Variant report

Variant	nsv2506
Chromosome Location	chr19:45253263-45297811
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2419)
CpG islands
(count:1525)
Chromatin interactive
region (count:81)
LncRNA
region (count:2)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:2419 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:45268479-45269191	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:45277476-45277887	HepG2	liver:	n/a	n/a
3	ARID3A	chr19:45256660-45256838	K562	blood:	n/a	n/a
4	ARID3A	chr19:45287657-45287918	HepG2	liver:	n/a	n/a
5	ARID3A	chr19:45273939-45274349	K562	blood:	n/a	n/a
6	ARID3A	chr19:45273921-45274304	HepG2	liver:	n/a	n/a
7	ATF1	chr19:45273789-45274206	K562	blood:	n/a	n/a
8	ATF1	chr19:45256559-45256935	K562	blood:	n/a	chr19:45256752-45256766
9	ATF2	chr19:45256472-45256995	GM12878	blood:	n/a	chr19:45256752-45256766
10	ATF2	chr19:45273610-45274290	GM12878	blood:	n/a	n/a
11	ATF2	chr19:45287634-45287966	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr19:45273732-45274089	GM12878	blood:	n/a	n/a
13	ATF2	chr19:45256468-45257029	GM12878	blood:	n/a	chr19:45256752-45256766
14	ATF3	chr19:45256559-45256928	K562	blood:	n/a	n/a
15	ATF3	chr19:45256299-45256989	A549	lung:	n/a	n/a
16	ATF3	chr19:45268079-45268594	A549	lung:	n/a	n/a
17	ATF3	chr19:45256292-45257001	A549	lung:	n/a	n/a
18	BACH1	chr19:45281085-45281315	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr19:45261537-45261818	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr19:45256725-45256731	K562	blood:	n/a	n/a
21	BACH1	chr19:45257993-45258161	K562	blood:	n/a	n/a
22	BACH1	chr19:45260872-45261166	H1-hESC	embryonic stem cell:	n/a	n/a
23	BATF	chr19:45256497-45256926	GM12878	blood:	n/a	n/a
24	BCL11A	chr19:45256477-45256986	GM12878	blood:	n/a	chr19:45256704-45256713 chr19:45256705-45256714
25	BCL11A	chr19:45256529-45256919	GM12878	blood:	n/a	chr19:45256704-45256713 chr19:45256705-45256714
26	BCL3	chr19:45265227-45266611	A549	lung:	n/a	n/a
27	BCL3	chr19:45255624-45257069	A549	lung:	n/a	chr19:45256704-45256713 chr19:45256705-45256714
28	BCL3	chr19:45273622-45274472	A549	lung:	n/a	n/a
29	BCL3	chr19:45256434-45257048	GM12878	blood:	n/a	chr19:45256704-45256713 chr19:45256705-45256714
30	BCL3	chr19:45253968-45254982	A549	lung:	n/a	n/a
31	BCL3	chr19:45259022-45259564	A549	lung:	n/a	n/a
32	BCL3	chr19:45248078-45253687	A549	lung:	n/a	chr19:45248561-45248574 chr19:45250739-45250752 chr19:45248567-45248580 chr19:45250771-45250780
33	BCL3	chr19:45268092-45268700	A549	lung:	n/a	n/a
34	BCL3	chr19:45277350-45278047	A549	lung:	n/a	n/a
35	BCL3	chr19:45278872-45279212	GM12878	blood:	n/a	n/a
36	BCL3	chr19:45266195-45266689	A549	lung:	n/a	n/a
37	BCL3	chr19:45247680-45253680	A549	lung:	n/a	chr19:45248561-45248574 chr19:45250739-45250752 chr19:45248567-45248580 chr19:45250771-45250780
38	BCL3	chr19:45257076-45258876	A549	lung:	n/a	chr19:45257647-45257656 chr19:45257425-45257434 chr19:45257350-45257358
39	BCL3	chr19:45255618-45257073	A549	lung:	n/a	chr19:45256704-45256713 chr19:45256705-45256714
40	BCL3	chr19:45256544-45256981	GM12878	blood:	n/a	chr19:45256704-45256713 chr19:45256705-45256714
41	BCL3	chr19:45287371-45287952	A549	lung:	n/a	n/a
42	BCL3	chr19:45257095-45258496	A549	lung:	n/a	chr19:45257647-45257656 chr19:45257425-45257434 chr19:45257350-45257358
43	BCL3	chr19:45268158-45269363	A549	lung:	n/a	n/a
44	BCL3	chr19:45259039-45259593	A549	lung:	n/a	n/a
45	BCLAF1	chr19:45255974-45257036	GM12878	blood:	n/a	chr19:45256704-45256713 chr19:45256705-45256714
46	BCLAF1	chr19:45273660-45274356	GM12878	blood:	n/a	n/a
47	BCLAF1	chr19:45256342-45257016	GM12878	blood:	n/a	chr19:45256704-45256713 chr19:45256705-45256714
48	BCLAF1	chr19:45273727-45274262	GM12878	blood:	n/a	n/a
49	BHLHE40	chr19:45257496-45257538	K562	blood:	n/a	n/a
50	BHLHE40	chr19:45280988-45281239	HepG2	liver:	n/a	n/a

