Variant report

Variant	esv3356054
Chromosome Location	chr15:100272454-100275002
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	ARID3A	chr15:100273856-100274074	HepG2	liver:	n/a	n/a
2	ATF2	chr15:100273817-100274088	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr15:100272807-100274184	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr15:100273487-100273537	K562	blood:	n/a	n/a
5	BHLHE40	chr15:100273540-100274066	GM12878	blood:	n/a	n/a
6	BRCA1	chr15:100272232-100272847	H1-hESC	embryonic stem cell:	n/a	chr15:100272342-100272349
7	BRCA1	chr15:100273175-100273360	Hela-S3	cervix:	n/a	n/a
8	BRCA1	chr15:100273697-100273952	Hela-S3	cervix:	n/a	n/a
9	CCNT2	chr15:100273066-100273777	K562	blood:	n/a	chr15:100273359-100273368
10	CEBPB	chr15:100272526-100272959	IMR90	lung:	n/a	chr15:100272604-100272615
11	CEBPB	chr15:100273407-100273506	HepG2	liver:	n/a	n/a
12	CEBPB	chr15:100273327-100274082	Hela-S3	cervix:	n/a	n/a
13	CEBPD	chr15:100273801-100274156	HepG2	liver:	n/a	n/a
14	CEBPD	chr15:100273428-100273783	HepG2	liver:	n/a	n/a
15	CEBPD	chr15:100273755-100273957	HepG2	liver:	n/a	n/a
16	CEBPD	chr15:100273374-100273693	HepG2	liver:	n/a	n/a
17	CHD1	chr15:100273195-100273522	GM12878	blood:	n/a	n/a
18	CHD2	chr15:100273353-100274171	GM12878	blood:	n/a	n/a
19	CHD2	chr15:100273240-100273378	K562	blood:	n/a	n/a
20	CHD2	chr15:100272844-100274197	H1-hESC	embryonic stem cell:	n/a	chr15:100273093-100273103
21	CHD2	chr15:100272750-100274110	Hela-S3	cervix:	n/a	chr15:100273093-100273103
22	CHD2	chr15:100273240-100274079	HepG2	liver:	n/a	n/a
23	CHD2	chr15:100272747-100272946	GM12878	blood:	n/a	n/a
24	CREB1	chr15:100273204-100274089	A549	lung:	n/a	n/a
25	CREB1	chr15:100273061-100274304	HepG2	liver:	n/a	n/a
26	CTCF	chr15:100272880-100273030	GM12872	blood:	n/a	chr15:100273003-100273016
27	CTCF	chr15:100273574-100273694	Spleen_OC	spleen:	n/a	n/a
28	CTCF	chr15:100273612-100273695	Kidney_OC	kidney:	n/a	n/a
29	CUX1	chr15:100274088-100274092	GM12878	blood:	n/a	n/a
30	E2F4	chr15:100273263-100274045	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F6	chr15:100273398-100273724	K562	blood:	n/a	n/a
32	E2F6	chr15:100272795-100273478	A549	lung:	n/a	n/a
33	E2F6	chr15:100272732-100273471	H1-hESC	embryonic stem cell:	n/a	n/a
34	E2F6	chr15:100272913-100273230	K562	blood:	n/a	n/a
35	E2F6	chr15:100272900-100273418	H1-hESC	embryonic stem cell:	n/a	n/a
36	EBF1	chr15:100273905-100274107	GM12878	blood:	n/a	chr15:100274036-100274047
37	EGR1	chr15:100272941-100273112	GM12878	blood:	n/a	chr15:100273028-100273041 chr15:100273027-100273041 chr15:100273029-100273039 chr15:100273023-100273045 chr15:100273028-100273041 chr15:100273029-100273038 chr15:100273029-100273039 chr15:100273029-100273040 chr15:100273027-100273042 chr15:100273025-100273039 chr15:100273028-100273041 chr15:100273029-100273040 chr15:100273028-100273041
38	EGR1	chr15:100272870-100273158	K562	blood:	n/a	chr15:100273028-100273041 chr15:100273027-100273041 chr15:100273029-100273039 chr15:100273023-100273045 chr15:100273028-100273041 chr15:100273029-100273038 chr15:100273029-100273039 chr15:100273029-100273040 chr15:100273027-100273042 chr15:100273025-100273039 chr15:100273028-100273041 chr15:100273029-100273040 chr15:100273028-100273041
39	EGR1	chr15:100272922-100273116	GM12878	blood:	n/a	chr15:100273028-100273041 chr15:100273027-100273041 chr15:100273029-100273039 chr15:100273023-100273045 chr15:100273028-100273041 chr15:100273029-100273038 chr15:100273029-100273039 chr15:100273029-100273040 chr15:100273027-100273042 chr15:100273025-100273039 chr15:100273028-100273041 chr15:100273029-100273040 chr15:100273028-100273041
40	EGR1	chr15:100273737-100273954	K562	blood:	n/a	chr15:100273813-100273822 chr15:100273831-100273844 chr15:100273829-100273839 chr15:100273830-100273845 chr15:100273830-100273840
41	EGR1	chr15:100272844-100273149	H1-hESC	embryonic stem cell:	n/a	chr15:100273028-100273041 chr15:100273027-100273041 chr15:100273029-100273039 chr15:100273023-100273045 chr15:100273028-100273041 chr15:100273029-100273038 chr15:100273029-100273039 chr15:100273029-100273040 chr15:100273027-100273042 chr15:100273025-100273039 chr15:100273028-100273041 chr15:100273029-100273040 chr15:100273028-100273041
42	EGR1	chr15:100272885-100273474	MCF-7	breast:	n/a	chr15:100273028-100273041 chr15:100273027-100273041 chr15:100273432-100273442 chr15:100273029-100273039 chr15:100273023-100273045 chr15:100273028-100273041 chr15:100273029-100273038 chr15:100273029-100273039 chr15:100273029-100273040 chr15:100273027-100273042 chr15:100273025-100273039 chr15:100273028-100273041 chr15:100273029-100273040 chr15:100273028-100273041
