Variant report

Variant	esv3352352
Chromosome Location	chr15:78422697-78424795
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:502)
CpG islands
(count:550)
Chromatin interactive
region (count:13)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:502 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr15:78423663-78424469	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL3	chr15:78423783-78424545	A549	lung:	n/a	chr15:78423888-78423897 chr15:78424085-78424094 chr15:78423805-78423818
3	BCLAF1	chr15:78423661-78424092	GM12878	blood:	n/a	chr15:78423888-78423897 chr15:78423697-78423710 chr15:78423805-78423818
4	BCLAF1	chr15:78423670-78424174	GM12878	blood:	n/a	chr15:78423888-78423897 chr15:78424085-78424094 chr15:78423697-78423710 chr15:78423805-78423818
5	BHLHE40	chr15:78423661-78424512	K562	blood:	n/a	chr15:78423807-78423823 chr15:78423792-78423808
6	BHLHE40	chr15:78423234-78423433	K562	blood:	n/a	n/a
7	BHLHE40	chr15:78423640-78424077	GM12878	blood:	n/a	chr15:78423807-78423823 chr15:78423792-78423808 chr15:78423657-78423673
8	BRCA1	chr15:78423701-78423996	H1-hESC	embryonic stem cell:	n/a	n/a
9	BRCA1	chr15:78424000-78424096	Hela-S3	cervix:	n/a	n/a
10	CCNT2	chr15:78423534-78424255	K562	blood:	n/a	n/a
11	CEBPB	chr15:78423832-78423970	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr15:78423775-78423975	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPD	chr15:78423685-78423957	HepG2	liver:	n/a	n/a
14	CHD1	chr15:78423875-78424310	GM12878	blood:	n/a	n/a
15	CHD2	chr15:78423780-78424330	GM12878	blood:	n/a	n/a
16	CHD2	chr15:78423722-78423982	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr15:78423706-78424237	Hela-S3	cervix:	n/a	n/a
18	CHD2	chr15:78423869-78423890	HepG2	liver:	n/a	n/a
19	CREB1	chr15:78423536-78424331	A549	lung:	n/a	n/a
20	CTCF	chr15:78423728-78423964	Kidney_OC	kidney:	n/a	n/a
21	CTCF	chr15:78423631-78424013	SK-N-SH_RA	brain:	n/a	chr15:78423709-78423722
22	CTCF	chr15:78423760-78423910	HepG2	liver:	n/a	n/a
23	CTCF	chr15:78423614-78423998	ECC-1	luminal epithelium:	n/a	chr15:78423709-78423722
24	CTCF	chr15:78423642-78424003	GM12892	blood:	n/a	chr15:78423709-78423722
25	CTCF	chr15:78423438-78424195	K562	blood:	n/a	chr15:78423709-78423722
26	CTCF	chr15:78423720-78423870	HepG2	liver:	n/a	n/a
27	CTCF	chr15:78423840-78423990	HUVEC	blood vessel:	n/a	n/a
28	CTCF	chr15:78423593-78424000	HepG2	liver:	n/a	chr15:78423709-78423722
29	CTCF	chr15:78423683-78423983	NHEK	skin:	n/a	chr15:78423709-78423722
30	CTCF	chr15:78423720-78423870	HEK293	kidney:	n/a	n/a
31	CTCF	chr15:78423646-78424000	GM19240	blood:	n/a	chr15:78423709-78423722
32	CTCF	chr15:78423740-78423890	GM12867	blood:	n/a	n/a
33	CTCF	chr15:78423616-78424255	IMR90	lung:	n/a	chr15:78423709-78423722
34	CTCF	chr15:78423634-78423977	SK-N-SH_RA	brain:	n/a	chr15:78423709-78423722
35	CTCF	chr15:78423667-78423996	Fibrobl	skin:	n/a	chr15:78423709-78423722
36	CTCF	chr15:78423667-78423935	GM20000	blood:	n/a	chr15:78423709-78423722
37	CTCF	chr15:78423760-78423910	GM12865	blood:	n/a	n/a
38	CTCF	chr15:78423700-78423850	WI-38	lung:	n/a	chr15:78423709-78423722
39	CTCF	chr15:78423701-78423939	ProgFib	skin:	n/a	chr15:78423709-78423722
40	CTCF	chr15:78424100-78424250	GM12866	blood:	n/a	n/a
41	CTCF	chr15:78423760-78423910	WERI-Rb-1	eye:	n/a	n/a
42	CTCF	chr15:78423760-78423910	Caco-2	colon:	n/a	n/a
43	CTCF	chr15:78423593-78424075	A549	lung:	n/a	chr15:78423709-78423722
44	CTCF	chr15:78423720-78423870	BE2_C	brain:	n/a	n/a
45	CTCF	chr15:78423760-78423910	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr15:78423612-78423979	A549	lung:	n/a	chr15:78423709-78423722
47	CTCF	chr15:78423760-78423910	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr15:78423740-78423890	HFF	foreskin:	n/a	n/a
49	CTCF	chr15:78423659-78423981	GM12878	blood:	n/a	chr15:78423709-78423722
50	CTCF	chr15:78423700-78423850	MCF-7	breast:	n/a	chr15:78423709-78423722