(count:1525 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:45257704-45257754	NHDF-neo	bronchial:	n/a
2	chr19:45281284-45281334	ECC-1	luminal epithelium:	n/a
3	chr19:45264376-45264426	ovcar-3	ovarian:	n/a
4	chr19:45255796-45255846	IMR90	lung:	fetal
5	chr19:45260935-45260985	Caco-2	colon:	n/a
6	chr19:45281140-45281190	GM12891	blood:	n/a
7	chr19:45281287-45281337	HIPEpiC	eye:	n/a
8	chr19:45264376-45264426	IMR90	lung:	fetal
9	chr19:45262055-45262105	T-47D	breast:	n/a
10	chr19:45281006-45281056	RPTEC	kidney:	n/a
11	chr19:45261004-45261054	HCPEpiC	choroid plexus:	n/a
12	chr19:45281006-45281056	SK-N-MC	brain:	n/a
13	chr19:45281287-45281337	GM06990	blood:	n/a
14	chr19:45279765-45279815	SK-N-SH	brain:	n/a
15	chr19:45261004-45261054	GM12892	blood:	n/a
16	chr19:45284273-45284323	HRPEpiC	eye:	n/a
17	chr19:45261808-45261858	U87	brain:	n/a
18	chr19:45260501-45260551	BJ	skin:	n/a
19	chr19:45281526-45281576	MCF10A-Er-Src	breast:	n/a
20	chr19:45259535-45259585	MCF10A-Er-Src	breast:	n/a
21	chr19:45262982-45263032	SK-N-SH_RA	brain:	n/a
22	chr19:45257704-45257754	HCPEpiC	choroid plexus:	n/a
23	chr19:45279765-45279815	HIPEpiC	eye:	n/a
24	chr19:45259535-45259585	HRPEpiC	eye:	n/a
25	chr19:45261004-45261054	IMR90	lung:	fetal
26	chr19:45257704-45257754	AG09319	gingival:	n/a
27	chr19:45264376-45264426	HNPCEpiC	eye:	n/a
28	chr19:45281006-45281056	MCF10A-Er-Src	breast:	n/a
29	chr19:45260278-45260328	HNPCEpiC	eye:	n/a
30	chr19:45260278-45260328	SKMC	muscle:	n/a
31	chr19:45280184-45280234	Hela-S3	cervix:	n/a
32	chr19:45260353-45260403	HCPEpiC	choroid plexus:	n/a
33	chr19:45260353-45260403	GM19239	blood:	n/a
34	chr19:45261808-45261858	NB4	blood:	n/a
35	chr19:45261004-45261054	AG09319	gingival:	n/a
36	chr19:45280184-45280234	HPAEpiC	pulmonary alveolar:	n/a
37	chr19:45277372-45277422	AoSMC	blood vessel:	n/a
38	chr19:45260353-45260403	ECC-1	luminal epithelium:	n/a
39	chr19:45277372-45277422	BJ	skin:	n/a
40	chr19:45281287-45281337	HCF	heart:	n/a
41	chr19:45255796-45255846	SK-N-SH_RA	brain:	n/a
42	chr19:45262055-45262105	LNCaP	prostate:	n/a
43	chr19:45255796-45255846	HL-60	blood:	n/a
44	chr19:45257305-45257355	MCF-7	breast:	n/a
45	chr19:45281236-45281286	NHDF-neo	bronchial:	n/a
46	chr19:45260353-45260403	AG09319	gingival:	n/a
47	chr19:45260278-45260328	ECC-1	luminal epithelium:	n/a
48	chr19:45262982-45263032	PANC-1	pancreas:	n/a
49	chr19:45257704-45257754	K562	blood:	n/a
50	chr19:45257305-45257355	GM12878	blood:	n/a

(count:81 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:45226703..45228104-chr19:45273383..45274589,15	K562	blood:
2	chr19:45290807..45292889-chr19:45333914..45335554,2	MCF-7	breast:
3	chr19:45256205..45258208-chr19:45271717..45275602,4	MCF-7	breast:
4	chr19:45225838..45229249-chr19:45276158..45277958,4	MCF-7	breast:
5	chr19:45265440..45267901-chr19:45272381..45274040,2	MCF-7	breast:
6	chr19:45150946..45153817-chr19:45251773..45254167,2	MCF-7	breast:
7	chr19:45265783..45267838-chr19:45269587..45271373,2	MCF-7	breast:
8	chr19:45195689..45197488-chr19:45256706..45258285,2	MCF-7	breast:
9	chr19:45279883..45281383-chr3:73159089..73161448,2	K562	blood:
10	chr19:45224693..45226623-chr19:45263139..45265924,2	K562	blood:
11	chr19:45286998..45288262-chr19:45347249..45348390,5	K562	blood:
12	chr19:45286351..45289401-chr19:45345776..45349502,3	MCF-7	breast:
13	chr19:45252053..45254233-chr19:45351379..45354120,2	MCF-7	breast:
14	chr19:45277487..45279729-chr19:45347868..45349723,2	MCF-7	breast:
15	chr19:45272814..45275613-chr19:45349075..45351767,2	MCF-7	breast:
16	chr19:45226820..45228125-chr19:45273429..45274209,3	MCF-7	breast:
17	chr19:45157796..45158369-chr19:45273853..45274427,3	K562	blood:
18	chr19:45255603..45258955-chr19:45346335..45350986,5	MCF-7	breast:
19	chr19:45192156..45193086-chr19:45273620..45274583,10	K562	blood:
20	chr19:45244086..45247886-chr19:45254876..45256709,3	K562	blood:
21	chr19:45251797..45254336-chr19:45349633..45353327,3	K562	blood:
22	chr19:45287770..45288304-chr19:45303491..45304251,2	MCF-7	breast:
23	chr19:45250646..45253385-chr19:45348787..45352398,5	MCF-7	breast:
24	chr19:45157422..45158324-chr19:45273905..45274551,3	MCF-7	breast:
25	chr19:45249129..45253567-chr19:45309146..45313529,6	MCF-7	breast:
26	chr19:45297303..45299593-chr19:45300939..45303324,2	K562	blood:
27	chr19:45272520..45274417-chr19:45347142..45349262,2	K562	blood:
28	chr19:45278064..45280964-chr19:45349488..45352532,3	MCF-7	breast:
29	chr19:45256352..45257144-chr6:20402780..20403436,2	Hela-S3	cervix:
30	chr19:45287310..45287945-chr19:45347854..45348634,4	MCF-7	breast:
31	chr19:45164861..45166953-chr19:45250378..45253353,2	MCF-7	breast:
32	chr19:45197818..45200393-chr19:45265561..45267950,2	MCF-7	breast:
33	chr19:45254389..45256998-chr19:45273994..45275496,2	K562	blood:
34	chr19:45287570..45291482-chr19:45293170..45295961,3	K562	blood:
35	chr19:45273370..45275645-chr19:45276105..45281205,5	MCF-7	breast:
36	chr19:45277810..45280600-chr19:45310586..45313128,4	MCF-7	breast:
37	chr19:45193565..45195251-chr19:45256112..45257694,2	MCF-7	breast:
38	chr19:45295095..45297588-chr19:45298056..45300594,2	MCF-7	breast:
39	chr19:45175686..45178014-chr19:45252899..45254725,2	MCF-7	breast:
40	chr19:45273930..45275465-chr19:45280703..45282980,2	MCF-7	breast:
41	chr19:45197381..45199585-chr19:45286324..45287857,2	K562	blood:
42	chr19:45222394..45233722-chr19:45248498..45258065,33	MCF-7	breast:
43	chr19:45257517..45259556-chr19:45394208..45396882,2	K562	blood:
44	chr19:45257050..45259569-chr19:45349119..45350846,2	K562	blood:
45	chr19:45278333..45280712-chr19:45358913..45361396,2	MCF-7	breast:
46	chr18:19283987..19284908-chr19:45254346..45255169,2	Hela-S3	cervix:
47	chr19:45250785..45254453-chr19:45309921..45313662,4	MCF-7	breast:
48	chr12:51477212..51477747-chr19:45256177..45256901,2	Hela-S3	cervix:
49	chr19:45269215..45271091-chr19:45272154..45274116,3	MCF-7	breast:
50	chr19:45265440..45267901-chr19:45272381..45274040,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BCL3-2	chr19:45265341-45265782	NONHSAT066721
2	lnc-BCL3-3	chr19:45266402-45266622	NONHSAT066722

miRNA name	Chromosome Location	mirBase accession
hsa-miR-8085	chr19:45261924-45261944	MIMAT0031012

No data

Variant related genes	Relation type
CBLC	TF binding region
ENSG00000253027	TF binding region
ENSG00000236807	TF binding region
BCL3	TF binding region
CBLC	CpG island
ENSG00000253027	CpG island
ENSG00000236807	CpG island
BCL3	CpG island
ENSG00000142273	chromatin interactions
ENSG00000158201	chromatin interactions
ENSG00000069399	chromatin interactions
ENSG00000130202	chromatin interactions
ENSG00000187244	chromatin interactions
ENSG00000110925	chromatin interactions
ENSG00000130204	chromatin interactions
ENSG00000213892	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000073008	chromatin interactions
ENSG00000186567	chromatin interactions
ENSG00000252200	chromatin interactions
ENSG00000188825	chromatin interactions

Extended variants
information (count: 1946 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1946 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111849864	chr19:45253273-45253274	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs538050958	chr19:45253312-45253313	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs557557897	chr19:45253329-45253330	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs112511144	chr19:45253348-45253349	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs569221144	chr19:45253395-45253396	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs10401176	chr19:45253491-45253492	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs112949028	chr19:45253540-45253541	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs10629382	chr19:45253542-45253543	