43	ELF1	chr15:100273575-100274070	K562	blood:	n/a	chr15:100273809-100273822 chr15:100273811-100273822 chr15:100273811-100273822 chr15:100273812-100273821
44	ELF1	chr15:100273589-100274277	MCF-7	breast:	n/a	chr15:100273809-100273822 chr15:100273811-100273822 chr15:100273811-100273822 chr15:100273812-100273821
45	ELF1	chr15:100273728-100274022	A549	lung:	n/a	chr15:100273809-100273822 chr15:100273811-100273822 chr15:100273811-100273822 chr15:100273812-100273821
46	ELF1	chr15:100273635-100274037	A549	lung:	n/a	chr15:100273809-100273822 chr15:100273811-100273822 chr15:100273811-100273822 chr15:100273812-100273821
47	ELF1	chr15:100273417-100274058	GM12878	blood:	n/a	chr15:100273809-100273822 chr15:100273811-100273822 chr15:100273811-100273822 chr15:100273812-100273821
48	ELF1	chr15:100273547-100274200	HCT-116	colon:	n/a	chr15:100273809-100273822 chr15:100273811-100273822 chr15:100273811-100273822 chr15:100273812-100273821
49	ELF1	chr15:100273579-100274012	K562	blood:	n/a	chr15:100273809-100273822 chr15:100273811-100273822 chr15:100273811-100273822 chr15:100273812-100273821
50	ELF1	chr15:100273659-100273965	HepG2	liver:	n/a	chr15:100273809-100273822 chr15:100273811-100273822 chr15:100273811-100273822 chr15:100273812-100273821

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:100274128-100274178	MCF10A-Er-Src	breast:	n/a
2	chr15:100273790-100273840	PANC-1	pancreas:	n/a
3	chr15:100274128-100274178	MCF10A-Er-Src	breast:	n/a
4	chr15:100273790-100273840	PANC-1	pancreas:	n/a
5	chr15:100273730-100273780	AoSMC	blood vessel:	n/a
6	chr15:100274195-100274245	ECC-1	luminal epithelium:	n/a
7	chr15:100273732-100273782	GM12878	blood:	n/a
8	chr15:100273505-100273555	SK-N-SH	brain:	n/a
9	chr15:100273797-100273847	GM12891	blood:	n/a
10	chr15:100273706-100273756	PFSK-1	brain:	n/a
11	chr15:100273718-100273768	Hepatocyte	liver:	n/a
12	chr15:100273730-100273780	GM06990	blood:	n/a
13	chr15:100273732-100273782	SKMC	muscle:	n/a
14	chr15:100273699-100273749	ECC-1	luminal epithelium:	n/a
15	chr15:100273718-100273768	NT2-D1	testis:	n/a
16	chr15:100273706-100273756	CMK	blood:	n/a
17	chr15:100273828-100273878	HEK293	kidney:	embryo
18	chr15:100273145-100273195	Hela-S3	cervix:	n/a
19	chr15:100273316-100273366	SAEC	small airway:	n/a
20	chr15:100273706-100273756	SK-N-SH_RA	brain:	n/a
21	chr15:100273611-100273661	HRE	kidney:	n/a
22	chr15:100273611-100273661	ECC-1	luminal epithelium:	n/a
23	chr15:100273611-100273661	ProgFib	skin:	n/a
24	chr15:100274128-100274178	NT2-D1	testis:	n/a
25	chr15:100274195-100274245	HepG2	liver:	n/a
26	chr15:100273732-100273782	AoSMC	blood vessel:	n/a
27	chr15:100273732-100273782	NT2-D1	testis:	n/a
28	chr15:100273718-100273768	NHBE	bronchial:	n/a
29	chr15:100273316-100273366	HRPEpiC	eye:	n/a
30	chr15:100274248-100274298	GM19239	blood:	n/a
31	chr15:100273790-100273840	NH-A	brain:	n/a
32	chr15:100273706-100273756	Hela-S3	cervix:	n/a
33	chr15:100272751-100272801	HUVEC	blood vessel:	n/a
34	chr15:100273611-100273661	HIPEpiC	eye:	n/a
35	chr15:100273699-100273749	HepG2	liver:	n/a
36	chr15:100274248-100274298	ProgFib	skin:	n/a
37	chr15:100273828-100273878	K562	blood:	n/a
38	chr15:100273611-100273661	BE2_C	brain:	n/a
39	chr15:100273611-100273661	HMEC	breast:	n/a
40	chr15:100274195-100274245	ProgFib	skin:	n/a
41	chr15:100274128-100274178	HCPEpiC	choroid plexus:	n/a
42	chr15:100273505-100273555	SK-N-SH_RA	brain:	n/a
43	chr15:100273611-100273661	AG09319	gingival:	n/a
44	chr15:100274248-100274298	GM06990	blood:	n/a
45	chr15:100273797-100273847	AG09309	skin:	n/a
46	chr15:100273797-100273847	HCPEpiC	choroid plexus:	n/a
47	chr15:100273316-100273366	SK-N-SH	brain:	n/a
48	chr15:100273316-100273366	ovcar-3	ovarian:	n/a
49	chr15:100273730-100273780	HepG2	liver:	n/a
50	chr15:100273706-100273756	HCT-116	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:99788657..99793033-chr15:100273651..100276844,5	MCF-7	breast:
2	chr15:100257917..100259969-chr15:100273281..100275251,2	MCF-7	breast:
3	chr15:100105670..100107207-chr15:100272767..100275061,2	MCF-7	breast:
4	chr15:99826798..99828339-chr15:100272977..100274878,2	MCF-7	breast:
5	chr15:99789846..99791808-chr15:100272487..100274799,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LYSMD4-1	chr15:100273550-100273596	NONHSAT050878
2	lnc-LYSMD4-1	chr15:100273550-100273649	NONHSAT050879

