Variant report

Variant	esv3405809
Chromosome Location	chr16:48642876-48645424
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	chr16:48644108-48644582	K562	blood:	n/a	n/a
2	ARID3A	chr16:48643697-48643805	HepG2	liver:	n/a	n/a
3	ARID3A	chr16:48644037-48644641	HepG2	liver:	n/a	n/a
4	ATF1	chr16:48644014-48644523	K562	blood:	n/a	n/a
5	ATF2	chr16:48643986-48644581	GM12878	blood:	n/a	chr16:48644206-48644217
6	ATF2	chr16:48644043-48644423	H1-hESC	embryonic stem cell:	n/a	chr16:48644206-48644217
7	ATF2	chr16:48642308-48642876	GM12878	blood:	n/a	n/a
8	ATF2	chr16:48644005-48644463	H1-hESC	embryonic stem cell:	n/a	chr16:48644206-48644217
9	ATF2	chr16:48643974-48644481	GM12878	blood:	n/a	chr16:48644206-48644217
10	ATF3	chr16:48643999-48644396	HepG2	liver:	n/a	chr16:48644206-48644217 chr16:48644207-48644227 chr16:48644208-48644216 chr16:48644208-48644219 chr16:48644205-48644216 chr16:48644204-48644219 chr16:48644206-48644217 chr16:48644196-48644216 chr16:48644208-48644215 chr16:48644207-48644218
11	ATF3	chr16:48643929-48644452	GM12878	blood:	n/a	chr16:48644206-48644217 chr16:48644207-48644227 chr16:48644208-48644216 chr16:48644208-48644219 chr16:48644205-48644216 chr16:48644204-48644219 chr16:48644206-48644217 chr16:48644196-48644216 chr16:48644208-48644215 chr16:48644207-48644218
12	ATF3	chr16:48644003-48644404	K562	blood:	n/a	chr16:48644206-48644217 chr16:48644207-48644227 chr16:48644208-48644216 chr16:48644208-48644219 chr16:48644205-48644216 chr16:48644204-48644219 chr16:48644206-48644217 chr16:48644196-48644216 chr16:48644208-48644215 chr16:48644207-48644218
13	ATF3	chr16:48643927-48644382	HepG2	liver:	n/a	chr16:48644206-48644217 chr16:48644207-48644227 chr16:48644208-48644216 chr16:48644208-48644219 chr16:48644205-48644216 chr16:48644204-48644219 chr16:48644206-48644217 chr16:48644196-48644216 chr16:48644208-48644215 chr16:48644207-48644218
14	ATF3	chr16:48643916-48644453	A549	lung:	n/a	chr16:48644206-48644217 chr16:48644207-48644227 chr16:48644208-48644216 chr16:48644208-48644219 chr16:48644205-48644216 chr16:48644204-48644219 chr16:48644206-48644217 chr16:48644196-48644216 chr16:48644208-48644215 chr16:48644207-48644218
15	ATF3	chr16:48644036-48644437	K562	blood:	n/a	chr16:48644206-48644217 chr16:48644207-48644227 chr16:48644208-48644216 chr16:48644208-48644219 chr16:48644205-48644216 chr16:48644204-48644219 chr16:48644206-48644217 chr16:48644196-48644216 chr16:48644208-48644215 chr16:48644207-48644218
16	ATF3	chr16:48644053-48644465	H1-hESC	embryonic stem cell:	n/a	chr16:48644206-48644217 chr16:48644207-48644227 chr16:48644208-48644216 chr16:48644208-48644219 chr16:48644205-48644216 chr16:48644204-48644219 chr16:48644206-48644217 chr16:48644196-48644216 chr16:48644208-48644215 chr16:48644207-48644218
17	ATF3	chr16:48644007-48644323	GM12878	blood:	n/a	chr16:48644206-48644217 chr16:48644207-48644227 chr16:48644208-48644216 chr16:48644208-48644219 chr16:48644205-48644216 chr16:48644204-48644219 chr16:48644206-48644217 chr16:48644196-48644216 chr16:48644208-48644215 chr16:48644207-48644218
18	ATF3	chr16:48643975-48644374	H1-hESC	embryonic stem cell:	n/a	chr16:48644206-48644217 chr16:48644207-48644227 chr16:48644208-48644216 chr16:48644208-48644219 chr16:48644205-48644216 chr16:48644204-48644219 chr16:48644206-48644217 chr16:48644196-48644216 chr16:48644208-48644215 chr16:48644207-48644218
19	BCL3	chr16:48644104-48644643	A549	lung:	n/a	n/a
20	BHLHE40	chr16:48644040-48644544	GM12878	blood:	n/a	n/a
21	BHLHE40	chr16:48643325-48643734	GM12878	blood:	n/a	n/a
22	BHLHE40	chr16:48643265-48644401	K562	blood:	n/a	n/a
23	BRCA1	chr16:48643698-48643811	GM12878	blood:	n/a	n/a
24	BRCA1	chr16:48644017-48644592	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr16:48643302-48643567	H1-hESC	embryonic stem cell:	n/a	n/a
26	BRCA1	chr16:48644053-48644482	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr16:48643809-48643812	HepG2	liver:	n/a	n/a
28	BRCA1	chr16:48644065-48644356	HepG2	liver:	n/a	n/a
29	CBX3	chr16:48644060-48644433	K562	blood:	n/a	n/a
30	CCNT2	chr16:48643266-48644310	K562	blood:	n/a	chr16:48643608-48643617 chr16:48643338-48643347
31	CEBPB	chr16:48644903-48645007	HepG2	liver:	n/a	chr16:48644922-48644933
32	CEBPB	chr16:48644807-48646004	K562	blood:	n/a	chr16:48645412-48645425 chr16:48645461-48645474 chr16:48645461-48645472 chr16:48644922-48644933
33	CEBPB	chr16:48645369-48645596	HepG2	liver:	n/a	chr16:48645412-48645425 chr16:48645461-48645474 chr16:48645461-48645472
34	CEBPB	chr16:48644746-48645090	A549	lung:	n/a	chr16:48644922-48644933
35	CEBPB	chr16:48645327-48646067	A549	lung:	n/a	chr16:48645412-48645425 chr16:48645461-48645474 chr16:48645461-48645472 chr16:48646026-48646039
