Variant report

Variant	esv3422174
Chromosome Location	chr15:75492924-75495772
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1077)
CpG islands
(count:854)
Chromatin interactive
region (count:49)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1077 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:75494240-75494417	HepG2	liver:	n/a	chr15:75494289-75494301
2	ARID3A	chr15:75493823-75493927	HepG2	liver:	n/a	n/a
3	ATF2	chr15:75494068-75494542	GM12878	blood:	n/a	n/a
4	ATF2	chr15:75492990-75493360	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr15:75492998-75493368	GM12878	blood:	n/a	n/a
6	ATF2	chr15:75492832-75493532	GM12878	blood:	n/a	n/a
7	ATF2	chr15:75494890-75496514	GM12878	blood:	n/a	n/a
8	ATF2	chr15:75494958-75495400	GM12878	blood:	n/a	n/a
9	ATF3	chr15:75494229-75494804	K562	blood:	n/a	n/a
10	ATF3	chr15:75494134-75494754	A549	lung:	n/a	n/a
11	BACH1	chr15:75495025-75495198	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr15:75493771-75494459	K562	blood:	n/a	n/a
13	BACH1	chr15:75493183-75493383	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr15:75493911-75494645	H1-hESC	embryonic stem cell:	n/a	n/a
15	BATF	chr15:75494978-75495265	GM12878	blood:	n/a	n/a
16	BCL3	chr15:75494980-75495468	A549	lung:	n/a	chr15:75495137-75495150
17	BCL3	chr15:75493411-75494857	A549	lung:	n/a	chr15:75494450-75494463 chr15:75494235-75494244 chr15:75494227-75494240 chr15:75494062-75494070 chr15:75494367-75494380 chr15:75494109-75494122 chr15:75494799-75494812 chr15:75494230-75494243 chr15:75494063-75494076 chr15:75494540-75494553 chr15:75494372-75494381
18	BCLAF1	chr15:75493448-75494138	GM12878	blood:	n/a	chr15:75494062-75494070 chr15:75494109-75494122 chr15:75494063-75494076
19	BCLAF1	chr15:75494205-75495737	GM12878	blood:	n/a	chr15:75494450-75494463 chr15:75494235-75494244 chr15:75495137-75495150 chr15:75494227-75494240 chr15:75494367-75494380 chr15:75494799-75494812 chr15:75494230-75494243 chr15:75494540-75494553 chr15:75494372-75494381
20	BCLAF1	chr15:75494918-75495384	GM12878	blood:	n/a	chr15:75495137-75495150
21	BHLHE40	chr15:75493784-75495777	K562	blood:	n/a	chr15:75494555-75494571 chr15:75494803-75494819 chr15:75495184-75495200
22	BHLHE40	chr15:75493918-75495405	HepG2	liver:	n/a	chr15:75494555-75494571 chr15:75494803-75494819 chr15:75495184-75495200
23	BHLHE40	chr15:75493212-75493389	K562	blood:	n/a	n/a
24	BHLHE40	chr15:75494948-75495383	A549	lung:	n/a	chr15:75495184-75495200
25	BHLHE40	chr15:75493859-75495808	GM12878	blood:	n/a	chr15:75494555-75494571 chr15:75494803-75494819 chr15:75495184-75495200
26	BRCA1	chr15:75494278-75494421	HepG2	liver:	n/a	n/a
27	BRCA1	chr15:75493260-75493557	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr15:75495447-75495761	GM12878	blood:	n/a	n/a
29	BRCA1	chr15:75494703-75495351	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr15:75493982-75494098	GM12878	blood:	n/a	n/a
31	CBX3	chr15:75494701-75495418	K562	blood:	n/a	n/a
32	CBX3	chr15:75493040-75493396	K562	blood:	n/a	n/a
33	CBX3	chr15:75494174-75494616	K562	blood:	n/a	n/a
34	CCNT2	chr15:75493579-75495757	K562	blood:	n/a	chr15:75494162-75494171
35	CCNT2	chr15:75493127-75493327	K562	blood:	n/a	n/a
36	CEBPB	chr15:75493049-75494398	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr15:75493470-75493589	A549	lung:	n/a	n/a
38	CEBPB	chr15:75493396-75493696	HepG2	liver:	n/a	n/a
39	CEBPB	chr15:75494702-75495318	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr15:75495013-75495830	GM12878	blood:	n/a	n/a
41	CEBPB	chr15:75493952-75493988	HepG2	liver:	n/a	n/a
42	CEBPD	chr15:75493891-75494500	HepG2	liver:	n/a	n/a
43	CEBPD	chr15:75494176-75494435	HepG2	liver:	n/a	n/a
44	CEBPD	chr15:75493008-75493594	HepG2	liver:	n/a	n/a
45	CHD1	chr15:75493707-75496010	GM12878	blood:	n/a	n/a
46	CHD1	chr15:75494520-75494727	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD1	chr15:75493051-75496668	IMR90	lung:	n/a	chr15:75493160-75493170
