Variant report

Variant	nsv997771
Chromosome Location	chr3:53852695-53926635
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2512)
CpG islands
(count:3176)
Chromatin interactive
region (count:68)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:2512 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:53875409-53875638	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:53915953-53916241	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:53916095-53916159	K562	blood:	n/a	n/a
4	ARID3A	chr3:53878608-53878939	HepG2	liver:	n/a	n/a
5	ARID3A	chr3:53876698-53878019	HepG2	liver:	n/a	chr3:53877014-53877030
6	ARID3A	chr3:53925749-53926241	HepG2	liver:	n/a	n/a
7	ARID3A	chr3:53880305-53880971	HepG2	liver:	n/a	n/a
8	ATF1	chr3:53885026-53885200	K562	blood:	n/a	n/a
9	ATF1	chr3:53925053-53926665	K562	blood:	n/a	n/a
10	ATF2	chr3:53925733-53926272	GM12878	blood:	n/a	n/a
11	ATF2	chr3:53915793-53916546	GM12878	blood:	n/a	n/a
12	ATF2	chr3:53925628-53926357	GM12878	blood:	n/a	n/a
13	ATF2	chr3:53919242-53919670	GM12878	blood:	n/a	n/a
14	ATF2	chr3:53919214-53919616	GM12878	blood:	n/a	n/a
15	ATF2	chr3:53925618-53926100	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF3	chr3:53925838-53926140	K562	blood:	n/a	n/a
17	BACH1	chr3:53925690-53926288	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr3:53925213-53925396	K562	blood:	n/a	n/a
19	BACH1	chr3:53925862-53926461	K562	blood:	n/a	n/a
20	BACH1	chr3:53915601-53915814	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr3:53876560-53877103	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr3:53879511-53879848	H1-hESC	embryonic stem cell:	n/a	n/a
23	BATF	chr3:53919318-53919618	GM12878	blood:	n/a	n/a
24	BCLAF1	chr3:53915553-53916509	GM12878	blood:	n/a	chr3:53915953-53915962
25	BCLAF1	chr3:53925490-53926439	GM12878	blood:	n/a	chr3:53925670-53925683 chr3:53925669-53925682
26	BCLAF1	chr3:53915471-53916369	GM12878	blood:	n/a	chr3:53915953-53915962
27	BCLAF1	chr3:53925463-53926403	GM12878	blood:	n/a	chr3:53925670-53925683 chr3:53925669-53925682
28	BHLHE40	chr3:53880224-53880527	K562	blood:	n/a	n/a
29	BHLHE40	chr3:53880154-53880774	HepG2	liver:	n/a	n/a
30	BHLHE40	chr3:53880315-53880471	A549	lung:	n/a	n/a
31	BHLHE40	chr3:53876815-53877169	HepG2	liver:	n/a	n/a
32	BHLHE40	chr3:53876633-53877763	HepG2	liver:	n/a	n/a
33	BHLHE40	chr3:53880178-53880482	HepG2	liver:	n/a	n/a
34	BHLHE40	chr3:53925718-53926400	GM12878	blood:	n/a	n/a
35	BHLHE40	chr3:53879719-53880817	GM12878	blood:	n/a	chr3:53880063-53880079
36	BHLHE40	chr3:53915760-53916144	K562	blood:	n/a	n/a
37	BHLHE40	chr3:53876853-53877464	GM12878	blood:	n/a	n/a
38	BHLHE40	chr3:53882631-53882725	GM12878	blood:	n/a	n/a
39	BHLHE40	chr3:53925528-53926286	K562	blood:	n/a	n/a
40	BHLHE40	chr3:53877854-53878245	GM12878	blood:	n/a	n/a
41	BHLHE40	chr3:53915640-53916724	GM12878	blood:	n/a	n/a
42	BRCA1	chr3:53925601-53926262	HepG2	liver:	n/a	n/a
43	BRCA1	chr3:53915112-53915517	H1-hESC	embryonic stem cell:	n/a	n/a
44	BRCA1	chr3:53880497-53880762	HepG2	liver:	n/a	n/a
45	BRCA1	chr3:53925047-53925503	Hela-S3	cervix:	n/a	n/a
46	BRCA1	chr3:53925895-53926237	H1-hESC	embryonic stem cell:	n/a	n/a
47	BRCA1	chr3:53915766-53915868	H1-hESC	embryonic stem cell:	n/a	n/a
48	BRCA1	chr3:53915645-53915698	GM12878	blood:	n/a	n/a
49	BRCA1	chr3:53925748-53926388	Hela-S3	cervix:	n/a	n/a
50	BRCA1	chr3:53876900-53877389	HepG2	liver:	n/a	n/a

(count:3176 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:53925981-53926031	NB4	blood:	n/a
2	chr3:53915801-53915851	Hela-S3	cervix:	n/a
3	chr3:53926156-53926206	Hepatocyte	liver:	n/a
4	chr3:53916982-53917032	AG09319	gingival:	n/a
5	chr3:53925981-53926031	NB4	blood:	n/a
6	chr3:53915801-53915851	Hela-S3	cervix:	n/a
7	chr3:53926156-53926206	Hepatocyte	liver:	n/a
8	chr3:53916982-53917032	AG09319	gingival:	n/a
9	chr3:53915957-53916007	HCF	heart:	n/a
