Variant report

Variant	esv3409471
Chromosome Location	chr15:72488923-72491471
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:271)
CpG islands
(count:611)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr15:72490170-72490548	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr15:72490172-72491147	GM12878	blood:	n/a	n/a
3	ATF2	chr15:72490197-72490721	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr15:72489849-72490031	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr15:72489954-72491190	GM12878	blood:	n/a	chr15:72491061-72491070
6	BCL3	chr15:72488849-72490138	A549	lung:	n/a	chr15:72489571-72489584 chr15:72489573-72489586
7	BCL3	chr15:72490172-72491207	A549	lung:	n/a	chr15:72491061-72491070
8	BCL3	chr15:72490707-72491122	GM12878	blood:	n/a	chr15:72491061-72491070
9	BCL3	chr15:72488810-72489964	A549	lung:	n/a	chr15:72489571-72489584 chr15:72489573-72489586
10	BCL3	chr15:72490013-72491688	A549	lung:	n/a	chr15:72491061-72491070
11	BCL3	chr15:72490221-72490600	GM12878	blood:	n/a	n/a
12	BCLAF1	chr15:72490236-72491065	GM12878	blood:	n/a	n/a
13	BCLAF1	chr15:72490198-72491275	GM12878	blood:	n/a	chr15:72491061-72491070
14	BRCA1	chr15:72489726-72489790	Hela-S3	cervix:	n/a	n/a
15	CCNT2	chr15:72490834-72491178	K562	blood:	n/a	chr15:72490878-72490887
16	CCNT2	chr15:72489847-72490064	K562	blood:	n/a	n/a
17	CEBPB	chr15:72490417-72490491	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr15:72489889-72490011	Hela-S3	cervix:	n/a	n/a
19	CEBPD	chr15:72490762-72490988	HepG2	liver:	n/a	n/a
20	CHD2	chr15:72490255-72491263	GM12878	blood:	n/a	n/a
21	CHD2	chr15:72489720-72491247	Hela-S3	cervix:	n/a	n/a
22	CHD2	chr15:72490249-72490767	K562	blood:	n/a	n/a
23	CHD2	chr15:72490787-72490796	HepG2	liver:	n/a	n/a
24	CHD2	chr15:72489876-72489895	HepG2	liver:	n/a	n/a
25	CHD2	chr15:72490192-72490850	H1-hESC	embryonic stem cell:	n/a	n/a
26	CREB1	chr15:72490167-72491431	HepG2	liver:	n/a	n/a
27	CTCF	chr15:72489580-72489730	HMEC	breast:	n/a	chr15:72489628-72489637
28	CTCF	chr15:72489460-72489610	HA-sp	spinal cord:	n/a	n/a
29	CTCF	chr15:72491256-72491321	GM19239	blood:	n/a	n/a
30	CTCF	chr15:72489960-72490110	GM12870	blood:	n/a	n/a
31	CTCF	chr15:72489780-72490070	HUVEC	blood vessel:	n/a	n/a
32	CTCF	chr15:72489820-72489970	GM12866	blood:	n/a	n/a
33	CTCF	chr15:72489640-72489790	HBMEC	blood vessel:	n/a	n/a
34	CTCF	chr15:72491382-72492345	T-47D	breast:	n/a	chr15:72492211-72492229 chr15:72492213-72492234 chr15:72492214-72492227 chr15:72492212-72492228
35	CTCF	chr15:72490700-72490850	HepG2	liver:	n/a	n/a
36	CTCF	chr15:72489960-72490110	GM12867	blood:	n/a	n/a
37	CTCF	chr15:72489780-72489930	GM12870	blood:	n/a	n/a
38	CTCF	chr15:72489960-72490110	AG04449	skin:	n/a	n/a
39	CTCF	chr15:72489945-72490003	Kidney_OC	kidney:	n/a	n/a
40	CTCF	chr15:72491278-72491469	A549	lung:	n/a	n/a
41	CTCF	chr15:72489580-72489730	HCPEpiC	choroid plexus:	n/a	chr15:72489628-72489637
42	CTCF	chr15:72489860-72490010	HMEC	breast:	n/a	n/a
43	CTCF	chr15:72489980-72490130	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr15:72491420-72491570	HBMEC	blood vessel:	n/a	n/a
45	E2F4	chr15:72490287-72490394	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F6	chr15:72489998-72490616	H1-hESC	embryonic stem cell:	n/a	chr15:72490114-72490124
47	E2F6	chr15:72489713-72490490	H1-hESC	embryonic stem cell:	n/a	chr15:72490114-72490124
48	EGR1	chr15:72490191-72490469	GM12878	blood:	n/a	chr15:72490248-72490263 chr15:72490249-72490262
49	ELF1	chr15:72490164-72491149	GM12878	blood:	n/a	chr15:72490225-72490237
50	ELF1	chr15:72490122-72491028	A549	lung:	n/a	chr15:72490225-72490237

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:72489609-72489659	PANC-1	pancreas:	n/a
2	chr15:72489609-72489659	PANC-1	pancreas:	n/a
3	chr15:72490059-72490109	H1-hESC	embryonic stem cell:	embryo
4	chr15:72491032-72491082	NHDF-neo	bronchial:	n/a
5	chr15:72489686-72489736	GM06990	blood:	n/a
6	chr15:72489686-72489736	NHDF-neo	bronchial:	n/a
7	chr15:72490380-72490430	HCF	heart:	n/a
8	chr15:72491032-72491082	SKMC	muscle:	n/a
9	chr15:72489828-72489878	NT2-D1	testis:	n/a
10	chr15:72490517-72490567	SAEC	small airway:	n/a
11	chr15:72491032-72491082	GM12891	blood:	n/a
12	chr15:72490517-72490567	HRCEpiC	kidney:	n/a
13	chr15:72489686-72489736	HUVEC	blood vessel:	n/a
14	chr15:72490380-72490430	ovcar-3	ovarian:	n/a
15	chr15:72489416-72489466	BE2_C	brain:	n/a
16	chr15:72490041-72490091	MCF10A-Er-Src	breast:	n/a
17	chr15:72490059-72490109	CMK	blood:	n/a
18	chr15:72490041-72490091	HCM	heart:	n/a
19	chr15:72490059-72490109	SK-N-SH_RA	brain:	n/a
20	chr15:72489416-72489466	HRPEpiC	eye:	n/a
21	chr15:72490380-72490430	GM19239	blood:	n/a
22	chr15:72490041-72490091	ProgFib	skin:	n/a
23	chr15:72489686-72489736	HMEC	breast:	n/a
24	chr15:72490041-72490091	SAEC	small airway:	n/a
25	chr15:72490517-72490567	ovcar-3	ovarian:	n/a
26	chr15:72490059-72490109	SKMC	muscle:	n/a
27	chr15:72490041-72490091	ovcar-3	ovarian:	n/a
28	chr15:72489416-72489466	AG09309	skin:	n/a
29	chr15:72489609-72489659	HCF	heart:	n/a
30	chr15:72489609-72489659	HRE	kidney:	n/a
31	chr15:72489686-72489736	LNCaP	prostate:	n/a
32	chr15:72489828-72489878	CMK	blood:	n/a
33	chr15:72489686-72489736	HNPCEpiC	eye:	n/a
34	chr15:72489828-72489878	HMEC	breast:	n/a
