Variant report

Variant	esv3322653
Chromosome Location	chr15:74724424-74727272
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	chr15:74726253-74726286	K562	blood:	n/a	n/a
2	ATF2	chr15:74725996-74726787	GM12878	blood:	n/a	n/a
3	BACH1	chr15:74725857-74726057	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr15:74725906-74725939	K562	blood:	n/a	n/a
5	BACH1	chr15:74726362-74726672	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr15:74726148-74726611	GM12878	blood:	n/a	n/a
7	BCL11A	chr15:74726241-74726662	GM12878	blood:	n/a	chr15:74726471-74726480 chr15:74726372-74726381
8	BCL3	chr15:74726038-74726603	GM12878	blood:	n/a	chr15:74726471-74726480 chr15:74726064-74726077 chr15:74726372-74726381 chr15:74726063-74726076
9	BCLAF1	chr15:74726006-74726666	GM12878	blood:	n/a	chr15:74726471-74726480 chr15:74726064-74726077 chr15:74726372-74726381 chr15:74726022-74726035 chr15:74726063-74726076
10	BCLAF1	chr15:74725906-74726705	GM12878	blood:	n/a	chr15:74726471-74726480 chr15:74726064-74726077 chr15:74726372-74726381 chr15:74726022-74726035 chr15:74726063-74726076
11	BHLHE40	chr15:74725374-74725482	GM12878	blood:	n/a	n/a
12	BHLHE40	chr15:74725918-74726764	GM12878	blood:	n/a	chr15:74726022-74726038
13	BHLHE40	chr15:74725856-74726684	K562	blood:	n/a	chr15:74726022-74726038
14	BHLHE40	chr15:74725905-74726657	HepG2	liver:	n/a	chr15:74726022-74726038
15	CBX3	chr15:74725794-74726155	K562	blood:	n/a	n/a
16	CCNT2	chr15:74724803-74726548	K562	blood:	n/a	chr15:74725140-74725149 chr15:74726366-74726375 chr15:74725787-74725796 chr15:74725056-74725065 chr15:74726361-74726370 chr15:74726373-74726382 chr15:74725169-74725178
17	CEBPB	chr15:74726217-74726862	GM12878	blood:	n/a	n/a
18	CEBPD	chr15:74726093-74726573	HepG2	liver:	n/a	n/a
19	CEBPD	chr15:74726114-74726409	HepG2	liver:	n/a	n/a
20	CHD1	chr15:74724875-74725031	GM12878	blood:	n/a	n/a
21	CHD1	chr15:74722244-74727150	IMR90	lung:	n/a	chr15:74726359-74726369 chr15:74725431-74725441 chr15:74725141-74725151 chr15:74726366-74726376
22	CHD1	chr15:74725950-74726199	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD1	chr15:74725764-74726566	GM12878	blood:	n/a	chr15:74726359-74726369 chr15:74726366-74726376
24	CHD2	chr15:74725926-74726126	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr15:74726365-74726566	H1-hESC	embryonic stem cell:	n/a	chr15:74726366-74726376
26	CHD2	chr15:74725995-74726011	HepG2	liver:	n/a	n/a
27	CHD2	chr15:74726229-74726510	HepG2	liver:	n/a	chr15:74726359-74726369 chr15:74726366-74726376
28	CHD2	chr15:74725853-74726734	K562	blood:	n/a	chr15:74726359-74726369 chr15:74726366-74726376
29	CHD2	chr15:74724899-74725099	GM12878	blood:	n/a	n/a
30	CHD2	chr15:74726011-74727069	GM12878	blood:	n/a	chr15:74726359-74726369 chr15:74726366-74726376
31	CREB1	chr15:74725827-74726736	GM12878	blood:	n/a	n/a
32	CREB1	chr15:74725839-74726472	K562	blood:	n/a	n/a
33	CTCF	chr15:74726160-74726310	GM12865	blood:	n/a	n/a
34	CTCF	chr15:74726410-74726475	GM12878	blood:	n/a	n/a
35	CTCF	chr15:74725960-74726110	AG04449	skin:	n/a	n/a
36	CTCF	chr15:74725960-74726110	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr15:74725960-74726110	HUVEC	blood vessel:	n/a	n/a
38	CTCF	chr15:74726480-74726630	AG04449	skin:	n/a	n/a
39	CTCF	chr15:74726202-74726326	GM12891	blood:	n/a	n/a
40	CTCF	chr15:74726253-74726267	GM12892	blood:	n/a	n/a
41	CTCF	chr15:74725940-74726090	SAEC	small airway:	n/a	n/a
42	CTCF	chr15:74726020-74726170	GM12874	blood:	n/a	n/a
43	CTCF	chr15:74725960-74726110	SAEC	small airway:	n/a	n/a
44	CTCF	chr15:74725955-74726199	K562	blood:	n/a	n/a
45	CTCF	chr15:74725980-74726130	HMEC	breast:	n/a	n/a
46	CTCF	chr15:74726179-74726322	Spleen_OC	spleen:	n/a	n/a
47	CTCF	chr15:74725831-74726351	K562	blood:	n/a	chr15:74726330-74726343
48	CTCF	chr15:74726233-74726292	GM19239	blood:	n/a	n/a
49	CTCF	chr15:74725380-74725530	AoAF	blood vessel:	n/a	n/a
50	CUX1	chr15:74726528-74726818	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:74726143-74726193	HepG2	liver:	n/a
2	chr15:74726614-74726664	HRPEpiC	eye:	n/a
3	chr15:74726457-74726507	HL-60	blood:	n/a
4	chr15:74726614-74726664	MCF-7	breast:	n/a
5	chr15:74726143-74726193	PFSK-1	brain:	n/a
6	chr15:74725593-74725643	HCPEpiC	choroid plexus:	n/a
7	chr15:74724918-74724968	IMR90	lung:	fetal
8	chr15:74725882-74725932	Hela-S3	cervix:	n/a
9	chr15:74724562-74724612	HMEC	breast:	n/a
10	chr15:74726614-74726664	GM06990	blood:	n/a
11	chr15:74726136-74726186	AoSMC	blood vessel:	n/a
12	chr15:74726139-74726189	HCT-116	colon:	n/a
13	chr15:74725882-74725932	AoSMC	blood vessel:	n/a
14	chr15:74726143-74726193	Jurkat	blood:	n/a
15	chr15:74724562-74724612	ECC-1	luminal epithelium:	n/a
16	chr15:74726561-74726611	Jurkat	blood:	n/a
17	chr15:74726561-74726611	NH-A	brain:	n/a
18	chr15:74726457-74726507	GM19239	blood:	n/a
19	chr15:74725662-74725712	HEK293	kidney:	embryo
20	chr15:74726520-74726570	GM12892	blood:	n/a
21	chr15:74724562-74724612	LNCaP	prostate:	n/a
22	chr15:74726457-74726507	HepG2	liver:	n/a
23	chr15:74726561-74726611	HCT-116	colon:	n/a
24	chr15:74726136-74726186	HCT-116	colon:	n/a
25	chr15:74725593-74725643	NB4	blood:	n/a
26	chr15:74726614-74726664	AG04450	lung:	fetal
27	chr15:74725980-74726030	K562	blood:	n/a
28	chr15:74726139-74726189	BE2_C	brain:	n/a