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:78423564-78423614	HMEC	breast:	n/a
2	chr15:78423564-78423614	HMEC	breast:	n/a
3	chr15:78424095-78424145	NH-A	brain:	n/a
4	chr15:78423530-78423580	HEEpiC	esophagus:	n/a
5	chr15:78423938-78423988	MCF-7	breast:	n/a
6	chr15:78423564-78423614	HNPCEpiC	eye:	n/a
7	chr15:78423943-78423993	BE2_C	brain:	n/a
8	chr15:78423938-78423988	SK-N-MC	brain:	n/a
9	chr15:78423564-78423614	LNCaP	prostate:	n/a
10	chr15:78423564-78423614	BE2_C	brain:	n/a
11	chr15:78423530-78423580	AoSMC	blood vessel:	n/a
12	chr15:78424072-78424122	U87	brain:	n/a
13	chr15:78423758-78423808	SK-N-SH	brain:	n/a
14	chr15:78423564-78423614	Jurkat	blood:	n/a
15	chr15:78423758-78423808	HL-60	blood:	n/a
16	chr15:78423758-78423808	NB4	blood:	n/a
17	chr15:78424152-78424202	AG09309	skin:	n/a
18	chr15:78423530-78423580	NB4	blood:	n/a
19	chr15:78423938-78423988	HIPEpiC	eye:	n/a
20	chr15:78423943-78423993	HEK293	kidney:	embryo
21	chr15:78423530-78423580	BJ	skin:	n/a
22	chr15:78424072-78424122	HCM	heart:	n/a
23	chr15:78423530-78423580	U87	brain:	n/a
24	chr15:78423564-78423614	SKMC	muscle:	n/a
25	chr15:78424072-78424122	SK-N-SH_RA	brain:	n/a
26	chr15:78424072-78424122	HRPEpiC	eye:	n/a
27	chr15:78424072-78424122	Jurkat	blood:	n/a
28	chr15:78423530-78423580	CMK	blood:	n/a
29	chr15:78424152-78424202	IMR90	lung:	fetal
30	chr15:78423564-78423614	HPAEpiC	pulmonary alveolar:	n/a
31	chr15:78424152-78424202	NHBE	bronchial:	n/a
32	chr15:78424072-78424122	SKMC	muscle:	n/a
33	chr15:78423758-78423808	AoSMC	blood vessel:	n/a
34	chr15:78424141-78424191	HNPCEpiC	eye:	n/a
35	chr15:78423938-78423988	BJ	skin:	n/a
36	chr15:78424152-78424202	GM12891	blood:	n/a
37	chr15:78424072-78424122	NH-A	brain:	n/a
38	chr15:78423938-78423988	SAEC	small airway:	n/a
39	chr15:78424152-78424202	NHDF-neo	bronchial:	n/a
40	chr15:78424141-78424191	HCT-116	colon:	n/a
41	chr15:78424072-78424122	HIPEpiC	eye:	n/a
42	chr15:78423564-78423614	AG10803	skin:	n/a
43	chr15:78424141-78424191	SK-N-SH	brain:	n/a
44	chr15:78423530-78423580	HUVEC	blood vessel:	n/a
45	chr15:78424152-78424202	AG04450	lung:	fetal
46	chr15:78423938-78423988	AG09319	gingival:	n/a
47	chr15:78423758-78423808	SKMC	muscle:	n/a
48	chr15:78424072-78424122	HL-60	blood:	n/a
49	chr15:78423758-78423808	AG09319	gingival:	n/a
50	chr15:78424141-78424191	A549	lung:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:78422464..78425441-chr3:23985742..23987944,2	MCF-7	breast:
2	chr15:78423938..78425787-chr15:78425913..78427617,2	K562	blood:
3	chr15:78424205..78426450-chr15:78728498..78730195,2	K562	blood:
4	chr15:78422015..78425228-chr15:78439030..78443289,7	K562	blood:
5	chr15:78423050..78427605-chr15:78432495..78437286,5	K562	blood:
6	chr15:78424791..78431116-chr15:78431151..78434947,7	MCF-7	breast:
7	chr15:78422439..78424007-chr15:78432504..78434738,2	MCF-7	breast:
8	chr15:78421103..78425437-chr15:78438436..78443517,9	MCF-7	breast:
9	chr15:78423820..78425369-chr15:78574288..78576188,2	K562	blood:
10	chr15:78424185..78426461-chr15:78430186..78431822,2	K562	blood:
11	chr15:78422233..78425731-chr15:78438987..78443227,7	K562	blood:
12	chr15:78422180..78427678-chr15:78438636..78444300,13	MCF-7	breast:
13	chr15:78421965..78424193-chr15:78465887..78467751,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SH2D7-2	chr15:78423840-78423973	NONHSAT047539
2	lnc-ACSBG1-3	chr15:78424252-78424524	l_1196_chr15:78424251-78427184_brain

