Variant report

Variant	esv3311131
Chromosome Location	chr15:41851466-41853360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr15:41852468-41852823	GM12878	blood:	n/a	n/a
2	CCNT2	chr15:41850900-41851648	K562	blood:	n/a	n/a
3	CEBPD	chr15:41851191-41851581	HepG2	liver:	n/a	n/a
4	CHD2	chr15:41851747-41851822	K562	blood:	n/a	n/a
5	CHD2	chr15:41851722-41851922	Hela-S3	cervix:	n/a	n/a
6	CREB1	chr15:41850970-41851637	K562	blood:	n/a	n/a
7	CTCF	chr15:41849563-41851582	SK-N-SH	brain:	n/a	chr15:41849950-41849966 chr15:41850174-41850192 chr15:41850060-41850073 chr15:41849949-41849962 chr15:41849949-41849967 chr15:41849962-41849975 chr15:41851122-41851135 chr15:41849952-41849965 chr15:41850180-41850189 chr15:41851159-41851172
8	CTCF	chr15:41851360-41851510	GM12874	blood:	n/a	n/a
9	CTCF	chr15:41853080-41853230	BE2_C	brain:	n/a	n/a
10	CTCF	chr15:41853360-41853510	HBMEC	blood vessel:	n/a	n/a
11	CTCF	chr15:41852380-41852530	AG04449	skin:	n/a	n/a
12	CTCF	chr15:41853302-41853664	K562	blood:	n/a	n/a
13	E2F1	chr15:41850998-41851996	Hela-S3	cervix:	n/a	chr15:41851864-41851871 chr15:41851864-41851871 chr15:41851863-41851872 chr15:41851863-41851871 chr15:41851864-41851871 chr15:41851863-41851875
14	E2F4	chr15:41850960-41852009	K562	blood:	n/a	chr15:41851864-41851871 chr15:41851864-41851871 chr15:41851863-41851872 chr15:41851863-41851871 chr15:41851864-41851871 chr15:41851863-41851875
15	E2F6	chr15:41851342-41851632	K562	blood:	n/a	n/a
16	E2F6	chr15:41851108-41852028	K562	blood:	n/a	chr15:41851864-41851871 chr15:41851864-41851871 chr15:41851863-41851872 chr15:41851863-41851871 chr15:41851864-41851871 chr15:41851863-41851875
17	E2F6	chr15:41851229-41852102	H1-hESC	embryonic stem cell:	n/a	chr15:41851864-41851871 chr15:41851864-41851871 chr15:41851863-41851872 chr15:41851863-41851871 chr15:41851864-41851871 chr15:41851863-41851875
18	E2F6	chr15:41851046-41851956	K562	blood:	n/a	chr15:41851864-41851871 chr15:41851864-41851871 chr15:41851863-41851872 chr15:41851863-41851871 chr15:41851864-41851871 chr15:41851863-41851875
19	ETS1	chr15:41851047-41851596	K562	blood:	n/a	chr15:41851126-41851137
20	FOXP2	chr15:41851060-41851571	PFSK-1	brain:	n/a	n/a
21	HA-E2F1	chr15:41850909-41852029	Hela-S3	cervix:	n/a	chr15:41851864-41851871 chr15:41851864-41851871 chr15:41851863-41851872 chr15:41851864-41851871 chr15:41851863-41851875
22	HCFC1	chr15:41851118-41851488	K562	blood:	n/a	n/a
23	HEY1	chr15:41851029-41851590	HepG2	liver:	n/a	chr15:41851123-41851138
24	HEY1	chr15:41851065-41851598	K562	blood:	n/a	chr15:41851123-41851138
25	HEY1	chr15:41851059-41851556	K562	blood:	n/a	chr15:41851123-41851138
26	HMGN3	chr15:41850933-41852038	K562	blood:	n/a	n/a
27	MAX	chr15:41851134-41851698	A549	lung:	n/a	n/a
28	MAX	chr15:41851300-41851579	A549	lung:	n/a	n/a
29	MAX	chr15:41851212-41851600	SK-N-SH	brain:	n/a	n/a
30	MAX	chr15:41851016-41851549	SK-N-SH	brain:	n/a	n/a
31	MAX	chr15:41851274-41851576	Hela-S3	cervix:	n/a	n/a
32	MAX	chr15:41850899-41852279	HepG2	liver:	n/a	n/a
33	MAX	chr15:41852019-41852186	NB4	blood:	n/a	n/a
34	MAX	chr15:41851040-41851598	K562	blood:	n/a	n/a
35	MAX	chr15:41851298-41851475	HepG2	liver:	n/a	n/a
36	MAX	chr15:41852040-41852044	K562	blood:	n/a	n/a
37	MAX	chr15:41851039-41851565	K562	blood:	n/a	n/a
38	MAX	chr15:41850931-41851935	K562	blood:	n/a	n/a
39	MAX	chr15:41852814-41852974	NB4	blood:	n/a	n/a
40	MAX	chr15:41851201-41851588	MCF-7	breast:	n/a	n/a
41	MAX	chr15:41850768-41851701	ECC-1	luminal epithelium:	n/a	n/a
42	MAZ	chr15:41850683-41852047	K562	blood:	n/a	n/a
43	MAZ	chr15:41851212-41851557	GM12878	blood:	n/a	n/a
44	MAZ	chr15:41850641-41852227	Hela-S3	cervix:	n/a	n/a
45	MAZ	chr15:41851690-41851855	HepG2	liver:	n/a	n/a
46	MAZ	chr15:41850922-41851481	HepG2	liver:	n/a	n/a
47	MAZ	chr15:41849715-41852326	IMR90	lung:	n/a	n/a
48	MAZ	chr15:41851984-41852002	GM12878	blood:	n/a	n/a
49	MXI1	chr15:41849639-41852553	SK-N-SH	brain:	n/a	chr15:41851314-41851329
