Variant report

Variant	esv1797942
Chromosome Location	chr19:41256581-41257816
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:680)
CpG islands
(count:610)
Chromatin interactive
region (count:45)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:680 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:41256050-41257940	HepG2	liver:	n/a	chr19:41256721-41256736
2	ATF1	chr19:41256094-41257284	K562	blood:	n/a	n/a
3	ATF2	chr19:41255892-41256641	GM12878	blood:	n/a	n/a
4	ATF2	chr19:41255823-41257952	GM12878	blood:	n/a	n/a
5	ATF2	chr19:41256131-41256627	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr19:41256978-41257335	GM12878	blood:	n/a	n/a
7	ATF2	chr19:41257289-41257798	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr19:41257448-41257834	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr19:41257341-41257843	GM12878	blood:	n/a	n/a
10	ATF2	chr19:41256113-41256617	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr19:41256202-41256737	HepG2	liver:	n/a	chr19:41256462-41256471
12	ATF3	chr19:41256125-41256653	GM12878	blood:	n/a	chr19:41256462-41256471
13	ATF3	chr19:41256306-41256611	H1-hESC	embryonic stem cell:	n/a	chr19:41256462-41256471
14	ATF3	chr19:41255781-41257908	A549	lung:	n/a	chr19:41256462-41256471
15	ATF3	chr19:41256981-41257261	K562	blood:	n/a	n/a
16	ATF3	chr19:41256068-41257967	A549	lung:	n/a	chr19:41256462-41256471
17	ATF3	chr19:41256142-41256695	H1-hESC	embryonic stem cell:	n/a	chr19:41256462-41256471
18	ATF3	chr19:41256270-41256591	K562	blood:	n/a	chr19:41256462-41256471
19	BACH1	chr19:41256144-41256897	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr19:41257124-41257448	K562	blood:	n/a	n/a
21	BCL3	chr19:41255259-41258065	A549	lung:	n/a	n/a
22	BCL3	chr19:41255714-41258003	A549	lung:	n/a	n/a
23	BCLAF1	chr19:41255901-41257958	GM12878	blood:	n/a	n/a
24	BCLAF1	chr19:41256700-41258024	GM12878	blood:	n/a	n/a
25	BCLAF1	chr19:41256718-41257915	K562	blood:	n/a	n/a
26	BHLHE40	chr19:41256214-41257901	GM12878	blood:	n/a	chr19:41256462-41256471 chr19:41256463-41256472 chr19:41256456-41256477 chr19:41256460-41256473 chr19:41256462-41256471
27	BHLHE40	chr19:41256150-41257700	HepG2	liver:	n/a	chr19:41256462-41256471 chr19:41256463-41256472 chr19:41256456-41256477 chr19:41256460-41256473 chr19:41256462-41256471
28	BHLHE40	chr19:41255391-41257820	K562	blood:	n/a	chr19:41256462-41256471 chr19:41256463-41256472 chr19:41256456-41256477 chr19:41256460-41256473 chr19:41256462-41256471
29	BRCA1	chr19:41255650-41257884	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr19:41256229-41257341	HepG2	liver:	n/a	n/a
31	BRCA1	chr19:41256169-41257292	H1-hESC	embryonic stem cell:	n/a	n/a
32	BRCA1	chr19:41256228-41257490	GM12878	blood:	n/a	n/a
33	CBX3	chr19:41255904-41257969	K562	blood:	n/a	n/a
34	CCNT2	chr19:41256233-41257145	K562	blood:	n/a	n/a
35	CEBPB	chr19:41255928-41257222	Hela-S3	cervix:	n/a	chr19:41256736-41256744
36	CEBPB	chr19:41255861-41256846	A549	lung:	n/a	chr19:41256736-41256744
37	CEBPB	chr19:41255999-41256871	K562	blood:	n/a	chr19:41256736-41256744
38	CEBPB	chr19:41256268-41256742	IMR90	lung:	n/a	n/a
39	CEBPB	chr19:41257149-41257341	K562	blood:	n/a	n/a
40	CEBPB	chr19:41255936-41257819	GM12878	blood:	n/a	chr19:41256736-41256744
41	CEBPB	chr19:41255988-41256898	K562	blood:	n/a	chr19:41256736-41256744
42	CEBPD	chr19:41256609-41257869	K562	blood:	n/a	n/a
43	CEBPD	chr19:41256048-41256607	K562	blood:	n/a	n/a
44	CEBPZ	chr19:41256484-41257258	HepG2	liver:	n/a	n/a
45	CHD1	chr19:41256753-41257967	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD1	chr19:41256876-41257899	GM12878	blood:	n/a	n/a
47	CHD2	chr19:41256174-41257860	K562	blood:	n/a	n/a
48	CHD2	chr19:41256118-41257751	HepG2	liver:	n/a	n/a
49	CHD2	chr19:41255816-41257871	GM12878	blood:	n/a	n/a