29	chr15:74724918-74724968	GM12892	blood:	n/a
30	chr15:74726561-74726611	GM19239	blood:	n/a
31	chr15:74726139-74726189	SAEC	small airway:	n/a
32	chr15:74725882-74725932	HNPCEpiC	eye:	n/a
33	chr15:74724918-74724968	AG04450	lung:	fetal
34	chr15:74725882-74725932	HEEpiC	esophagus:	n/a
35	chr15:74726520-74726570	GM06990	blood:	n/a
36	chr15:74725980-74726030	GM06990	blood:	n/a
37	chr15:74726423-74726473	HRPEpiC	eye:	n/a
38	chr15:74726561-74726611	NT2-D1	testis:	n/a
39	chr15:74726457-74726507	Hela-S3	cervix:	n/a
40	chr15:74726486-74726536	HepG2	liver:	n/a
41	chr15:74726457-74726507	HRE	kidney:	n/a
42	chr15:74724562-74724612	K562	blood:	n/a
43	chr15:74725593-74725643	AoSMC	blood vessel:	n/a
44	chr15:74724918-74724968	ECC-1	luminal epithelium:	n/a
45	chr15:74724562-74724612	U87	brain:	n/a
46	chr15:74726469-74726519	HNPCEpiC	eye:	n/a
47	chr15:74725662-74725712	GM19239	blood:	n/a
48	chr15:74726520-74726570	ProgFib	skin:	n/a
49	chr15:74725593-74725643	SAEC	small airway:	n/a
50	chr15:74726486-74726536	K562	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:74720298..74721801-chr15:74727091..74728921,2	MCF-7	breast:
2	chr15:74724666..74727655-chr15:74741238..74745335,3	MCF-7	breast:
3	chr15:74725918..74726573-chr6:157802147..157802863,2	HCT-116	colon:
4	chr15:74724949..74728351-chr15:74752030..74754909,4	K562	blood:
5	chr12:22777643..22778220-chr15:74725782..74726536,2	NB4	blood:
6	chr15:74724949..74727531-chr15:74752948..74755543,2	K562	blood:
7	chr15:74725986..74726600-chrX:46771960..46772662,2	NB4	blood:
8	chr15:74665092..74667430-chr15:74726842..74729796,2	K562	blood:
9	chr11:94300330..94300985-chr15:74726326..74726975,2	NB4	blood:
10	chr15:74725782..74726755-chr17:41465710..41466295,2	NB4	blood:
11	chr15:74666968..74670060-chr15:74726920..74730762,3	K562	blood:
12	chr15:74676164..74677951-chr15:74723828..74725756,2	MCF-7	breast:

Variant related genes	Relation type
SEMA7A	TF binding region
SEMA7A	CpG island
ENSG00000257023	chromatin interactions
ENSG00000175048	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000134627	chromatin interactions
ENSG00000102221	chromatin interactions
ENSG00000247240	chromatin interactions
ENSG00000138629	chromatin interactions
ENSG00000139163	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149739178	chr15:74724481-74724482	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191166301	chr15:74724508-74724509	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550811384	chr15:74724515-74724516	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113239526	chr15:74724524-74724525	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181566768	chr15:74724553-74724554	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539380515	chr15:74724632-74724633	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs558030772	chr15:74724654-74724655	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs144642638	chr15:74724674-74724675	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs113477109	chr15:74724681-74724682	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs112965271	chr15:74724682-74724683	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs533794121	chr15:74724708-74724709	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs554899400	chr15:74724758-74724759	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs140680898	chr15:74724765-74724766	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs536951294	chr15:74724772-74724773	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs543886203	chr15:74724792-74724793	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs539328464	chr15:74724797-74724798	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs553212759	chr15:74724904-74724905	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs562767710	chr15:74724905-74724906	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs578119759	chr15:74724918-74724919	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs185866394	chr15:74724919-74724920	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs560848838	chr15:74724921-74724922	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs7171556	chr15:74724928-74724929	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs371195210	chr15:74725032-74725033	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs543066067	chr15:74725049-74725050	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs202178027	chr15:74725166-74725167	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs561232170	chr15:74725192-74725193	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs531876574	chr15:74725193-74725194	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs550277346	chr15:74725294-74725295	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs569121242	chr15:74725302-74725303	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs374718528	chr15:74725305-74725306	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs36101834	chr15:74725308-74725309	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs551249359	chr15:74725331-74725332	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs55695493	chr15:74725338-74725339	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs533820752	chr15:74725466-74725467	