50	MXI1	chr15:41851361-41851492	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:41851964-41852014	AG04450	lung:	fetal
2	chr15:41852638-41852688	GM12892	blood:	n/a
3	chr15:41851964-41852014	NH-A	brain:	n/a
4	chr15:41853346-41853396	PFSK-1	brain:	n/a
5	chr15:41852638-41852688	A549	lung:	n/a
6	chr15:41851964-41852014	A549	lung:	n/a
7	chr15:41852586-41852636	Jurkat	blood:	n/a
8	chr15:41851969-41852019	ovcar-3	ovarian:	n/a
9	chr15:41851969-41852019	NB4	blood:	n/a
10	chr15:41851969-41852019	HAEpiC	amniotic membrane:	n/a
11	chr15:41851969-41852019	AoSMC	blood vessel:	n/a
12	chr15:41852586-41852636	NT2-D1	testis:	n/a
13	chr15:41852586-41852636	ECC-1	luminal epithelium:	n/a
14	chr15:41852586-41852636	AG04449	skin:	fetal
15	chr15:41852638-41852688	BE2_C	brain:	n/a
16	chr15:41852586-41852636	K562	blood:	n/a
17	chr15:41853346-41853396	AG04449	skin:	fetal
18	chr15:41852586-41852636	HUVEC	blood vessel:	n/a
19	chr15:41852638-41852688	GM06990	blood:	n/a
20	chr15:41853346-41853396	GM12891	blood:	n/a
21	chr15:41852586-41852636	NHDF-neo	bronchial:	n/a
22	chr15:41852638-41852688	BJ	skin:	n/a
23	chr15:41853346-41853396	HUVEC	blood vessel:	n/a
24	chr15:41851964-41852014	HEEpiC	esophagus:	n/a
25	chr15:41851969-41852019	HRPEpiC	eye:	n/a
26	chr15:41851969-41852019	AG09319	gingival:	n/a
27	chr15:41851969-41852019	HRE	kidney:	n/a
28	chr15:41852586-41852636	HCT-116	colon:	n/a
29	chr15:41851969-41852019	H1-hESC	embryonic stem cell:	embryo
30	chr15:41851969-41852019	PFSK-1	brain:	n/a
31	chr15:41853346-41853396	Hela-S3	cervix:	n/a
32	chr15:41852586-41852636	ovcar-3	ovarian:	n/a
33	chr15:41853346-41853396	Jurkat	blood:	n/a
34	chr15:41851969-41852019	HL-60	blood:	n/a
35	chr15:41851969-41852019	SK-N-SH	brain:	n/a
36	chr15:41851964-41852014	NB4	blood:	n/a
37	chr15:41852586-41852636	U87	brain:	n/a
38	chr15:41852586-41852636	LNCaP	prostate:	n/a
39	chr15:41851969-41852019	SKMC	muscle:	n/a
40	chr15:41853346-41853396	AG09309	skin:	n/a
41	chr15:41851964-41852014	PANC-1	pancreas:	n/a
42	chr15:41851969-41852019	MCF10A-Er-Src	breast:	n/a
43	chr15:41851969-41852019	HepG2	liver:	n/a
44	chr15:41851964-41852014	HCT-116	colon:	n/a
45	chr15:41853346-41853396	RPTEC	kidney:	n/a
46	chr15:41852638-41852688	HMEC	breast:	n/a
47	chr15:41851969-41852019	GM12892	blood:	n/a
48	chr15:41852638-41852688	HIPEpiC	eye:	n/a
49	chr15:41852638-41852688	Hela-S3	cervix:	n/a
50	chr15:41851969-41852019	IMR90	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr15:41847317..41853712-chr15:41951201..41955578,8	K562	blood:
2	chr15:41851361..41854178-chr15:42065182..42067599,2	K562	blood:
3	chr15:41835713..41840265-chr15:41851401..41853463,4	K562	blood:
4	chr15:41784400..41789772-chr15:41847283..41854059,7	K562	blood:
5	chr15:41850304..41852496-chr15:41951450..41954168,2	MCF-7	breast:
6	chr15:41849459..41853162-chr15:41854225..41857161,4	MCF-7	breast:
7	chr15:41853319..41856101-chr15:41857506..41859513,2	MCF-7	breast:
8	chr15:41853024..41855719-chr15:41894877..41896959,2	K562	blood:
9	chr15:41850576..41853126-chr15:41900769..41903357,2	K562	blood:
10	chr15:41779821..41781548-chr15:41852797..41854697,2	MCF-7	breast:
11	chr15:41851029..41853126-chr15:41899971..41902269,2	K562	blood:
12	chr15:41849370..41852913-chr15:41951069..41953769,6	K562	blood:
13	chr15:41849860..41852803-chr15:41858013..41860929,2	MCF-7	breast:

Variant related genes	Relation type
TYRO3	TF binding region
TYRO3	CpG island
ENSG00000137825	chromatin interactions
ENSG00000174197	chromatin interactions
ENSG00000137802	chromatin interactions
ENSG00000103932	chromatin interactions
ENSG00000092445	chromatin interactions
ENSG00000260926	chromatin interactions

Extended variants
information (count: 59 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534867062	chr15:41851494-41851495	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs17854578	chr15:41851517-41851518	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs113721358	chr15:41851709-41851710	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	mRNA abundance