Variant related genes	Relation type
LYSMD4	TF binding region
LYSMD4	CpG island
ENSG00000068305	chromatin interactions
ENSG00000214397	chromatin interactions
ENSG00000103852	chromatin interactions
ENSG00000168904	chromatin interactions

Extended variants
information (count: 113 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs882051	chr15:100272454-100272455	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192916630	chr15:100272517-100272518	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs549601379	chr15:100272542-100272543	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs570449157	chr15:100272543-100272544	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs185087541	chr15:100272558-100272559	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs113844465	chr15:100272560-100272561	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs574040660	chr15:100272562-100272563	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs574120954	chr15:100272567-100272568	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs149485315	chr15:100272576-100272577	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs562834101	chr15:100272584-100272585	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs557384989	chr15:100272611-100272612	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs562893274	chr15:100272627-100272628	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs575746430	chr15:100272643-100272644	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs546077262	chr15:100272700-100272701	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs556670692	chr15:100272708-100272709	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs188060640	chr15:100272818-100272819	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs143003693	chr15:100272842-100272843	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs573361732	chr15:100272880-100272881	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs540760941	chr15:100272905-100272906	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs562037611	chr15:100272920-100272921	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs529323529	chr15:100272936-100272937	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs548462649	chr15:100272937-100272938	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs563435772	chr15:100272976-100272977	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs372884039	chr15:100272977-100272978	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs552075140	chr15:100273013-100273014	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs570659294	chr15:100273016-100273017	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs112657913	chr15:100273024-100273025	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs531602080	chr15:100273051-100273052	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs76746018	chr15:100273071-100273072	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs567684485	chr15:100273110-100273111	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs535085079	chr15:100273121-100273122	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs369863660	chr15:100273153-100273154	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs36078095	chr15:100273207-100273208	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs66853185	chr15:100273208-100273209	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs575840636	chr15:100273269-100273270	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs540161334	chr15:100273296-100273297	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs368965576	chr15:100273301-100273302	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs558048836	chr15:100273329-100273330	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs191733284	chr15:100273334-100273335	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs373026700	chr15:100273339-100273340	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs2924787	chr15:100273422-100273423	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	mRNA abundance
42	rs143921681	chr15:100273450-100273451	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs555909965	chr15:100273501-100273502	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs574034263	chr15:100273516-100273517	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs148635910	chr15:100273528-100273529	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs562940378	chr15:100273589-100273590	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