50	CHD2	chr19:41255857-41257825	Hela-S3	cervix:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:41257673-41257723	PANC-1	pancreas:	n/a
2	chr19:41257233-41257283	IMR90	lung:	fetal
3	chr19:41256647-41256697	SAEC	small airway:	n/a
4	chr19:41256913-41256963	HCM	heart:	n/a
5	chr19:41256647-41256697	NT2-D1	testis:	n/a
6	chr19:41256731-41256781	HNPCEpiC	eye:	n/a
7	chr19:41256729-41256779	Hela-S3	cervix:	n/a
8	chr19:41256731-41256781	AG04449	skin:	fetal
9	chr19:41256913-41256963	H1-hESC	embryonic stem cell:	embryo
10	chr19:41256647-41256697	GM12892	blood:	n/a
11	chr19:41256729-41256779	SK-N-SH	brain:	n/a
12	chr19:41256913-41256963	LNCaP	prostate:	n/a
13	chr19:41256593-41256643	HEEpiC	esophagus:	n/a
14	chr19:41256647-41256697	ECC-1	luminal epithelium:	n/a
15	chr19:41257233-41257283	GM12891	blood:	n/a
16	chr19:41256913-41256963	RPTEC	kidney:	n/a
17	chr19:41256647-41256697	Jurkat	blood:	n/a
18	chr19:41257658-41257708	SKMC	muscle:	n/a
19	chr19:41256731-41256781	Caco-2	colon:	n/a
20	chr19:41257673-41257723	Jurkat	blood:	n/a
21	chr19:41256913-41256963	AoSMC	blood vessel:	n/a
22	chr19:41257673-41257723	NHBE	bronchial:	n/a
23	chr19:41256593-41256643	BE2_C	brain:	n/a
24	chr19:41256731-41256781	AG10803	skin:	n/a
25	chr19:41257673-41257723	NB4	blood:	n/a
26	chr19:41257673-41257723	HIPEpiC	eye:	n/a
27	chr19:41256731-41256781	HCT-116	colon:	n/a
28	chr19:41257658-41257708	GM12892	blood:	n/a
29	chr19:41256647-41256697	PANC-1	pancreas:	n/a
30	chr19:41256593-41256643	HRCEpiC	kidney:	n/a
31	chr19:41257658-41257708	NHDF-neo	bronchial:	n/a
32	chr19:41257658-41257708	BJ	skin:	n/a
33	chr19:41256647-41256697	GM12891	blood:	n/a
34	chr19:41257658-41257708	ovcar-3	ovarian:	n/a
35	chr19:41256731-41256781	CMK	blood:	n/a
36	chr19:41256647-41256697	H1-hESC	embryonic stem cell:	embryo
37	chr19:41256913-41256963	NHBE	bronchial:	n/a
38	chr19:41256729-41256779	CMK	blood:	n/a
39	chr19:41257233-41257283	HUVEC	blood vessel:	n/a
40	chr19:41257423-41257473	SAEC	small airway:	n/a
41	chr19:41257673-41257723	GM12878	blood:	n/a
42	chr19:41257423-41257473	U87	brain:	n/a
43	chr19:41257658-41257708	Jurkat	blood:	n/a
44	chr19:41256913-41256963	BE2_C	brain:	n/a
45	chr19:41256723-41256773	HCT-116	colon:	n/a
46	chr19:41257233-41257283	SAEC	small airway:	n/a
47	chr19:41257658-41257708	GM19239	blood:	n/a
48	chr19:41257673-41257723	Hela-S3	cervix:	n/a
49	chr19:41256647-41256697	ProgFib	skin:	n/a
50	chr19:41256593-41256643	HAEpiC	amniotic membrane:	n/a

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41254259..41259402-chr19:41281476..41286314,17	K562	blood:
2	chr19:41253829..41256175-chr19:41256460..41259109,2	K562	blood:
3	chr19:41253887..41263110-chr19:41303366..41316425,33	K562	blood:
4	chr12:112450574..112451117-chr19:41256663..41257549,2	Hela-S3	cervix:
5	chr19:41256585..41257400-chrX:47003961..47004547,2	Hela-S3	cervix:
6	chr19:41254259..41260312-chr19:41280225..41287427,15	K562	blood:
7	chr19:41194676..41198444-chr19:41254531..41258137,9	MCF-7	breast:
8	chr1:168194461..168195352-chr19:41256585..41257216,2	Hela-S3	cervix:
9	chr19:41255216..41257049-chr19:41286171..41288357,2	MCF-7	breast:
10	chr19:41253800..41258892-chr19:41281807..41286457,14	MCF-7	breast:
11	chr19:41206945..41208497-chr19:41254996..41257251,2	K562	blood:
12	chr19:41222057..41222984-chr19:41256051..41256852,2	MCF-7	breast:
13	chr19:41219625..41226874-chr19:41252287..41258959,29	MCF-7	breast:
14	chr19:41194241..41198233-chr19:41254859..41260401,9	K562	blood:
15	chr11:65190254..65190996-chr19:41257060..41258041,2	Hela-S3	cervix:
16	chr1:67895816..67896491-chr19:41256613..41257218,2	Hela-S3	cervix:
17	chr19:41254354..41258983-chr19:41282435..41286100,11	MCF-7	breast:
18	chr19:41253320..41258890-chr19:41311950..41315573,6	MCF-7	breast:
19	chr11:64655526..64656047-chr19:41256811..41257624,2	HCT-116	colon:
20	chr19:41191561..41193487-chr19:41256304..41257809,2	K562	blood:
21	chr19:41254948..41257942-chr19:41767479..41769277,2	MCF-7	breast:
22	chr19:41219701..41225554-chr19:41255271..41259667,13	K562	blood:
23	chr19:41256382..41257161-chr5:41869993..41870560,2	Hela-S3	cervix:
24	chr19:41256161..41256925-chrX:47053141..47053776,2	Hela-S3	cervix:
25	chr15:78857354..78857892-chr19:41256509..41257119,2	Hela-S3	cervix:
26	chr19:41219350..41226574-chr19:41253922..41258567,22	MCF-7	breast:
27	chr19:41256697..41257243-chr4:123747746..123748430,2	Hela-S3	cervix:
28	chr19:41082129..41084725-chr19:41255576..41257148,2	K562	blood:
29	chr19:41256532..41257075-chr6:89790952..89791917,2	Hela-S3	cervix:
30	chr11:118661571..118662155-chr19:41256440..41257210,2	Hela-S3	cervix:
31	chr19:41194241..41200533-chr19:41254244..41257966,10	K562	blood:
32	chr19:41246355..41251647-chr19:41252986..41257062,8	MCF-7	breast:
33	chr19:41256649..41257247-chr2:27579653..27580386,2	Hela-S3	cervix:
34	chr1:17230852..17231401-chr19:41256499..41257383,2	Hela-S3	cervix:
35	chr19:41219701..41226727-chr19:41253156..41258804,17	K562	blood:
36	chr19:41256515..41257161-chr4:17812010..17812678,2	Hela-S3	cervix:
37	chr19:41256674..41257213-chr20:44509559..44510132,2	Hela-S3	cervix:
38	chr19:41253175..41255589-chr19:41255801..41257660,2	MCF-7	breast:
39	chr19:41256511..41257371-chr2:86332897..86333795,2	Hela-S3	cervix:
40	chr19:41256565..41257275-chr21:34696582..34697135,2	Hela-S3	cervix:
41	chr19:41253776..41259894-chr19:41301950..41310086,19	MCF-7	breast:
42	chr19:41081293..41083629-chr19:41254991..41257076,2	K562	blood:
43	chr19:41254487..41259247-chr19:41302579..41309995,18	K562	blood:
44	chr19:41191987..41193561-chr19:41255476..41257809,2	K562	blood:
45	chr19:41254272..41257133-chr19:41310784..41312768,2	MCF-7	breast:

No data

Variant related genes	Relation type
C19orf54	TF binding region
SNRPA	TF binding region
C19orf54	CpG island
SNRPA	CpG island
ENSG00000105323	chromatin interactions
ENSG00000268797	chromatin interactions
ENSG00000182872	chromatin interactions
ENSG00000272426	chromatin interactions
ENSG00000110047	chromatin interactions
ENSG00000130985	chromatin interactions
ENSG00000068654	chromatin interactions
ENSG00000269858	chromatin interactions
ENSG00000110367	chromatin interactions
ENSG00000115207	chromatin interactions
ENSG00000253069	chromatin interactions
ENSG00000146278	chromatin interactions
ENSG00000086544	chromatin interactions
ENSG00000147123	chromatin interactions
ENSG00000198270	chromatin interactions
ENSG00000169684	chromatin interactions
ENSG00000109805	chromatin interactions
ENSG00000132300	chromatin interactions
ENSG00000171570	chromatin interactions
ENSG00000123815	chromatin interactions
ENSG00000234072	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000142166	chromatin interactions
ENSG00000163257	chromatin interactions
ENSG00000213064	chromatin interactions
ENSG00000160410	chromatin interactions
ENSG00000261857	chromatin interactions
ENSG00000142864	chromatin interactions
ENSG00000248668	chromatin interactions
ENSG00000138685	chromatin interactions
ENSG00000105245	chromatin interactions
ENSG00000167578	chromatin interactions
ENSG00000188493	chromatin interactions
ENSG00000168612	chromatin interactions

Extended variants
information (count: 56 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547783883	chr19:41256604-41256605	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
2	rs540214636	chr19:41256618-41256619	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
3	rs141612778	chr19:41256697-41256698	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
4	rs147143546	chr19:41256712-41256713	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
5	rs552745261	chr19:41256753-41256754	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
6	rs192585880	chr19:41256770-41256771	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