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs34032103	chr19:45253543-45253544	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs3065421	chr19:45253553-45253554	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs113200603	chr19:45253554-45253555	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs8100197	chr19:45253582-45253583	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs542866614	chr19:45253588-45253589	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs80140611	chr19:45253597-45253598	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs66586168	chr19:45253612-45253613	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs576554200	chr19:45253624-45253625	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs2086050	chr19:45253625-45253626	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs565215008	chr19:45253642-45253643	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs527821306	chr19:45253678-45253679	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs547925776	chr19:45253681-45253682	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs561236333	chr19:45253722-45253723	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs183594759	chr19:45253798-45253799	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs549254652	chr19:45253799-45253800	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs569214587	chr19:45253803-45253804	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs368612543	chr19:45253838-45253839	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs531401756	chr19:45253852-45253853	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs150559046	chr19:45253860-45253861	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs188342569	chr19:45253918-45253919	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs533858243	chr19:45253922-45253923	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs80153962	chr19:45253970-45253971	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs71364505	chr19:45253972-45253973	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs139552723	chr19:45253975-45253976	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs566882111	chr19:45253984-45253985	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs57387437	chr19:45253989-45253990	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs2965129	chr19:45254002-45254003	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs9789275	chr19:45254019-45254020	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs556439878	chr19:45254025-45254026	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs372674793	chr19:45254051-45254052	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs8103315	chr19:45254168-45254169	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs566307042	chr19:45254267-45254268	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs545258044	chr19:45254308-45254309	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs559075728	chr19:45254327-45254328	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs572572796	chr19:45254396-45254397	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs147418148	chr19:45254422-45254423	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs374342675	chr19:45254423-45254424	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs561374882	chr19:45254435-45254436	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs376918851	chr19:45254441-45254442	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs372734121	chr19:45254443-45254444	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs530103933	chr19:45254452-45254453	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs377373960	chr19:45254453-45254454	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Cancer	20164920	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Adrenocortical carcinoma	18281524	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Muscular dystrophy	17160897	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2344 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45250400-45254000	Active TSS	Sigmoid Colon	Sigmoid Colon