36	CEBPB	chr16:48645358-48645570	Hela-S3	cervix:	n/a	chr16:48645412-48645425 chr16:48645461-48645474 chr16:48645461-48645472
37	CEBPB	chr16:48644074-48644552	K562	blood:	n/a	n/a
38	CEBPB	chr16:48645364-48646019	HepG2	liver:	n/a	chr16:48645412-48645425 chr16:48645461-48645474 chr16:48645461-48645472
39	CEBPB	chr16:48645301-48646079	HepG2	liver:	n/a	chr16:48645412-48645425 chr16:48645461-48645474 chr16:48645461-48645472 chr16:48646026-48646039
40	CEBPB	chr16:48644062-48644253	IMR90	lung:	n/a	n/a
41	CEBPB	chr16:48645336-48645976	HepG2	liver:	n/a	chr16:48645412-48645425 chr16:48645461-48645474 chr16:48645461-48645472
42	CEBPD	chr16:48643824-48644379	HepG2	liver:	n/a	n/a
43	CHD1	chr16:48642646-48644776	IMR90	lung:	n/a	chr16:48643609-48643619
44	CHD1	chr16:48644061-48644691	GM12878	blood:	n/a	n/a
45	CHD1	chr16:48642507-48643093	GM12878	blood:	n/a	n/a
46	CHD1	chr16:48643202-48643497	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD1	chr16:48644127-48644698	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD1	chr16:48643311-48643852	GM12878	blood:	n/a	chr16:48643609-48643619
49	CHD2	chr16:48643261-48643550	HepG2	liver:	n/a	n/a
50	CHD2	chr16:48643335-48643567	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:48644020-48644070	HCM	heart:	n/a
2	chr16:48643813-48643863	HL-60	blood:	n/a
3	chr16:48644020-48644070	AG09309	skin:	n/a
4	chr16:48643924-48643974	AG04449	skin:	fetal
5	chr16:48644360-48644410	ovcar-3	ovarian:	n/a
6	chr16:48643924-48643974	HCF	heart:	n/a
7	chr16:48644408-48644458	AG04449	skin:	fetal
8	chr16:48644211-48644261	Jurkat	blood:	n/a
9	chr16:48644408-48644458	HAEpiC	amniotic membrane:	n/a
10	chr16:48644360-48644410	NT2-D1	testis:	n/a
11	chr16:48644408-48644458	K562	blood:	n/a
12	chr16:48643305-48643355	ProgFib	skin:	n/a
13	chr16:48644016-48644066	HPAEpiC	pulmonary alveolar:	n/a
14	chr16:48643813-48643863	SK-N-SH	brain:	n/a
15	chr16:48643813-48643863	T-47D	breast:	n/a
16	chr16:48644211-48644261	NB4	blood:	n/a
17	chr16:48644020-48644070	ovcar-3	ovarian:	n/a
18	chr16:48643924-48643974	AG09309	skin:	n/a
19	chr16:48644198-48644248	IMR90	lung:	fetal
20	chr16:48644408-48644458	GM12878	blood:	n/a
21	chr16:48643813-48643863	HUVEC	blood vessel:	n/a
22	chr16:48644211-48644261	SK-N-SH_RA	brain:	n/a
23	chr16:48645051-48645101	AG09309	skin:	n/a
24	chr16:48645051-48645101	HAEpiC	amniotic membrane:	n/a
25	chr16:48643305-48643355	HRE	kidney:	n/a
26	chr16:48643924-48643974	RPTEC	kidney:	n/a
27	chr16:48644449-48644499	Caco-2	colon:	n/a
28	chr16:48645051-48645101	NT2-D1	testis:	n/a
29	chr16:48644211-48644261	ovcar-3	ovarian:	n/a
30	chr16:48644360-48644410	HCT-116	colon:	n/a
31	chr16:48644360-48644410	GM12891	blood:	n/a
32	chr16:48644449-48644499	ovcar-3	ovarian:	n/a
33	chr16:48643813-48643863	HIPEpiC	eye:	n/a
34	chr16:48643305-48643355	HEEpiC	esophagus:	n/a
35	chr16:48643305-48643355	HRCEpiC	kidney:	n/a
36	chr16:48644016-48644066	AoSMC	blood vessel:	n/a
37	chr16:48644449-48644499	HUVEC	blood vessel:	n/a
38	chr16:48644449-48644499	HL-60	blood:	n/a
39	chr16:48643813-48643863	GM12892	blood:	n/a
40	chr16:48644198-48644248	AG04450	lung:	fetal
41	chr16:48644020-48644070	RPTEC	kidney:	n/a
42	chr16:48644211-48644261	Hela-S3	cervix:	n/a
43	chr16:48644211-48644261	AG09309	skin:	n/a
44	chr16:48644198-48644248	NH-A	brain:	n/a
45	chr16:48645051-48645101	H1-hESC	embryonic stem cell:	embryo
46	chr16:48644449-48644499	NHBE	bronchial:	n/a
47	chr16:48644360-48644410	HEEpiC	esophagus:	n/a
48	chr16:48644020-48644070	BE2_C	brain:	n/a
49	chr16:48643305-48643355	NHDF-neo	bronchial:	n/a
50	chr16:48644449-48644499	HCT-116	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:48630551..48632810-chr16:48645142..48647127,2	MCF-7	breast:
2	chr16:48388738..48391229-chr16:48644579..48647444,2	MCF-7	breast:
3	chr16:48417956..48420702-chr16:48642244..48644303,3	K562	blood:
4	chr16:48290202..48292169-chr16:48641229..48643370,2	MCF-7	breast:
5	chr16:48591602..48593821-chr16:48642725..48645233,2	MCF-7	breast:
6	chr16:48642624..48645570-chr16:48653678..48655637,3	MCF-7	breast:
7	chr16:48636374..48639117-chr16:48642848..48644889,3	MCF-7	breast:
8	chr16:48611677..48614965-chr16:48642822..48645500,3	MCF-7	breast:
9	chr16:48417371..48420713-chr16:48642499..48645364,3	K562	blood:
10	chr1:45186967..45187640-chr16:48643672..48644651,2	HCT-116	colon:
11	chr16:48636348..48638874-chr16:48641230..48644046,3	MCF-7	breast:
12	chr16:48639871..48642943-chr16:48643346..48645873,3	MCF-7	breast:
13	chr16:48643658..48644234-chr6:26157660..26158431,2	Hela-S3	cervix:
14	chr16:48643546..48644221-chr8:80941965..80942535,2	Hela-S3	cervix:
15	chr16:48263677..48266264-chr16:48645386..48647099,2	MCF-7	breast:
16	chr16:48278224..48281613-chr16:48642327..48645557,3	MCF-7	breast:
17	chr16:48398982..48401730-chr16:48643542..48645764,2	K562	blood:
18	chr16:48418015..48420544-chr16:48643775..48645908,3	MCF-7	breast:
19	chr16:48576310..48578328-chr16:48641352..48644093,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LONP2-9	chr16:48644181-48644429	NONHSAT142349
2	lnc-LONP2-9	chr16:48644566-48644607	NONHSAT142349

Variant related genes	Relation type
N4BP1	TF binding region
N4BP1	CpG island
ENSG00000199377	chromatin interactions
ENSG00000102910	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000261267	chromatin interactions
ENSG00000102921	chromatin interactions
ENSG00000147586	chromatin interactions
ENSG00000121270	chromatin interactions
ENSG00000196470	chromatin interactions
ENSG00000243609	chromatin interactions
ENSG00000259912	chromatin interactions

Extended variants
information (count: 103 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116470660	chr16:48642892-48642893	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs565146042	chr16:48642918-48642919	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs1872652	chr16:48642928-48642929	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs5816600	chr16:48642960-48642961	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs544360318	chr16:48642990-48642991	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs146188686	chr16:48643006-48643007	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs372154756	chr16:48643019-48643020	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs527537804	chr16:48643081-48643082	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs560611046	chr16:48643124-48643125	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs532500040	chr16:48643154-48643155	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs552295710	chr16:48643173-48643174	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs569687545	chr16:48643200-48643201	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs113396808	chr16:48643206-48643207	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs569502751	chr16:48643248-48643249	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs538168865	chr16:48643249-48643250	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs548503673	chr16:48643272-48643273	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs568290807	chr16:48643277-48643278	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs368712067	chr16:48643292-48643293	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs534169014	chr16:48643300-48643301	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs552640626	chr16:48643346-48643347	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs143074217	chr16:48643369-48643370	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs566238859	chr16:48643370-48643371	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs76636962	chr16:48643372-48643373	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs1872653	chr16:48643435-48643436	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs386790523	chr16:48643453-48643454	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs113933278	chr16:48643454-48643455	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs575230549	chr16:48643488-48643489	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs544157386	chr16:48643530-48643531	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs371445057	chr16:48643531-48643532	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs143072279	chr16:48643610-48643611	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs376473924	chr16:48643632-48643633	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs374660707	chr16:48643640-48643641	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs146139081	chr16:48643662-48643663	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs560526805	chr16:48643673-48643674	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs532518469	chr16:48643677-48643678	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs115072363	chr16:48643719-48643720	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs76566729	chr16:48643740-48643741	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs531758656	chr16:48643812-48643813	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs548468094	chr16:48643834-48643835	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs369325022	chr16:48643877-48643878	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs548916626	chr16:48643878-48643879	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs527838158	chr16:48643912-48643913	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs547588118	chr16:48643998-48643999	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs566526923	chr16:48644098-48644099	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs142400566	chr16:48644109-48644110	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs558647816	chr16:48644154-48644155	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs150861075	chr16:48644157-48644158	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs35502819	chr16:48644179-48644180	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs537888943	chr16:48644189-48644190	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