7	rs185581242	chr19:41256813-41256814	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
8	rs552770266	chr19:41256814-41256815	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
9	rs16974492	chr19:41256830-41256831	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
10	rs376964186	chr19:41256836-41256837	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
11	rs111978082	chr19:41256844-41256845	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
12	rs556509676	chr19:41256893-41256894	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
13	rs575181971	chr19:41256914-41256915	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
14	rs545741102	chr19:41256934-41256935	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
15	rs557973182	chr19:41257039-41257040	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
16	rs1455434	chr19:41257046-41257047	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	34 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs377665450	chr19:41257073-41257074	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
18	rs370874353	chr19:41257098-41257099	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
19	rs182084754	chr19:41257112-41257113	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
20	rs530185039	chr19:41257135-41257136	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
21	rs570655182	chr19:41257138-41257139	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
22	rs1457141	chr19:41257176-41257177	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	29 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs75531803	chr19:41257185-41257186	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
24	rs531273022	chr19:41257208-41257209	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
25	rs536919973	chr19:41257215-41257216	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
26	rs368523279	chr19:41257235-41257236	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
27	rs140145098	chr19:41257274-41257275	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
28	rs11558816	chr19:41257276-41257277	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
29	rs201840992	chr19:41257282-41257283	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
30	rs370795053	chr19:41257284-41257285	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
31	rs528661832	chr19:41257327-41257328	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
32	rs375774122	chr19:41257334-41257335	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
33	rs546755498	chr19:41257335-41257336	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
34	rs377659020	chr19:41257352-41257353	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
35	rs138619399	chr19:41257361-41257362	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
36	rs2607418	chr19:41257396-41257397	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs145667297	chr19:41257398-41257399	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
38	rs556550378	chr19:41257406-41257407	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs115762627	chr19:41257416-41257417	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs77758833	chr19:41257423-41257424	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
41	rs557748417	chr19:41257445-41257446	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
42	rs184469096	chr19:41257493-41257494	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
43	rs560808287	chr19:41257497-41257498	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
44	rs533293272	chr19:41257550-41257551	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs112768145	chr19:41257567-41257568	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
46	rs540071469	chr19:41257590-41257591	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