48	CHD2	chr15:75493912-75495387	Hela-S3	cervix:	n/a	n/a
49	CHD2	chr15:75493437-75493438	HepG2	liver:	n/a	n/a
50	CHD2	chr15:75493065-75493591	Hela-S3	cervix:	n/a	chr15:75493160-75493170

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:75494077-75494127	HL-60	blood:	n/a
2	chr15:75494410-75494460	IMR90	lung:	fetal
3	chr15:75495174-75495224	HCM	heart:	n/a
4	chr15:75494022-75494072	ProgFib	skin:	n/a
5	chr15:75493871-75493921	ECC-1	luminal epithelium:	n/a
6	chr15:75494034-75494084	AG09319	gingival:	n/a
7	chr15:75494077-75494127	NHDF-neo	bronchial:	n/a
8	chr15:75494077-75494127	Caco-2	colon:	n/a
9	chr15:75494877-75494927	HEK293	kidney:	embryo
10	chr15:75493871-75493921	IMR90	lung:	fetal
11	chr15:75494066-75494116	PrEC	prostate:	n/a
12	chr15:75494066-75494116	Caco-2	colon:	n/a
13	chr15:75495112-75495162	AoSMC	blood vessel:	n/a
14	chr15:75494022-75494072	HEEpiC	esophagus:	n/a
15	chr15:75494877-75494927	PANC-1	pancreas:	n/a
16	chr15:75494295-75494345	SAEC	small airway:	n/a
17	chr15:75494877-75494927	HRCEpiC	kidney:	n/a
18	chr15:75494877-75494927	MCF10A-Er-Src	breast:	n/a
19	chr15:75493871-75493921	A549	lung:	n/a
20	chr15:75494295-75494345	A549	lung:	n/a
21	chr15:75494295-75494345	H1-hESC	embryonic stem cell:	embryo
22	chr15:75494410-75494460	HIPEpiC	eye:	n/a
23	chr15:75494295-75494345	HNPCEpiC	eye:	n/a
24	chr15:75494877-75494927	Caco-2	colon:	n/a
25	chr15:75494410-75494460	ovcar-3	ovarian:	n/a
26	chr15:75493996-75494046	Jurkat	blood:	n/a
27	chr15:75494287-75494337	HMEC	breast:	n/a
28	chr15:75493819-75493869	AG04450	lung:	fetal
29	chr15:75494034-75494084	SK-N-SH	brain:	n/a
30	chr15:75494066-75494116	ECC-1	luminal epithelium:	n/a
31	chr15:75494022-75494072	NHDF-neo	bronchial:	n/a
32	chr15:75494410-75494460	PANC-1	pancreas:	n/a
33	chr15:75494877-75494927	GM19239	blood:	n/a
34	chr15:75494877-75494927	AG10803	skin:	n/a
35	chr15:75494022-75494072	HRPEpiC	eye:	n/a
36	chr15:75495174-75495224	AG09319	gingival:	n/a
37	chr15:75494066-75494116	GM12892	blood:	n/a
38	chr15:75494034-75494084	H1-hESC	embryonic stem cell:	embryo
39	chr15:75494022-75494072	CMK	blood:	n/a
40	chr15:75495112-75495162	T-47D	breast:	n/a
41	chr15:75495112-75495162	PrEC	prostate:	n/a
42	chr15:75494077-75494127	SK-N-SH_RA	brain:	n/a
43	chr15:75494034-75494084	Caco-2	colon:	n/a
44	chr15:75494022-75494072	AG04449	skin:	fetal
45	chr15:75495112-75495162	SK-N-SH_RA	brain:	n/a
46	chr15:75493819-75493869	Caco-2	colon:	n/a
47	chr15:75494034-75494084	HRCEpiC	kidney:	n/a
48	chr15:75494410-75494460	HRCEpiC	kidney:	n/a
49	chr15:75493996-75494046	BJ	skin:	n/a
50	chr15:75493871-75493921	ovcar-3	ovarian:	n/a

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:75334817..75335758-chr15:75495189..75496264,3	MCF-7	breast:
2	chr15:75331603..75340227-chr15:75492938..75499942,15	K562	blood:
3	chr15:75332512..75342228-chr15:75491817..75496419,22	MCF-7	breast:
4	chr15:75333855..75341122-chr15:75492635..75495814,9	MCF-7	breast:
5	chr11:93474223..93474807-chr15:75493674..75494425,2	Hela-S3	cervix:
6	chr11:746943..747698-chr15:75493994..75494509,2	NB4	blood:
7	chr15:75312886..75327225-chr15:75491522..75500922,36	K562	blood:
8	chr15:75478122..75480662-chr15:75494393..75496768,2	MCF-7	breast:
9	chr15:75249199..75251809-chr15:75494359..75496397,2	K562	blood:
10	chr15:75334055..75342899-chr15:75492444..75498798,20	K562	blood:
11	chr15:75314704..75323577-chr15:75491522..75500562,29	MCF-7	breast:
12	chr15:74906571..74908107-chr15:75493036..75494786,2	MCF-7	breast:
13	chr1:45285439..45286092-chr15:75493542..75494533,2	HCT-116	colon:
14	chr15:75486189..75488237-chr15:75491823..75494086,2	MCF-7	breast:
15	chr15:75494073..75494672-chr20:60757477..60758442,2	Hela-S3	cervix:
16	chr15:75335299..75336533-chr15:75494000..75494818,4	K562	blood:
17	chr15:75494063..75494759-chr19:11200821..11201384,2	Hela-S3	cervix:
18	chr15:75314427..75332274-chr15:75491598..75502885,56	MCF-7	breast:
19	chr15:75334824..75335770-chr15:75494095..75494948,2	Hela-S3	cervix:
20	chr15:75492389..75494597-chr8:145752169..145754298,2	MCF-7	breast:
21	chr15:75493996..75494506-chr17:73775369..73776016,2	Hela-S3	cervix:
22	chr10:99205832..99206393-chr15:75493784..75494431,2	Hela-S3	cervix:
23	chr15:75490684..75493339-chr15:75497415..75499804,2	K562	blood:
24	chr15:75487202..75491376-chr15:75491587..75495203,5	K562	blood:
25	chr15:75321350..75322254-chr15:75493363..75493944,2	MCF-7	breast:
26	chr15:75494141..75494785-chr19:10397247..10397835,2	NB4	blood:
27	chr15:75485312..75486049-chr15:75494876..75495553,2	K562	blood:
28	chr15:75488848..75492298-chr15:75492406..75495739,4	MCF-7	breast:
29	chr15:75494917..75495761-chr3:135969152..135969971,2	Hela-S3	cervix:
30	chr15:75493511..75494496-chr5:108084246..108084833,2	Hela-S3	cervix:
31	chr15:75307941..75311039-chr15:75492807..75495397,4	MCF-7	breast:
32	chr15:75345292..75348855-chr15:75495155..75497587,4	K562	blood:
33	chr15:75494081..75494765-chr6:26216536..26217185,2	Hela-S3	cervix:
34	chr15:75366296..75367875-chr15:75495021..75496744,2	MCF-7	breast:
35	chr15:75248197..75251380-chr15:75494107..75498676,4	MCF-7	breast:
36	chr12:120554154..120554853-chr15:75493750..75494389,2	MCF-7	breast:
37	chr15:75405088..75407275-chr15:75491436..75494556,3	MCF-7	breast:
38	chr15:75493870..75496515-chr15:75627756..75630428,2	K562	blood:
39	chr15:75335261..75336225-chr15:75493661..75494947,6	MCF-7	breast:
40	chr15:75314737..75326433-chr15:75490770..75500610,30	K562	blood:
41	chr15:75334933..75335774-chr15:75493965..75494927,3	MCF-7	breast:
42	chr15:75494031..75494716-chr6:146285371..146286217,2	Hela-S3	cervix:
43	chr15:75477700..75479387-chr15:75492353..75494507,2	MCF-7	breast:
44	chr15:75493782..75494704-chr7:99686361..99687060,2	HCT-116	colon:
45	chr15:75494265..75494910-chr20:33103340..33104322,2	Hela-S3	cervix:
46	chr1:228296537..228297467-chr15:75493986..75494523,2	Hela-S3	cervix:
47	chr15:75411616..75414340-chr15:75494203..75495704,2	MCF-7	breast:
48	chr15:75470196..75472288-chr15:75492167..75494098,2	K562	blood:
49	chr15:75494161..75494665-chr17:7387268..7388126,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
C15orf39	TF binding region
C15orf39	CpG island
ENSG00000167173	chromatin interactions
ENSG00000202444	chromatin interactions
ENSG00000213563	chromatin interactions
ENSG00000171307	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000168090	chromatin interactions
ENSG00000166012	chromatin interactions
ENSG00000105371	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000138621	chromatin interactions
ENSG00000146414	chromatin interactions
ENSG00000178718	chromatin interactions
ENSG00000177156	chromatin interactions
ENSG00000260483	chromatin interactions
ENSG00000260152	chromatin interactions
ENSG00000168274	chromatin interactions
ENSG00000198794	chromatin interactions
ENSG00000111737	chromatin interactions
ENSG00000130164	chromatin interactions
ENSG00000101181	chromatin interactions
ENSG00000151422	chromatin interactions
ENSG00000240366	chromatin interactions
ENSG00000182919	chromatin interactions
ENSG00000140365	chromatin interactions
ENSG00000162910	chromatin interactions
ENSG00000260919	chromatin interactions
ENSG00000114054	chromatin interactions
ENSG00000254402	chromatin interactions
ENSG00000125971	chromatin interactions
ENSG00000187990	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000252722	chromatin interactions
