Variant report

Variant	nsv572947
Chromosome Location	chr16:70714434-70731870
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1102)
CpG islands
(count:1037)
Chromatin interactive
region (count:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1102 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:70729555-70729873	K562	blood:	n/a	n/a
2	ARID3A	chr16:70723501-70723726	HepG2	liver:	n/a	n/a
3	ATF2	chr16:70727915-70728403	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr16:70719798-70720136	K562	blood:	n/a	chr16:70720000-70720009 chr16:70719988-70720008
5	ATF3	chr16:70719875-70720111	HepG2	liver:	n/a	chr16:70720000-70720009 chr16:70719988-70720008
6	BACH1	chr16:70728018-70728457	H1-hESC	embryonic stem cell:	n/a	chr16:70728171-70728185
7	BACH1	chr16:70729711-70729940	K562	blood:	n/a	n/a
8	BACH1	chr16:70719910-70720474	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr16:70719312-70719513	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL3	chr16:70719867-70720618	A549	lung:	n/a	chr16:70720296-70720305 chr16:70720004-70720013 chr16:70720001-70720010 chr16:70720041-70720054
11	BCL3	chr16:70719910-70720275	GM12878	blood:	n/a	chr16:70720004-70720013 chr16:70720001-70720010 chr16:70720041-70720054
12	BCL3	chr16:70727687-70728702	A549	lung:	n/a	n/a
13	BHLHE40	chr16:70720928-70721497	K562	blood:	n/a	n/a
14	BHLHE40	chr16:70719789-70720182	K562	blood:	n/a	n/a
15	BHLHE40	chr16:70723501-70723740	HepG2	liver:	n/a	n/a
16	BHLHE40	chr16:70719828-70721453	HepG2	liver:	n/a	n/a
17	BHLHE40	chr16:70729308-70729987	K562	blood:	n/a	n/a
18	BRCA1	chr16:70717199-70717278	HepG2	liver:	n/a	n/a
19	BRCA1	chr16:70723666-70723763	HepG2	liver:	n/a	n/a
20	BRCA1	chr16:70716747-70716841	HepG2	liver:	n/a	n/a
21	BRCA1	chr16:70715668-70716034	HepG2	liver:	n/a	n/a
22	BRCA1	chr16:70719326-70719329	HepG2	liver:	n/a	n/a
23	BRCA1	chr16:70716261-70716421	HepG2	liver:	n/a	n/a
24	CBX3	chr16:70729269-70730023	K562	blood:	n/a	n/a
25	CBX3	chr16:70719896-70720161	K562	blood:	n/a	n/a
26	CCNT2	chr16:70719419-70720258	K562	blood:	n/a	n/a
27	CCNT2	chr16:70729500-70730051	K562	blood:	n/a	chr16:70729780-70729800
28	CEBPB	chr16:70725829-70726025	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr16:70729665-70729925	K562	blood:	n/a	n/a
30	CEBPB	chr16:70718830-70719030	K562	blood:	n/a	n/a
31	CEBPB	chr16:70715492-70716327	HepG2	liver:	n/a	chr16:70716103-70716115
32	CEBPB	chr16:70715823-70716360	HepG2	liver:	n/a	chr16:70716103-70716115
33	CEBPB	chr16:70718852-70719059	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr16:70725709-70726188	IMR90	lung:	n/a	chr16:70726014-70726026
35	CEBPB	chr16:70715958-70716198	HepG2	liver:	n/a	chr16:70716103-70716115
36	CEBPB	chr16:70715572-70715741	HepG2	liver:	n/a	n/a
37	CEBPB	chr16:70715406-70716322	HepG2	liver:	n/a	chr16:70716103-70716115
38	CEBPB	chr16:70730765-70731305	MCF-7	breast:	n/a	n/a
39	CEBPB	chr16:70717157-70717360	HepG2	liver:	n/a	n/a
40	CEBPB	chr16:70718755-70718995	HepG2	liver:	n/a	n/a
41	CEBPB	chr16:70723693-70723780	HepG2	liver:	n/a	n/a
42	CEBPB	chr16:70726451-70726571	K562	blood:	n/a	n/a
43	CEBPB	chr16:70722613-70722701	HepG2	liver:	n/a	chr16:70722661-70722672
44	CEBPB	chr16:70722526-70722755	IMR90	lung:	n/a	chr16:70722661-70722672
45	CEBPB	chr16:70725922-70725973	HepG2	liver:	n/a	n/a
46	CEBPB	chr16:70729629-70729968	K562	blood:	n/a	n/a
47	CEBPB	chr16:70718756-70719015	IMR90	lung:	n/a	n/a
48	CEBPD	chr16:70715900-70716238	HepG2	liver:	n/a	n/a
49	CEBPD	chr16:70723433-70723706	HepG2	liver:	n/a	n/a
50	CEBPD	chr16:70717176-70717756	HepG2	liver:	n/a	n/a

(count:1037 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:70720133-70720183	SKMC	muscle:	n/a
2	chr16:70719277-70719327	PrEC	prostate:	n/a
3	chr16:70721696-70721746	AG04450	lung:	fetal
4	chr16:70721696-70721746	HCM	heart:	n/a
5	chr16:70720083-70720133	HUVEC	blood vessel:	n/a
6	chr16:70728001-70728051	HCT-116	colon:	n/a
7	chr16:70717902-70717952	A549	lung:	n/a
8	chr16:70720149-70720199	ovcar-3	ovarian:	n/a
9	chr16:70722454-70722504	SK-N-MC	brain:	n/a
10	chr16:70714606-70714656	SK-N-SH	brain:	n/a
11	chr16:70719277-70719327	GM12892	blood:	n/a
12	chr16:70721696-70721746	IMR90	lung:	fetal
13	chr16:70722454-70722504	PrEC	prostate:	n/a
14	chr16:70719115-70719165	U87	brain:	n/a
15	chr16:70720079-70720129	ECC-1	luminal epithelium:	n/a
16	chr16:70714606-70714656	HCF	heart:	n/a
17	chr16:70715140-70715190	H1-hESC	embryonic stem cell:	embryo
18	chr16:70720083-70720133	GM06990	blood:	n/a