4	rs553038933	chr15:41851729-41851730	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs141669463	chr15:41851766-41851767	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs537488427	chr15:41851823-41851824	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs77916621	chr15:41851864-41851865	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs531857425	chr15:41851875-41851876	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs533671745	chr15:41851937-41851938	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs369913239	chr15:41851944-41851945	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs553796711	chr15:41851963-41851964	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs574400677	chr15:41851987-41851988	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs11632216	chr15:41851993-41851994	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs373818374	chr15:41851994-41851995	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs113990339	chr15:41852003-41852004	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs546400946	chr15:41852040-41852041	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs563223736	chr15:41852062-41852063	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs576802354	chr15:41852103-41852104	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs78489664	chr15:41852112-41852113	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs191434003	chr15:41852135-41852136	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs571640841	chr15:41852156-41852157	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs527648760	chr15:41852194-41852195	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs112904594	chr15:41852202-41852203	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs564218735	chr15:41852216-41852217	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs532220741	chr15:41852351-41852352	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs551943127	chr15:41852362-41852363	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs568669379	chr15:41852373-41852374	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs538214128	chr15:41852390-41852391	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs531511983	chr15:41852426-41852427	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs182554829	chr15:41852442-41852443	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs141484898	chr15:41852443-41852444	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs533766753	chr15:41852463-41852464	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs565390712	chr15:41852465-41852466	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs146197070	chr15:41852494-41852495	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs139402527	chr15:41852514-41852515	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs542091436	chr15:41852574-41852575	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs201273145	chr15:41852586-41852587	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs369495054	chr15:41852591-41852592	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs55859560	chr15:41852626-41852627	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs150653270	chr15:41852627-41852628	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs11070338	chr15:41852628-41852629	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs60225874	chr15:41852630-41852631	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs576680216	chr15:41852638-41852639	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs188361901	chr15:41852644-41852645	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs536355980	chr15:41852651-41852652	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs145853536	chr15:41852691-41852692	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs376924092	chr15:41852697-41852698	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs572374189	chr15:41852791-41852792	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs377700147	chr15:41852828-41852829	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs541413000	chr15:41852851-41852852	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:406 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41850000-41852200	Enhancers	Liver	Liver