ENSG00000179335	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181069638	chr15:75492982-75492983	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs140306746	chr15:75493042-75493043	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs559381032	chr15:75493044-75493045	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs375140727	chr15:75493059-75493060	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs555537811	chr15:75493075-75493076	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs150347286	chr15:75493126-75493127	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs570242206	chr15:75493131-75493132	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs71440222	chr15:75493154-75493155	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs530979810	chr15:75493170-75493171	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs375615301	chr15:75493174-75493175	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs552663059	chr15:75493224-75493225	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs185400252	chr15:75493238-75493239	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs191296965	chr15:75493261-75493262	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs569335104	chr15:75493303-75493304	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs117379590	chr15:75493381-75493382	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs34838371	chr15:75493404-75493405	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs577498363	chr15:75493408-75493409	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs536554859	chr15:75493449-75493450	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs554531241	chr15:75493493-75493494	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs576206379	chr15:75493522-75493523	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs543280203	chr15:75493523-75493524	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs7161993	chr15:75493527-75493528	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs577052913	chr15:75493555-75493556	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs541123110	chr15:75493568-75493569	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs149098780	chr15:75493578-75493579	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs1873380	chr15:75493597-75493598	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs529618219	chr15:75493670-75493671	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs542527129	chr15:75493683-75493684	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
29	rs563802492	chr15:75493775-75493776	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
30	rs531216955	chr15:75493818-75493819	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
31	rs3937851	chr15:75493823-75493824	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
32	rs78528377	chr15:75493839-75493840	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
33	rs570705107	chr15:75493882-75493883	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
34	rs369389549	chr15:75493907-75493908	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
35	rs369323319	chr15:75493943-75493944	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
36	rs182838071	chr15:75493953-75493954	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
37	rs568453975	chr15:75494102-75494103	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
38	rs535451036	chr15:75494104-75494105	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
39	rs557299344	chr15:75494158-75494159	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
40	rs569884649	chr15:75494249-75494250	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
41	rs537341127	chr15:75494257-75494258	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
42	rs143188727	chr15:75494261-75494262	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
43	rs372162245	chr15:75494283-75494284	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
44	rs577065182	chr15:75494293-75494294	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
45	rs541137348	chr15:75494578-75494579	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
46	rs553070870	chr15:75494637-75494638	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
47	rs376764100	chr15:75494652-75494653	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