19	chr16:70714606-70714656	IMR90	lung:	fetal
20	chr16:70720440-70720490	HEEpiC	esophagus:	n/a
21	chr16:70720083-70720133	Hela-S3	cervix:	n/a
22	chr16:70719277-70719327	SK-N-SH_RA	brain:	n/a
23	chr16:70720314-70720364	NH-A	brain:	n/a
24	chr16:70722454-70722504	MCF-7	breast:	n/a
25	chr16:70728425-70728475	HRCEpiC	kidney:	n/a
26	chr16:70728001-70728051	HPAEpiC	pulmonary alveolar:	n/a
27	chr16:70720149-70720199	SAEC	small airway:	n/a
28	chr16:70719115-70719165	HUVEC	blood vessel:	n/a
29	chr16:70715140-70715190	NH-A	brain:	n/a
30	chr16:70719115-70719165	AoSMC	blood vessel:	n/a
31	chr16:70720133-70720183	NHDF-neo	bronchial:	n/a
32	chr16:70720817-70720867	Hela-S3	cervix:	n/a
33	chr16:70720149-70720199	HEK293	kidney:	embryo
34	chr16:70720440-70720490	HL-60	blood:	n/a
35	chr16:70720817-70720867	NHBE	bronchial:	n/a
36	chr16:70720079-70720129	SK-N-SH	brain:	n/a
37	chr16:70720083-70720133	PFSK-1	brain:	n/a
38	chr16:70720083-70720133	CMK	blood:	n/a
39	chr16:70720817-70720867	HL-60	blood:	n/a
40	chr16:70714606-70714656	LNCaP	prostate:	n/a
41	chr16:70719277-70719327	HPAEpiC	pulmonary alveolar:	n/a
42	chr16:70720314-70720364	PFSK-1	brain:	n/a
43	chr16:70719277-70719327	AG09319	gingival:	n/a
44	chr16:70721696-70721746	SK-N-MC	brain:	n/a
45	chr16:70719115-70719165	BE2_C	brain:	n/a
46	chr16:70728425-70728475	HCF	heart:	n/a
47	chr16:70715140-70715190	Hela-S3	cervix:	n/a
48	chr16:70720314-70720364	GM12878	blood:	n/a
49	chr16:70719277-70719327	Caco-2	colon:	n/a
50	chr16:70720079-70720129	HIPEpiC	eye:	n/a

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70696022..70698192-chr16:70722301..70724411,2	K562	blood:
2	chr16:70709373..70712593-chr16:70717107..70721470,4	MCF-7	breast:
3	chr16:70716559..70717332-chr16:70780665..70781229,2	MCF-7	breast:
4	chr16:70685129..70687949-chr16:70714245..70716905,2	K562	blood:
5	chr16:70731234..70732060-chr16:70804672..70805218,2	MCF-7	breast:
6	chr16:70706397..70707963-chr16:70716501..70718128,2	K562	blood:
7	chr16:70694604..70697183-chr16:70727406..70729893,2	K562	blood:
8	chr1:28974074..28976735-chr16:70718527..70720954,2	K562	blood:
9	chr16:70716977..70720923-chr16:70779925..70783515,4	K562	blood:
10	chr16:70716977..70719990-chr16:70779925..70783515,4	K562	blood:
11	chr16:70557413..70558963-chr16:70714996..70717937,3	MCF-7	breast:
12	chr16:70716857..70722605-chr16:70776377..70783146,15	MCF-7	breast:
13	chr16:70704267..70706050-chr16:70717985..70719949,2	MCF-7	breast:
14	chr16:70730415..70732560-chr16:70741033..70742955,2	K562	blood:
15	chr16:70720725..70722557-chr16:70763820..70766425,2	MCF-7	breast:
16	chr16:70412847..70415449-chr16:70713492..70715384,2	MCF-7	breast:
17	chr16:70699407..70701314-chr16:70720329..70722044,2	MCF-7	breast:
18	chr16:70718434..70719938-chr16:70760026..70761921,2	K562	blood:
19	chr16:70555851..70557474-chr16:70727939..70730719,2	MCF-7	breast:
20	chr16:70728939..70732766-chr16:70778342..70782420,7	MCF-7	breast:
21	chr16:70713469..70715146-chr16:70778729..70780747,2	MCF-7	breast:
22	chr16:70555634..70562342-chr16:70718026..70723686,6	MCF-7	breast:
23	chr16:70557802..70559378-chr16:70727499..70729855,2	MCF-7	breast:
24	chr16:70724785..70727476-chr16:70778008..70779690,2	MCF-7	breast:
25	chr16:70414936..70416804-chr16:70716789..70719608,2	MCF-7	breast:
26	chr16:70731581..70732230-chr16:70771694..70772666,3	MCF-7	breast:
27	chr16:70715953..70716889-chr16:70771993..70772575,2	MCF-7	breast:
28	chr16:70716365..70717299-chr16:70804366..70805252,2	MCF-7	breast:
29	chr16:70731211..70733556-chr16:70795711..70798621,2	MCF-7	breast:
30	chr16:69758592..69760994-chr16:70729394..70731021,2	K562	blood:
31	chr16:70725942..70727688-chr16:70759419..70762080,2	K562	blood:
32	chr16:70716277..70717237-chr16:70772051..70772899,4	MCF-7	breast:
33	chr16:70726776..70729774-chr16:70778926..70781727,2	K562	blood:
34	chr16:70717596..70719954-chr16:70769240..70771432,3	K562	blood:
35	chr16:70710502..70716221-chr16:70726302..70731102,7	K562	blood:
36	chr16:70714365..70716642-chr16:70800502..70803105,2	K562	blood:
37	chr16:70731044..70733238-chr16:70775632..70778039,2	MCF-7	breast:
38	chr16:70729813..70732672-chr16:70787716..70789495,2	MCF-7	breast:
39	chr16:70721359..70722001-chr16:70804625..70805130,2	NB4	blood:
40	chr16:70728125..70734937-chr16:70778355..70783574,11	MCF-7	breast:
41	chr16:70714005..70714508-chr16:70796535..70797094,2	K562	blood:
42	chr16:70717368..70719959-chr16:70834400..70837024,2	MCF-7	breast:
43	chr16:70715424..70721545-chr16:70778213..70783786,16	MCF-7	breast:
44	chr16:70710502..70716221-chr16:70726302..70731102,7	K562	blood:

No data

Variant related genes	Relation type
MTSS1L	TF binding region
VAC14	TF binding region
MTSS1L	CpG island
VAC14	CpG island
ENSG00000181019	chromatin interactions
ENSG00000103051	chromatin interactions
ENSG00000189091	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000103043	chromatin interactions
ENSG00000132613	chromatin interactions
ENSG00000260111	chromatin interactions
ENSG00000262890	chromatin interactions
ENSG00000262136	chromatin interactions
ENSG00000268927	chromatin interactions
ENSG00000260156	chromatin interactions
ENSG00000214353	chromatin interactions

Extended variants
information (count: 702 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:702 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11075778	chr16:70714434-70714435	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557745947	chr16:70714451-70714452	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs193072182	chr16:70714472-70714473	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs554370070	chr16:70714481-70714482	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs144876185	chr16:70714529-70714530	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs12445563	chr16:70714569-70714570	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs11643085	chr16:70714584-70714585	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs112034943	chr16:70714595-70714596	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs148617870	chr16:70714606-70714607	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs556106494	chr16:70714615-70714616	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs553090450	chr16:70714685-70714686	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs375641443	chr16:70714686-70714687	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs371115949	chr16:70714694-70714695	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs149864208	chr16:70714719-70714720	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs185305754	chr16:70714788-70714789	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs145311490	chr16:70714796-70714797	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs563720372	chr16:70714800-70714801	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs530775942	chr16:70714811-70714812	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs201953010	chr16:70714812-70714813	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs370944487	chr16:70714814-70714815	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs561940484	chr16:70714875-70714876	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs368859448	chr16:70714888-70714889	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs145807778	chr16:70714916-70714917	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs201351382	chr16:70714934-70714935	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs207476142	chr16:70714942-70714943	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs547606872	chr16:70714963-70714964	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs374034863	chr16:70714968-70714969	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs543563574	chr16:70714992-70714993	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs142078141	chr16:70714993-70714994	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs11862154	chr16:70715023-70715024	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs11862112	chr16:70715078-70715079	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs146691750	chr16:70715089-70715090	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs549680954	chr16:70715122-70715123	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs567610024	chr16:70715137-70715138	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs545829933	chr16:70715179-70715180	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs534945198	chr16:70715203-70715204	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs4985558	chr16:70715247-70715248	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs371944066	chr16:70715249-70715250	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs113227609	chr16:70715253-70715254	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs376263518	chr16:70715296-70715297	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs553153718	chr16:70715317-70715318	