No data

Variant related genes	Relation type
IDH3A	TF binding region
CIB2	TF binding region
IDH3A	CpG island
CIB2	CpG island
ENSG00000166411	chromatin interactions
ENSG00000272418	chromatin interactions
ENSG00000103740	chromatin interactions
ENSG00000136381	chromatin interactions
ENSG00000174738	chromatin interactions
ENSG00000260988	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6495274	chr15:78422769-78422770	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556773514	chr15:78422774-78422775	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs541520007	chr15:78422807-78422808	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs578233994	chr15:78422809-78422810	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs144749963	chr15:78422832-78422833	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs554266266	chr15:78422836-78422837	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs192009849	chr15:78422866-78422867	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs183334112	chr15:78422924-78422925	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs148524788	chr15:78422954-78422955	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs561169410	chr15:78422955-78422956	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs61573009	chr15:78422985-78422986	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs530414350	chr15:78423060-78423061	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs577349017	chr15:78423100-78423101	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs188447529	chr15:78423127-78423128	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs532197238	chr15:78423147-78423148	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs547129387	chr15:78423173-78423174	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs374551910	chr15:78423202-78423203	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs72732570	chr15:78423229-78423230	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs141731189	chr15:78423234-78423235	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs548167306	chr15:78423278-78423279	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs182330972	chr15:78423281-78423282	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs538525146	chr15:78423289-78423290	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs550512962	chr15:78423324-78423325	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs571845094	chr15:78423326-78423327	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs186680215	chr15:78423371-78423372	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs112308337	chr15:78423433-78423434	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	mRNA abundance
27	rs8040395	chr15:78423479-78423480	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs373826971	chr15:78423546-78423547	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs536373665	chr15:78423567-78423568	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs201655250	chr15:78423579-78423580	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs368498640	chr15:78423591-78423592	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs11547207	chr15:78423596-78423597	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs369854897	chr15:78423613-78423614	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs564839260	chr15:78423666-78423667	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs566097906	chr15:78423771-78423772	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs541211286	chr15:78423795-78423796	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs559331816	chr15:78423832-78423833	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs529776066	chr15:78423858-78423859	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
39	rs376230492	chr15:78424008-78424009	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs548014890	chr15:78424026-78424027	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs117831341	chr15:78424041-78424042	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs530543843	chr15:78424076-78424077	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs111943066	chr15:78424193-78424194	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs549966004	chr15:78424208-78424209	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs77146492	chr15:78424276-78424277	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
46	rs539008316	chr15:78424284-78424285	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
47	rs547945432	chr15:78424313-78424314	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
48	rs62009274	chr15:78424367-78424368	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
49	rs72732571	chr15:78424369-78424370	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs536715917	chr15:78424384-78424385	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD

Chromatin state (count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78396600-78423800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr15:78398400-78423200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:78406000-78423000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr15:78406400-78423000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr15:78409000-78423000	Weak transcription	Brain Anterior Caudate	brain
6	chr15:78415200-78423000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:78417200-78423200	Weak transcription	Adipose Nuclei	Adipose
8	chr15:78417400-78422800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr15:78417800-78423000	Weak transcription	Fetal Stomach	stomach
10	chr15:78420600-78423000	Weak transcription	Stomach Mucosa	stomach
11	chr15:78421000-78423000	Enhancers	K562	blood
12	chr15:78421200-78422800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr15:78421200-78422800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr15:78421200-78422800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr15:78421200-78422800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr15:78421200-78423000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr15:78421200-78423000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:78421200-78423200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:78421200-78423200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr15:78421200-78423400	Flanking Active TSS	Fetal Thymus	thymus
21	chr15:78421400-78423000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr15:78421400-78423000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:78421400-78423200	Flanking Active TSS	Fetal Intestine Large	intestine
24	chr15:78421400-78423200	Enhancers	Fetal Muscle Trunk	muscle
25	chr15:78421400-78423200	Enhancers	Fetal Muscle Leg	muscle
26	chr15:78421400-78423400	Weak transcription	Esophagus	oesophagus
27	chr15:78421400-78423400	Flanking Active TSS	Fetal Intestine Small	intestine
28	chr15:78421600-78422800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr15:78421600-78423000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr15:78421600-78423200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr15:78421800-78422800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr15:78421800-78423000	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr15:78421800-78423000	Weak transcription	HMEC	breast
34	chr15:78421800-78423200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr15:78421800-78423200	Enhancers	Fetal Heart	heart
36	chr15:78421800-78423400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr15:78421800-78423400	Enhancers	Pancreas	Pancrea
38	chr15:78422000-78423000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr15:78422000-78423200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr15:78422000-78423200	Enhancers	Colonic Mucosa	Colon
41	chr15:78422000-78423400	Weak transcription	Left Ventricle	heart
42	chr15:78422000-78423400	Weak transcription	Psoas Muscle	Psoas
43	chr15:78422000-78423600	Weak transcription	Lung	lung
44	chr15:78422000-78424000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr15:78422200-78422800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr15:78422200-78423000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr15:78422200-78423200	Weak transcription	Brain Angular Gyrus	brain
48	chr15:78422200-78423200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr15:78422200-78423200	Weak transcription	Right Ventricle	heart
50	chr15:78422200-78424800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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