35	chr15:72489416-72489466	HIPEpiC	eye:	n/a
36	chr15:72490059-72490109	NHBE	bronchial:	n/a
37	chr15:72489609-72489659	BE2_C	brain:	n/a
38	chr15:72490059-72490109	K562	blood:	n/a
39	chr15:72490380-72490430	NB4	blood:	n/a
40	chr15:72490059-72490109	GM06990	blood:	n/a
41	chr15:72490059-72490109	HRE	kidney:	n/a
42	chr15:72490041-72490091	BJ	skin:	n/a
43	chr15:72490448-72490498	HCT-116	colon:	n/a
44	chr15:72491032-72491082	NHBE	bronchial:	n/a
45	chr15:72489828-72489878	SK-N-SH_RA	brain:	n/a
46	chr15:72489609-72489659	SKMC	muscle:	n/a
47	chr15:72490517-72490567	AG10803	skin:	n/a
48	chr15:72490448-72490498	SAEC	small airway:	n/a
49	chr15:72489828-72489878	HRE	kidney:	n/a
50	chr15:72490380-72490430	HMEC	breast:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:72488604..72491164-chr15:72493836..72495912,3	MCF-7	breast:
2	chr15:72484916..72487444-chr15:72490191..72493716,4	MCF-7	breast:
3	chr15:72487407..72489902-chr15:72490450..72492521,2	K562	blood:
4	chr15:72490633..72493001-chr15:72850995..72852624,2	K562	blood:
5	chr15:72489508..72492052-chr15:72496693..72498858,2	MCF-7	breast:
6	chr15:72487407..72489902-chr15:72490450..72492521,2	K562	blood:
7	chr15:72487347..72489902-chr15:72491021..72493729,2	K562	blood:
8	chr15:72488199..72491266-chr15:72491481..72494588,4	MCF-7	breast:
9	chr15:72490651..72493389-chr15:72515368..72517029,2	K562	blood:
10	chr11:8985991..8986779-chr15:72490524..72491472,2	Hela-S3	cervix:
11	chr15:72484816..72489111-chr15:72521467..72525337,7	MCF-7	breast:
12	chr15:72409727..72411428-chr15:72491311..72493114,2	K562	blood:
13	chr15:72487347..72489902-chr15:72491021..72493729,2	K562	blood:
14	chr15:72481897..72484290-chr15:72488055..72489624,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PKM2	hsa-miR-122-5p	chr15:72491470-72491463
2	PKM2	hsa-miR-122-5p	chr15:72491464-72491485

Variant related genes	Relation type
GRAMD2	TF binding region
GRAMD2	CpG island
ENSG00000166192	chromatin interactions
ENSG00000066933	chromatin interactions
ENSG00000254860	chromatin interactions
ENSG00000175348	chromatin interactions
ENSG00000067225	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149178074	chr15:72488949-72488950	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs555658024	chr15:72488998-72488999	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs118011688	chr15:72489112-72489113	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs143265327	chr15:72489129-72489130	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs556623054	chr15:72489199-72489200	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs575037755	chr15:72489315-72489316	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs151250645	chr15:72489325-72489326	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs369260022	chr15:72489397-72489398	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs141510303	chr15:72489408-72489409	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs568016461	chr15:72489438-72489439	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs537032650	chr15:72489505-72489506	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs573007964	chr15:72489513-72489514	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs76028302	chr15:72489520-72489521	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs368114338	chr15:72489543-72489544	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs201519481	chr15:72489554-72489555	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs2959901	chr15:72489561-72489562	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs561990639	chr15:72489583-72489584	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs563217006	chr15:72489588-72489589	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs35285520	chr15:72489593-72489594	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs369524130	chr15:72489624-72489625	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs117739775	chr15:72489632-72489633	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs533222632	chr15:72489676-72489677	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs138957358	chr15:72489688-72489689	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs1457030	chr15:72489692-72489693	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs527910147	chr15:72489697-72489698	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs561679362	chr15:72489714-72489715	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs376939396	chr15:72489780-72489781	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs183505426	chr15:72489824-72489825	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs530631837	chr15:72489855-72489856	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs556587220	chr15:72490000-72490001	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs568840352	chr15:72490037-72490038	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs12908008	chr15:72490170-72490171	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs557855918	chr15:72490176-72490177	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs572930027	chr15:72490192-72490193	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs540468082	chr15:72490205-72490206	Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs555687576	