47	rs530698262	chr15:100273590-100273591	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
48	rs546106051	chr15:100273596-100273597	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
49	rs183900604	chr15:100273604-100273605	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
50	rs35747287	chr15:100273607-100273608	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:52)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	20811773	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	20409316	CNVD
Emphysema	19352772	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Lung squamous cell carcinoma	20842114	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:402 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:100249600-100272800	Weak transcription	Small Intestine	intestine
2	chr15:100261800-100272600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr15:100269600-100272600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:100269800-100272600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr15:100269800-100272800	Weak transcription	Gastric	stomach
6	chr15:100271200-100274000	Active TSS	Fetal Intestine Large	intestine
7	chr15:100271400-100272600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr15:100271400-100273000	Flanking Active TSS	HMEC	breast
9	chr15:100271600-100272600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr15:100271600-100272600	Enhancers	Placenta Amnion	Placenta Amnion
11	chr15:100271600-100273000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
12	chr15:100271600-100273000	Flanking Active TSS	NHEK	skin
13	chr15:100271600-100273200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr15:100271600-100274200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr15:100271800-100272600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
16	chr15:100271800-100272600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:100271800-100272600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:100271800-100272600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr15:100271800-100272600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr15:100271800-100272600	Enhancers	GM12878-XiMat	blood
21	chr15:100271800-100272800	Enhancers	Spleen	Spleen
22	chr15:100271800-100273000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr15:100271800-100273000	Flanking Active TSS	Fetal Brain Female	brain
24	chr15:100271800-100273200	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr15:100271800-100273400	Flanking Active TSS	Colonic Mucosa	Colon
26	chr15:100271800-100274200	Active TSS	Rectal Smooth Muscle	rectum
27	chr15:100272000-100272600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
28	chr15:100272000-100272600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr15:100272000-100272800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
30	chr15:100272000-100272800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
31	chr15:100272000-100272800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr15:100272000-100272800	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr15:100272000-100272800	Flanking Active TSS	Fetal Lung	lung
34	chr15:100272000-100273000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr15:100272000-100273000	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr15:100272000-100273000	Flanking Active TSS	Fetal Muscle Leg	muscle
37	chr15:100272000-100273200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr15:100272000-100273200	Flanking Active TSS	Dnd41	blood
39	chr15:100272000-100273600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr15:100272000-100274000	Active TSS	Colon Smooth Muscle	Colon
41	chr15:100272000-100274000	Active TSS	Fetal Intestine Small	intestine
42	chr15:100272000-100274200	Active TSS	NHLF	lung
43	chr15:100272200-100272600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:100272200-100272600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr15:100272200-100272600	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr15:100272200-100272600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr15:100272200-100272600	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr15:100272200-100272600	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr15:100272200-100272600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr15:100272200-100272800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell

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