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs543601640	chr15:74725554-74725555	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs554960909	chr15:74725672-74725673	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs566898308	chr15:74725782-74725783	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs183120031	chr15:74725802-74725803	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs12910841	chr15:74725822-74725823	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs1437655	chr15:74725823-74725824	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs577622736	chr15:74725914-74725915	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs187798281	chr15:74725943-74725944	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs554043915	chr15:74725962-74725963	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs190321670	chr15:74725966-74725967	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs543328759	chr15:74725973-74725974	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs144642175	chr15:74726062-74726063	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs550611342	chr15:74726066-74726067	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs531735795	chr15:74726072-74726073	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs543975316	chr15:74726092-74726093	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs370718073	chr15:74726132-74726133	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	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
Breast cancer	21364760	CNVD
Epilepsy	22083797	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:636 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74709200-74724800	Weak transcription	Primary T cells from cord blood	blood
2	chr15:74713200-74725000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
3	chr15:74713400-74725200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr15:74715600-74724800	Weak transcription	Lung	lung
5	chr15:74716200-74724800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:74716200-74725000	Weak transcription	A549	lung
7	chr15:74716600-74725000	Weak transcription	Right Atrium	heart
8	chr15:74719000-74724600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr15:74720200-74725200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr15:74720600-74725400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr15:74721200-74724600	Weak transcription	Pancreas	Pancrea
12	chr15:74721200-74726400	Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr15:74721800-74724600	Flanking Active TSS	NH-A	brain
14	chr15:74721800-74724800	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr15:74722000-74724600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:74722000-74724600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr15:74722200-74724600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:74722200-74724800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr15:74722200-74724800	Transcr. at gene 5' and 3'	HSMM	muscle
20	chr15:74722400-74724600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:74722400-74724800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr15:74722400-74725200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr15:74722600-74724800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
24	chr15:74722800-74724600	Enhancers	Fetal Brain Male	brain
25	chr15:74722800-74725000	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr15:74722800-74725000	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr15:74722800-74725000	Flanking Active TSS	Placenta	Placenta
28	chr15:74723000-74724600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr15:74723000-74724600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr15:74723200-74724800	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr15:74723200-74724800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr15:74723200-74724800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr15:74723200-74724800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr15:74723200-74725000	Flanking Active TSS	Brain Cingulate Gyrus	brain
35	chr15:74723200-74725000	Flanking Active TSS	Brain Substantia Nigra	brain
36	chr15:74723200-74725800	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr15:74723400-74725000	Flanking Active TSS	Fetal Brain Female	brain
38	chr15:74723400-74725000	Active TSS	Spleen	Spleen
39	chr15:74723400-74725000	Flanking Active TSS	HMEC	breast
40	chr15:74723400-74725200	Flanking Active TSS	NHEK	skin
41	chr15:74723400-74725400	Flanking Active TSS	Thymus	Thymus
42	chr15:74723400-74726600	Active TSS	HSMMtube	muscle
43	chr15:74723600-74724600	Bivalent Enhancer	Fetal Muscle Leg	muscle
44	chr15:74723600-74724800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
45	chr15:74723600-74725200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr15:74723600-74725400	Flanking Active TSS	Fetal Thymus	thymus
47	chr15:74723600-74726000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr15:74723600-74726200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
49	chr15:74723800-74724600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr15:74723800-74724800	Enhancers	Primary hematopoietic stem cells	blood

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