50	rs115866924	chr16:48644196-48644197	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	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
Renal cell carcinoma	18765545	CNVD
Sudden cardiac death	19188705	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Colorectal cancer	19359472	CNVD
Olfactory neuroblastoma	18408657	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Disease	22140031	CNVD
Non-syndromic sensorineural hearing loss	22140031	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48640000-48643000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:48640000-48643000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:48640400-48643400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
4	chr16:48640600-48643000	Flanking Active TSS	HMEC	breast
5	chr16:48640800-48643400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr16:48641000-48643000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
7	chr16:48641000-48643200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr16:48641200-48643000	Flanking Active TSS	Fetal Brain Female	brain
9	chr16:48641200-48644600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:48641400-48643400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr16:48641600-48643000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr16:48641600-48643000	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr16:48641600-48643400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
14	chr16:48641600-48643400	Flanking Active TSS	Dnd41	blood
15	chr16:48641800-48643200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr16:48641800-48643400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr16:48641800-48644400	Active TSS	Stomach Mucosa	stomach
18	chr16:48641800-48644400	Active TSS	HSMMtube	muscle
19	chr16:48641800-48644800	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr16:48641800-48644800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr16:48641800-48644800	Active TSS	HSMM	muscle
22	chr16:48641800-48645200	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr16:48642000-48643000	Flanking Active TSS	HepG2	liver
24	chr16:48642000-48643200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr16:48642000-48643400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr16:48642000-48643400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr16:48642000-48643400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr16:48642000-48643600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr16:48642000-48643600	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr16:48642000-48644600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr16:48642000-48644600	Active TSS	Esophagus	oesophagus
32	chr16:48642000-48644800	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr16:48642200-48643000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr16:48642200-48643000	Flanking Active TSS	Liver	Liver
35	chr16:48642200-48643000	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr16:48642200-48643000	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr16:48642200-48643200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr16:48642200-48643400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr16:48642200-48643400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr16:48642200-48643400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr16:48642200-48644000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr16:48642200-48644800	Active TSS	H9 Cell Line	embryonic stem cell
43	chr16:48642200-48644800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr16:48642200-48644800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr16:48642400-48643000	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr16:48642400-48643000	Flanking Active TSS	Fetal Intestine Large	intestine
47	chr16:48642400-48643000	Flanking Active TSS	Fetal Thymus	thymus
48	chr16:48642400-48643000	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr16:48642400-48643000	Flanking Active TSS	Hela-S3	cervix
50	chr16:48642400-48643200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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