10	chr3:53919558-53919608	PANC-1	pancreas:	n/a
11	chr3:53880717-53880767	HL-60	blood:	n/a
12	chr3:53857698-53857748	HCT-116	colon:	n/a
13	chr3:53916319-53916369	NHBE	bronchial:	n/a
14	chr3:53880378-53880428	Hepatocyte	liver:	n/a
15	chr3:53857989-53858039	NH-A	brain:	n/a
16	chr3:53925587-53925637	SKMC	muscle:	n/a
17	chr3:53879950-53880000	RPTEC	kidney:	n/a
18	chr3:53857698-53857748	HL-60	blood:	n/a
19	chr3:53926284-53926334	Hepatocyte	liver:	n/a
20	chr3:53925267-53925317	HRPEpiC	eye:	n/a
21	chr3:53916982-53917032	K562	blood:	n/a
22	chr3:53857698-53857748	LNCaP	prostate:	n/a
23	chr3:53878642-53878692	ovcar-3	ovarian:	n/a
24	chr3:53912235-53912285	NT2-D1	testis:	n/a
25	chr3:53914075-53914125	GM12891	blood:	n/a
26	chr3:53878642-53878692	Hela-S3	cervix:	n/a
27	chr3:53917543-53917593	U87	brain:	n/a
28	chr3:53925981-53926031	MCF10A-Er-Src	breast:	n/a
29	chr3:53880376-53880426	AG09319	gingival:	n/a
30	chr3:53925379-53925429	Hela-S3	cervix:	n/a
31	chr3:53926080-53926130	Caco-2	colon:	n/a
32	chr3:53916015-53916065	GM12891	blood:	n/a
33	chr3:53857939-53857989	GM06990	blood:	n/a
34	chr3:53926056-53926106	NB4	blood:	n/a
35	chr3:53915801-53915851	HCT-116	colon:	n/a
36	chr3:53926035-53926085	MCF-7	breast:	n/a
37	chr3:53880717-53880767	PFSK-1	brain:	n/a
38	chr3:53880378-53880428	AG10803	skin:	n/a
39	chr3:53855929-53855979	GM06990	blood:	n/a
40	chr3:53860720-53860770	Hela-S3	cervix:	n/a
41	chr3:53860720-53860770	AG09319	gingival:	n/a
42	chr3:53925267-53925317	Hela-S3	cervix:	n/a
43	chr3:53925981-53926031	AG09309	skin:	n/a
44	chr3:53880378-53880428	AoSMC	blood vessel:	n/a
45	chr3:53912235-53912285	HCT-116	colon:	n/a
46	chr3:53857953-53858003	AG04449	skin:	fetal
47	chr3:53916291-53916341	NHDF-neo	bronchial:	n/a
48	chr3:53857876-53857926	HEEpiC	esophagus:	n/a
49	chr3:53925267-53925317	RPTEC	kidney:	n/a
50	chr3:53857698-53857748	PANC-1	pancreas:	n/a

(count:68 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:53866125..53868465-chr3:53874787..53877078,2	K562	blood:
2	chr3:53925577..53926163-chr6:56819278..56819811,2	Hela-S3	cervix:
3	chr19:1268912..1269727-chr3:53925139..53925887,2	Hela-S3	cervix:
4	chr3:53901985..53904512-chr3:53906172..53908429,2	K562	blood:
5	chr3:53913820..53918433-chr3:53924406..53927799,6	MCF-7	breast:
6	chr3:53889507..53891726-chr3:53914863..53916611,2	MCF-7	breast:
7	chr3:53914339..53916278-chr3:53921868..53924184,3	MCF-7	breast:
8	chr3:53906924..53910795-chr3:53914021..53916121,3	MCF-7	breast:
9	chr3:53882366..53883990-chr3:53889340..53891284,2	MCF-7	breast:
10	chr3:53889294..53893230-chr3:53913823..53917660,4	K562	blood:
11	chr3:53891718..53893662-chr3:53914983..53917466,2	MCF-7	breast:
12	chr3:53874777..53878635-chr3:53878874..53882397,7	MCF-7	breast:
13	chr3:53924684..53925501-chr7:135346877..135347648,2	NB4	blood:
14	chr3:53844590..53847374-chr3:53851329..53853049,2	K562	blood:
15	chr3:53901985..53904512-chr3:53906172..53908429,2	K562	blood:
16	chr3:53865722..53867529-chr3:53870209..53872321,2	MCF-7	breast:
17	chr3:53865722..53867529-chr3:53870209..53872321,2	MCF-7	breast:
18	chr11:76571922..76572822-chr3:53915731..53916676,2	Hela-S3	cervix:
19	chr3:53859983..53863659-chr3:53876929..53880341,3	MCF-7	breast:
20	chr3:53903830..53906738-chr3:53907491..53909258,2	MCF-7	breast:
21	chr3:53880225..53881825-chr3:53914407..53917091,2	MCF-7	breast:
22	chr3:28282969..28283575-chr3:53879378..53880306,2	Hela-S3	cervix:
23	chr3:53888852..53890407-chr3:53890829..53893730,2	K562	blood:
24	chr3:53919776..53924259-chr3:53924368..53927481,7	K562	blood:
25	chr3:53913820..53918433-chr3:53924406..53927799,6	MCF-7	breast:
26	chr3:53878629..53881188-chr3:53889615..53893181,4	MCF-7	breast:
27	chr3:53909521..53911477-chr3:53924349..53927028,2	MCF-7	breast:
28	chr3:53914775..53921125-chr3:53923203..53927129,12	MCF-7	breast:
29	chr3:53908420..53912131-chr3:53913956..53917012,3	MCF-7	breast:
30	chr3:53897345..53899772-chr3:53903994..53906102,2	K562	blood:
31	chr3:53909521..53911477-chr3:53924349..53927028,2	MCF-7	breast:
32	chr3:53288526..53291244-chr3:53879304..53881119,2	MCF-7	breast:
33	chr3:53921644..53923214-chr3:53923445..53925751,2	MCF-7	breast:
34	chr3:53871494..53874275-chr3:53875042..53877358,2	MCF-7	breast:
35	chr3:53853872..53855809-chr3:53924023..53926528,2	K562	blood:
36	chr3:53906924..53910795-chr3:53914021..53916121,3	MCF-7	breast:
37	chr20:30193754..30194579-chr3:53926417..53926984,2	Hela-S3	cervix:
38	chr3:53895286..53896843-chr3:53899099..53900867,2	MCF-7	breast:
39	chr3:53889289..53890794-chr3:53913811..53916721,2	K562	blood:
40	chr3:53888852..53890407-chr3:53890829..53893730,2	K562	blood:
41	chr3:53879945..53880611-chr6:30028486..30029019,2	Hela-S3	cervix:
42	chr3:53901391..53905529-chr3:53913413..53917026,5	MCF-7	breast:
43	chr3:53866511..53869792-chr3:53878002..53881981,4	MCF-7	breast:
44	chr3:53526182..53528875-chr3:53879796..53881358,2	MCF-7	breast:
45	chr3:53913333..53919757-chr3:53920203..53928086,26	K562	blood:
46	chr3:53897547..53899772-chr3:53903890..53906304,3	K562	blood:
47	chr3:53871494..53874275-chr3:53875042..53877358,2	MCF-7	breast:
48	chr3:53882366..53883990-chr3:53889340..53891284,2	MCF-7	breast:
49	chr3:53857432..53859908-chr3:53878977..53881329,3	MCF-7	breast:
50	chr3:53879984..53882560-chr3:53883892..53885609,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACTR8-2	chr3:53924953-53925087	NONHSAT090009
2	lnc-ACTR8-2	chr3:53922023-53922510	NONHSAT090008
3	lnc-ACTR8-1	chr3:53893021-53895603	ENSG00000271976.1
4	lnc-ACTR8-1	chr3:53893020-53895603	NONHSAT090006
5	lnc-ACTR8-2	chr3:53922422-53922510	NONHSAT090009
6	lnc-ACTR8-2	chr3:53925797-53925912	NONHSAT090009
7	lnc-ACTR8-3	chr3:53868060-53870643	ncRnaDb_ncrna_FR081823_1
8	lnc-ACTR8-2	chr3:53925797-53925882	NONHSAT090008

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	ACTR8	hsa-miR-124-3p	chr3:53901411-53901405
2	ACTR8	hsa-miR-124-3p	chr3:53901405-53901424
3	IL17RB	hsa-miR-155-5p	chr3:53899480-53899502

Variant related genes	Relation type
ENSG00000113811	TF binding region
CHDH	TF binding region
ENSG00000271976	TF binding region
ACTR8	TF binding region
ENSG00000222888	TF binding region
IL17RB	TF binding region
ENSG00000113811	CpG island
CHDH	CpG island
ENSG00000271976	CpG island
ACTR8	CpG island
ENSG00000222888	CpG island
IL17RB	CpG island
ENSG00000204623	chromatin interactions
ENSG00000271976	chromatin interactions
ENSG00000151917	chromatin interactions
ENSG00000099622	chromatin interactions
ENSG00000016391	chromatin interactions
ENSG00000166192	chromatin interactions
ENSG00000128463	chromatin interactions
ENSG00000187118	chromatin interactions
ENSG00000243317	chromatin interactions
ENSG00000222888	chromatin interactions
ENSG00000151914	chromatin interactions
ENSG00000113811	chromatin interactions
ENSG00000113812	chromatin interactions
ENSG00000157388	chromatin interactions
ENSG00000056736	chromatin interactions
ENSG00000163931	chromatin interactions
ENSG00000066933	chromatin interactions
ENSG00000078124	chromatin interactions
ENSG00000013588	chromatin interactions

Extended variants
information (count: 3051 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:3051 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145719962	chr3:53852696-53852697	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs541625946	chr3:53852749-53852750	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs371632948	chr3:53852799-53852800	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs559334026	chr3:53852826-53852827	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs2289209	chr3:53852835-53852836	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs541620249	chr3:53852845-53852846	