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs189136322	chr16:70715331-70715332	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs539136938	chr16:70715347-70715348	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs557157479	chr16:70715377-70715378	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs116601370	chr16:70715419-70715420	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs140312237	chr16:70715428-70715429	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs562005007	chr16:70715491-70715492	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs573995991	chr16:70715568-70715569	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs541284156	chr16:70715604-70715605	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs559612505	chr16:70715660-70715661	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	21909424	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1418 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70688400-70715000	Weak transcription	Stomach Mucosa	stomach
2	chr16:70694600-70720200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:70695600-70714600	Strong transcription	Liver	Liver
4	chr16:70700400-70718800	Weak transcription	Small Intestine	intestine
5	chr16:70703000-70715200	Strong transcription	Thymus	Thymus
6	chr16:70703000-70717800	Weak transcription	Hela-S3	cervix
7	chr16:70703800-70714600	Strong transcription	Dnd41	blood
8	chr16:70704600-70715400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:70705200-70715200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr16:70705800-70715400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr16:70708000-70718600	Weak transcription	Fetal Kidney	kidney
12	chr16:70708200-70714600	Strong transcription	Gastric	stomach
13	chr16:70708800-70715400	Weak transcription	Psoas Muscle	Psoas
14	chr16:70710000-70718600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr16:70710600-70714800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr16:70710800-70715200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr16:70711000-70715200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr16:70711000-70715400	Weak transcription	NH-A	brain
19	chr16:70711000-70716000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr16:70711000-70717800	Enhancers	Fetal Heart	heart
21	chr16:70711000-70718800	Weak transcription	Primary T cells from cord blood	blood
22	chr16:70711400-70715200	Genic enhancers	Spleen	Spleen
23	chr16:70711800-70719000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr16:70712200-70715200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
25	chr16:70712200-70718600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr16:70712400-70718600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr16:70712600-70715200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr16:70712600-70717600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr16:70712600-70717600	Genic enhancers	Fetal Muscle Leg	muscle
30	chr16:70712800-70717000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr16:70712800-70717000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr16:70713200-70715000	Weak transcription	HSMMtube	muscle
33	chr16:70713200-70715200	Weak transcription	Aorta	Aorta
34	chr16:70713200-70715400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr16:70713200-70718600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr16:70713400-70714800	Genic enhancers	Colonic Mucosa	Colon
37	chr16:70713400-70714800	Weak transcription	Pancreas	Pancrea
38	chr16:70713400-70715000	Weak transcription	HSMM	muscle
39	chr16:70713400-70715000	Genic enhancers	NHLF	lung
40	chr16:70713400-70715200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr16:70713400-70715800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr16:70713400-70716000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr16:70713400-70716200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr16:70713400-70717200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr16:70713400-70718400	Weak transcription	K562	blood
46	chr16:70713600-70714600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr16:70713600-70715000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr16:70713600-70715400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr16:70713600-70717800	Genic enhancers	Fetal Stomach	stomach
50	chr16:70713800-70715000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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