENSG00000265595	chromatin interactions
ENSG00000221995	chromatin interactions
ENSG00000144579	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000255568	chromatin interactions
ENSG00000156831	chromatin interactions
ENSG00000108387	chromatin interactions
ENSG00000088205	chromatin interactions
ENSG00000100227	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000083307	chromatin interactions
ENSG00000156471	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000064787	chromatin interactions
ENSG00000164961	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000254024	chromatin interactions
ENSG00000128534	chromatin interactions
ENSG00000171634	chromatin interactions
ENSG00000253128	chromatin interactions
ENSG00000197381	chromatin interactions
ENSG00000238141	chromatin interactions
ENSG00000101132	chromatin interactions
ENSG00000019186	chromatin interactions
ENSG00000272189	chromatin interactions
ENSG00000255438	chromatin interactions
ENSG00000264063	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000238923	chromatin interactions
ENSG00000169242	chromatin interactions
ENSG00000197980	chromatin interactions
ENSG00000112715	chromatin interactions
ENSG00000196924	chromatin interactions
ENSG00000156469	chromatin interactions
ENSG00000251184	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000236352	chromatin interactions
ENSG00000101134	chromatin interactions
ENSG00000260267	chromatin interactions
ENSG00000252089	chromatin interactions
ENSG00000163638	chromatin interactions

Extended variants
information (count: 15168 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:15168 , 50 per page) page: 1 2 3 4 5 6 7 ... 304

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8126261	chr20:53146241-53146242	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs187463836	chr20:53146246-53146247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567088805	chr20:53146270-53146271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539121427	chr20:53146271-53146272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559120193	chr20:53146292-53146293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551439560	chr20:53146307-53146308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191045426	chr20:53146320-53146321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553150064	chr20:53146332-53146333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544632185	chr20:53146366-53146367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372520875	chr20:53146499-53146500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145312519	chr20:53146504-53146505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6098046	chr20:53146546-53146547	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs137994725	chr20:53146565-53146566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559086745	chr20:53146569-53146570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372187121	chr20:53146621-53146622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528303961	chr20:53146652-53146653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544700644	chr20:53146688-53146689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377070089	chr20:53146703-53146704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115695170	chr20:53146736-53146737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530531442	chr20:53146738-53146739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550505160	chr20:53146771-53146772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368854509	chr20:53146783-53146784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs367992559	chr20:53146785-53146786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143781854	chr20:53146804-53146805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571791979	chr20:53146854-53146855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534253283	chr20:53146882-53146883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182673460	chr20:53146892-53146893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs56158072	chr20:53146904-53146905	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs187294002	chr20:53146923-53146924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562988896	chr20:53146945-53146946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569292242	chr20:53146967-53146968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537954632	chr20:53147001-53147002	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs554442490	chr20:53147011-53147012	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs554919627	chr20:53147046-53147047	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs574754865	chr20:53147096-53147097	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs192063804	chr20:53147114-53147115	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs59393556	chr20:53147116-53147117	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs148164070	chr20:53147122-53147123	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs77917432	chr20:53147156-53147157	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs544764782	chr20:53147222-53147223	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs377044335	chr20:53147256-53147257	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs575518160	chr20:53147284-53147285	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs6091915	chr20:53147309-53147310	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs6098047	chr20:53147453-53147454	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs543988808	chr20:53147489-53147490	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs6023343	chr20:53147510-53147511	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs78312160	chr20:53147541-53147542	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs184424492	chr20:53147549-53147550	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs144145648	chr20:53147642-53147643	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs78286716	chr20:53147676-53147677	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Osteosarcoma	21215367	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:1157 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53120800-53148800	Weak transcription	Left Ventricle	heart
2	chr20:53129600-53149200	Weak transcription	Aorta	Aorta
3	chr20:53143000-53147200	Weak transcription	Brain Germinal Matrix	brain
4	chr20:53145600-53148600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr20:53146200-53147000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr20:53147000-53147800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr20:53147200-53147400	ZNF genes & repeats	Brain Germinal Matrix	brain
8	chr20:53147800-53149000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr20:53148400-53149000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr20:53148600-53149600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr20:53148600-53150000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr20:53148800-53149000	Enhancers	Fetal Brain Female	brain
13	chr20:53148800-53149200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr20:53148800-53149400	Enhancers	Adipose Nuclei	Adipose
15	chr20:53148800-53149400	Enhancers	Brain Anterior Caudate	brain
16	chr20:53148800-53149400	Enhancers	Left Ventricle	heart
17	chr20:53149000-53149200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr20:53149000-53149400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr20:53149000-53149400	Enhancers	Psoas Muscle	Psoas
20	chr20:53149000-53149400	Enhancers	Right Atrium	heart
21	chr20:53149000-53149400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr20:53149000-53151200	Weak transcription	Fetal Brain Female	brain
23	chr20:53149200-53149400	Enhancers	Aorta	Aorta
24	chr20:53149400-53149600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr20:53149400-53150600	Weak transcription	Psoas Muscle	Psoas
26	chr20:53149400-53151200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr20:53149600-53150800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr20:53150000-53151600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr20:53150800-53151000	Enhancers	Psoas Muscle	Psoas
30	chr20:53150800-53151000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr20:53150800-53152400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr20:53151000-53152400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr20:53151000-53152800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr20:53151200-53153000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr20:53151200-53153000	Enhancers	Fetal Brain Female	brain
36	chr20:53151600-53152000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr20:53151600-53152800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr20:53151600-53153000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr20:53151600-53153000	Enhancers	Osteobl	bone
40	chr20:53151800-53153000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr20:53152800-53153200	Enhancers	Fetal Stomach	stomach
42	chr20:53153000-53153200	Weak transcription	Ovary	ovary
43	chr20:53153000-53161800	Weak transcription	Osteobl	bone
44	chr20:53153200-53153400	Enhancers	Ovary	ovary
45	chr20:53153400-53155200	Weak transcription	Ovary	ovary
46	chr20:53158400-53158800	Enhancers	Fetal Brain Male	brain
47	chr20:53158800-53161200	Weak transcription	Fetal Brain Male	brain
48	chr20:53161000-53161400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr20:53161200-53162000	Enhancers	Fetal Brain Male	brain
50	chr20:53161400-53162400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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