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs148917186	chr3:53852846-53852847	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs180811510	chr3:53852850-53852851	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs186203697	chr3:53852855-53852856	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs145703041	chr3:53852905-53852906	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs58949685	chr3:53852913-53852914	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs138363055	chr3:53852920-53852921	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs191180694	chr3:53852939-53852940	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs376898513	chr3:53852982-53852983	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs369543459	chr3:53852992-53852993	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs34974961	chr3:53853009-53853010	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148122018	chr3:53853011-53853012	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146005054	chr3:53853036-53853037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35375185	chr3:53853041-53853042	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
20	rs149887609	chr3:53853042-53853043	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373098572	chr3:53853048-53853049	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530516553	chr3:53853049-53853050	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144810644	chr3:53853074-53853075	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148243046	chr3:53853075-53853076	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548832951	chr3:53853177-53853178	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9863776	chr3:53853181-53853182	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs115687288	chr3:53853206-53853207	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141367157	chr3:53853211-53853212	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546795532	chr3:53853222-53853223	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182686405	chr3:53853269-53853270	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150785138	chr3:53853349-53853350	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542031397	chr3:53853366-53853367	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561698686	chr3:53853394-53853395	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187018201	chr3:53853406-53853407	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544276983	chr3:53853427-53853428	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112907245	chr3:53853449-53853450	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139043745	chr3:53853451-53853452	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533145855	chr3:53853460-53853461	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149110747	chr3:53853490-53853491	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373914197	chr3:53853537-53853538	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560840677	chr3:53853548-53853549	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144271109	chr3:53853580-53853581	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375592914	chr3:53853591-53853592	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370185031	chr3:53853592-53853593	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372747407	chr3:53853599-53853600	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs199841801	chr3:53853620-53853621	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374272735	chr3:53853628-53853629	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368495308	chr3:53853634-53853635	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142488912	chr3:53853660-53853661	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376011719	chr3:53853697-53853698	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Lung cancer	16618734	CNVD