2	chr19:45250600-45253400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:45250600-45253400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr19:45251000-45253400	Active TSS	Small Intestine	intestine
5	chr19:45251600-45253800	Active TSS	NHDF-Ad	bronchial
6	chr19:45251600-45254800	Active TSS	Brain Hippocampus Middle	brain
7	chr19:45252000-45254200	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr19:45252200-45253400	Bivalent Enhancer	Fetal Brain Male	brain
9	chr19:45252200-45253400	Active TSS	Stomach Mucosa	stomach
10	chr19:45252200-45255000	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr19:45252400-45253400	Flanking Active TSS	Primary B cells from peripheral blood	blood
12	chr19:45252400-45253400	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr19:45252400-45253400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr19:45252400-45253400	Flanking Active TSS	Fetal Muscle Leg	muscle
15	chr19:45252400-45253600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr19:45252400-45253600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr19:45252400-45254000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr19:45252400-45254200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr19:45252600-45253400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr19:45252600-45253400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr19:45252600-45253400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr19:45252600-45253400	Flanking Active TSS	HepG2	liver
23	chr19:45252600-45253400	Flanking Active TSS	HUVEC	blood vessel
24	chr19:45252600-45253600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr19:45252600-45253600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr19:45252600-45253600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr19:45252600-45253600	Flanking Active TSS	Colon Smooth Muscle	Colon
28	chr19:45252600-45253600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr19:45252600-45253600	Flanking Active TSS	Rectal Smooth Muscle	rectum
30	chr19:45252600-45254000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr19:45252600-45254000	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr19:45252800-45253400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr19:45252800-45253400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr19:45252800-45253400	Enhancers	Fetal Heart	heart
35	chr19:45252800-45253400	Flanking Active TSS	HMEC	breast
36	chr19:45252800-45253400	Flanking Active TSS	HSMMtube	muscle
37	chr19:45252800-45253600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:45252800-45253600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr19:45252800-45253600	Flanking Active TSS	Psoas Muscle	Psoas
40	chr19:45252800-45254000	Flanking Active TSS	Colonic Mucosa	Colon
41	chr19:45252800-45254200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr19:45252800-45254400	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr19:45252800-45254800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
44	chr19:45252800-45256200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr19:45253000-45253400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr19:45253000-45253400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr19:45253000-45253400	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr19:45253000-45253400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr19:45253000-45253400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr19:45253000-45253400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus

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