2	chr15:41850000-41853000	Enhancers	Fetal Heart	heart
3	chr15:41850200-41852200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:41850200-41852600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr15:41850200-41852600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:41850200-41853200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr15:41850400-41852200	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr15:41850600-41851800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr15:41850600-41852000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr15:41850600-41852000	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr15:41850600-41852000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr15:41850600-41852200	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr15:41850600-41852200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr15:41850600-41852200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr15:41850600-41852200	Active TSS	Aorta	Aorta
16	chr15:41850600-41852200	Active TSS	Fetal Brain Female	brain
17	chr15:41850600-41852200	Active TSS	Psoas Muscle	Psoas
18	chr15:41850600-41852400	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr15:41850600-41852600	Active TSS	Brain Angular Gyrus	brain
20	chr15:41850800-41851600	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr15:41850800-41851800	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr15:41850800-41851800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr15:41850800-41851800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr15:41850800-41851800	Active TSS	Duodenum Mucosa	Duodenum
25	chr15:41850800-41851800	Active TSS	Esophagus	oesophagus
26	chr15:41850800-41851800	Weak transcription	Fetal Brain Male	brain
27	chr15:41850800-41851800	Active TSS	Rectal Mucosa Donor 31	rectum
28	chr15:41850800-41851800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
29	chr15:41850800-41851800	Active TSS	NHEK	skin
30	chr15:41850800-41852000	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr15:41850800-41852000	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr15:41850800-41852000	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr15:41850800-41852000	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr15:41850800-41852000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr15:41850800-41852000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr15:41850800-41852000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr15:41850800-41852000	Active TSS	Brain Cingulate Gyrus	brain
38	chr15:41850800-41852000	Active TSS	Colon Smooth Muscle	Colon
39	chr15:41850800-41852000	Active TSS	Fetal Intestine Large	intestine
40	chr15:41850800-41852000	Active TSS	Lung	lung
41	chr15:41850800-41852200	Active TSS	H1 Cell Line	embryonic stem cell
42	chr15:41850800-41852200	Active TSS	Brain Anterior Caudate	brain
43	chr15:41850800-41852200	Active TSS	Ovary	ovary
44	chr15:41850800-41852200	Active TSS	HSMMtube	muscle
45	chr15:41850800-41852200	Active TSS	NHDF-Ad	bronchial
46	chr15:41850800-41852200	Active TSS	NHLF	lung
47	chr15:41850800-41852400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr15:41850800-41852400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:41850800-41852400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr15:41850800-41852400	Enhancers	Primary T killer memory cells from peripheral blood	blood

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