Neuroblastoma	19686582	CNVD
Renal cell carcinoma	18765545	CNVD
Adrenocortical carcinoma	18281524	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2902 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53829200-53853000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:53839200-53855200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:53839600-53852800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr3:53839600-53876600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr3:53840800-53853600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr3:53841000-53852800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr3:53841600-53855600	Weak transcription	Right Ventricle	heart
8	chr3:53841600-53855800	Weak transcription	Right Atrium	heart
9	chr3:53841800-53853400	Weak transcription	Fetal Brain Female	brain
10	chr3:53841800-53853400	Weak transcription	GM12878-XiMat	blood
11	chr3:53842200-53857200	Strong transcription	Fetal Intestine Large	intestine
12	chr3:53842400-53855600	Weak transcription	Fetal Heart	heart
13	chr3:53846600-53879800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:53847000-53856400	Weak transcription	Brain Germinal Matrix	brain
15	chr3:53847000-53862000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:53849000-53857200	Strong transcription	Duodenum Mucosa	Duodenum
17	chr3:53849000-53857800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:53849000-53858200	Strong transcription	Fetal Stomach	stomach
19	chr3:53849000-53858800	Strong transcription	Liver	Liver
20	chr3:53849000-53859200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:53849000-53866800	Weak transcription	Stomach Mucosa	stomach
22	chr3:53849200-53853800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:53849600-53875400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:53850000-53855200	Strong transcription	Brain Inferior Temporal Lobe	brain
25	chr3:53850600-53857400	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr3:53850800-53854600	Strong transcription	Pancreatic Islets	Pancreatic Islet
27	chr3:53850800-53858600	Strong transcription	Gastric	stomach
28	chr3:53851000-53854400	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr3:53851000-53858000	Strong transcription	Pancreas	Pancrea
30	chr3:53851200-53853200	Strong transcription	Lung	lung
31	chr3:53851200-53853400	Strong transcription	Colonic Mucosa	Colon
32	chr3:53851200-53854600	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr3:53851200-53857400	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr3:53851200-53858000	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr3:53851400-53852800	Strong transcription	Fetal Muscle Leg	muscle
36	chr3:53851400-53854000	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr3:53851400-53854400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr3:53851400-53855000	Strong transcription	Brain Hippocampus Middle	brain
39	chr3:53851600-53853400	Enhancers	Fetal Thymus	thymus
40	chr3:53851600-53853600	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr3:53851600-53855000	Strong transcription	Brain Cingulate Gyrus	brain
42	chr3:53851600-53856000	Genic enhancers	HepG2	liver
43	chr3:53851600-53858000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr3:53851800-53853800	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr3:53851800-53854600	Strong transcription	Brain Angular Gyrus	brain
46	chr3:53851800-53854600	Strong transcription	Brain Anterior Caudate	brain
47	chr3:53852000-53853000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr3:53852000-53853200	Bivalent Enhancer	Dnd41	blood
49	chr3:53852000-53854600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr3:53852000-53856400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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