chr15:72490255-72490256	Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs574028759	chr15:72490268-72490269	Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs367597311	chr15:72490317-72490318	Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs544519878	chr15:72490320-72490321	Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs552856183	chr15:72490339-72490340	Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs562831867	chr15:72490396-72490397	Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs572526220	chr15:72490402-72490403	Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs533380647	chr15:72490458-72490459	Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs370564970	chr15:72490498-72490499	Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs142873917	chr15:72490540-72490541	Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs188796104	chr15:72490542-72490543	Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs549206028	chr15:72490554-72490555	Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs561244072	chr15:72490560-72490561	Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs531840427	chr15:72490579-72490580	Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs550076113	chr15:72490713-72490714	Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
Autism	20678247	CNVD
Retinoblastoma	21504564	CNVD
Matthew-Wood syndrome	21085971	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Urothelial cell carcinoma	18451213	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Mental retardation	17621639	CNVD
Autism	20808228	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:524 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72477000-72489400	Weak transcription	Right Atrium	heart
2	chr15:72483400-72489000	Weak transcription	Fetal Intestine Small	intestine
3	chr15:72485200-72489000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr15:72485200-72489000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr15:72485200-72489000	Enhancers	Placenta	Placenta
6	chr15:72485200-72489200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr15:72485200-72490400	Weak transcription	A549	lung
8	chr15:72485200-72490400	Weak transcription	HSMM	muscle
9	chr15:72485600-72489000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:72486600-72489000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:72487000-72489000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr15:72487200-72489000	Enhancers	HMEC	breast
13	chr15:72487400-72489000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr15:72487600-72493600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr15:72487800-72489000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr15:72487800-72490400	Weak transcription	GM12878-XiMat	blood
17	chr15:72488000-72489000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr15:72488000-72489000	Weak transcription	Lung	lung
19	chr15:72488000-72489000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr15:72488000-72489000	Enhancers	NHEK	skin
21	chr15:72488000-72489200	Weak transcription	Esophagus	oesophagus
22	chr15:72488000-72489800	Weak transcription	Gastric	stomach
23	chr15:72488000-72490400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr15:72488000-72491000	Weak transcription	K562	blood
25	chr15:72488400-72490400	Weak transcription	HSMMtube	muscle
26	chr15:72488800-72489000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr15:72488800-72489000	Enhancers	Brain Anterior Caudate	brain
28	chr15:72488800-72489200	Bivalent Enhancer	Fetal Intestine Large	intestine
29	chr15:72488800-72489200	Enhancers	Hela-S3	cervix
30	chr15:72488800-72489600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr15:72488800-72489600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
32	chr15:72488800-72489800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:72488800-72490600	Weak transcription	Dnd41	blood
34	chr15:72489000-72489200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
35	chr15:72489000-72489200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr15:72489000-72489200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
37	chr15:72489000-72489200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr15:72489000-72489200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr15:72489000-72489200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr15:72489000-72489200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr15:72489000-72489200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
42	chr15:72489000-72489200	Enhancers	Brain Hippocampus Middle	brain
43	chr15:72489000-72489200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
44	chr15:72489000-72489200	Enhancers	NH-A	brain
45	chr15:72489000-72489400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr15:72489000-72489400	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr15:72489000-72489400	Enhancers	Brain Substantia Nigra	brain
48	chr15:72489000-72489400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
49	chr15:72489000-72489400	Bivalent Enhancer	Fetal Intestine Small	intestine
50	chr15:72489000-72489400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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