48	rs138257917	chr15:75494733-75494734	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
49	rs541491286	chr15:75494746-75494747	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
50	rs563281193	chr15:75494754-75494755	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
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
Epilepsy	22083797	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:522 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75487800-75493200	Weak transcription	Brain Substantia Nigra	brain
2	chr15:75488000-75493200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr15:75488200-75493400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr15:75488400-75493200	Weak transcription	Colon Smooth Muscle	Colon
5	chr15:75488600-75493400	Weak transcription	Ovary	ovary
6	chr15:75489800-75493200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr15:75490400-75493200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:75490600-75493200	Enhancers	Primary hematopoietic stem cells	blood
9	chr15:75490600-75493200	Flanking Active TSS	HepG2	liver
10	chr15:75490800-75493000	Enhancers	Gastric	stomach
11	chr15:75490800-75493200	Enhancers	Thymus	Thymus
12	chr15:75490800-75493200	Enhancers	K562	blood
13	chr15:75491000-75493400	Weak transcription	Brain Anterior Caudate	brain
14	chr15:75491200-75493200	Enhancers	Primary T cells from cord blood	blood
15	chr15:75491200-75493200	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr15:75491200-75493600	Enhancers	Lung	lung
17	chr15:75491200-75494000	Flanking Active TSS	GM12878-XiMat	blood
18	chr15:75491200-75494000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr15:75491400-75493400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr15:75491600-75493200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr15:75491600-75493200	Enhancers	Adipose Nuclei	Adipose
22	chr15:75491600-75493200	Weak transcription	Liver	Liver
23	chr15:75491600-75493200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr15:75491800-75493000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr15:75491800-75493200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr15:75491800-75493400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr15:75491800-75493400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr15:75492000-75493200	Enhancers	Primary B cells from cord blood	blood
29	chr15:75492000-75493200	Enhancers	Fetal Thymus	thymus
30	chr15:75492000-75493400	Enhancers	Brain Hippocampus Middle	brain
31	chr15:75492000-75493400	Enhancers	Dnd41	blood
32	chr15:75492000-75493600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr15:75492200-75493200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr15:75492200-75493200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr15:75492200-75493200	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr15:75492200-75493400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr15:75492200-75493400	Enhancers	Right Ventricle	heart
38	chr15:75492200-75493600	Enhancers	Left Ventricle	heart
39	chr15:75492200-75494000	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr15:75492400-75493000	Enhancers	Primary T cells fromperipheralblood	blood
41	chr15:75492400-75493000	Enhancers	Small Intestine	intestine
42	chr15:75492400-75493200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr15:75492400-75493200	Enhancers	Fetal Heart	heart
44	chr15:75492400-75493200	Bivalent Enhancer	Fetal Stomach	stomach
45	chr15:75492400-75493400	Enhancers	Stomach Smooth Muscle	stomach
46	chr15:75492400-75493600	Enhancers	Right Atrium	heart
47	chr15:75492400-75494000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr15:75492400-75494000	Flanking Active TSS	Hela-S3	cervix
49	chr15:75492600-75493000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
50	chr15:75492600-75493000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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