47	rs188861343	chr19:41257592-41257593	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs574993577	chr19:41257625-41257626	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs112741789	chr19:41257643-41257644	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs542330120	chr19:41257644-41257645	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:190 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41254600-41259200	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr19:41255400-41258200	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr19:41255400-41258200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr19:41255400-41258600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr19:41255400-41258600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:41255600-41258000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr19:41255600-41258200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:41255600-41258600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:41255600-41258800	Active TSS	Gastric	stomach
10	chr19:41255600-41259000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr19:41255800-41256800	Weak transcription	Small Intestine	intestine
12	chr19:41255800-41257400	Active TSS	Dnd41	blood
13	chr19:41255800-41258400	Active TSS	H1 Cell Line	embryonic stem cell
14	chr19:41255800-41258400	Active TSS	Fetal Kidney	kidney
15	chr19:41255800-41258600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:41255800-41258600	Active TSS	Esophagus	oesophagus
17	chr19:41255800-41258600	Active TSS	GM12878-XiMat	blood
18	chr19:41255800-41258800	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr19:41255800-41258800	Active TSS	Right Ventricle	heart
20	chr19:41255800-41259000	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr19:41256000-41257600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:41256000-41257600	Active TSS	Brain Substantia Nigra	brain
23	chr19:41256000-41257600	Active TSS	Fetal Muscle Trunk	muscle
24	chr19:41256000-41257600	Active TSS	Placenta Amnion	Placenta Amnion
25	chr19:41256000-41257600	Active TSS	Rectal Smooth Muscle	rectum
26	chr19:41256000-41257800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr19:41256000-41258000	Active TSS	Aorta	Aorta
28	chr19:41256000-41258000	Active TSS	Left Ventricle	heart
29	chr19:41256000-41258000	Active TSS	Spleen	Spleen
30	chr19:41256000-41258200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr19:41256000-41258200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr19:41256000-41258200	Active TSS	Liver	Liver
33	chr19:41256000-41258200	Active TSS	Lung	lung
34	chr19:41256000-41258200	Active TSS	Psoas Muscle	Psoas
35	chr19:41256000-41258400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:41256000-41258400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr19:41256000-41258400	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr19:41256000-41258600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr19:41256000-41258600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr19:41256000-41258600	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr19:41256000-41258600	Active TSS	Ovary	ovary
42	chr19:41256000-41258600	Active TSS	Pancreas	Pancrea
43	chr19:41256000-41258600	Active TSS	HSMM	muscle
44	chr19:41256000-41258800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr19:41256000-41258800	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr19:41256200-41257000	Active TSS	Primary B cells from cord blood	blood
47	chr19:41256200-41257200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr19:41256200-41257200	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr19:41256200-41257200	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr19:41256200-41257200	Active TSS	HepG2	liver

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