Variant report

Variant	nsv906926
Chromosome Location	chr16:75549885-75580117
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1017)
CpG islands
(count:1343)
Chromatin interactive
region (count:66)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1017 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:75561718-75562303	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:75551252-75551631	HepG2	liver:	n/a	n/a
3	ARID3A	chr16:75551044-75551602	K562	blood:	n/a	n/a
4	ATF1	chr16:75551026-75551543	K562	blood:	n/a	n/a
5	ATF2	chr16:75551161-75551633	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr16:75550916-75551679	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr16:75551025-75551513	K562	blood:	n/a	chr16:75551099-75551107
8	BACH1	chr16:75550536-75551659	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr16:75549927-75550130	GM12878	blood:	n/a	n/a
10	BATF	chr16:75549905-75550229	GM12878	blood:	n/a	n/a
11	BCL3	chr16:75551134-75551652	A549	lung:	n/a	chr16:75551309-75551322
12	BCLAF1	chr16:75551137-75551633	GM12878	blood:	n/a	chr16:75551309-75551322
13	BHLHE40	chr16:75559972-75560220	K562	blood:	n/a	n/a
14	BHLHE40	chr16:75551026-75551554	HepG2	liver:	n/a	chr16:75551106-75551122 chr16:75551188-75551204 chr16:75551304-75551320
15	BHLHE40	chr16:75550976-75551669	K562	blood:	n/a	chr16:75551106-75551122 chr16:75551188-75551204 chr16:75551304-75551320
16	BHLHE40	chr16:75551111-75551605	GM12878	blood:	n/a	chr16:75551188-75551204 chr16:75551304-75551320
17	BHLHE40	chr16:75563977-75564136	K562	blood:	n/a	n/a
18	BRCA1	chr16:75550999-75551543	H1-hESC	embryonic stem cell:	n/a	n/a
19	BRCA1	chr16:75551050-75551564	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr16:75551105-75551472	HepG2	liver:	n/a	n/a
21	CBX3	chr16:75550890-75551727	K562	blood:	n/a	n/a
22	CBX3	chr16:75551286-75551594	K562	blood:	n/a	n/a
23	CCNT2	chr16:75550657-75551545	K562	blood:	n/a	n/a
24	CEBPB	chr16:75565147-75565217	K562	blood:	n/a	n/a
25	CEBPB	chr16:75551031-75551702	A549	lung:	n/a	n/a
26	CEBPB	chr16:75551157-75551546	IMR90	lung:	n/a	n/a
27	CEBPB	chr16:75551030-75551578	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr16:75551075-75551669	MCF-7	breast:	n/a	n/a
29	CEBPB	chr16:75551058-75551684	ECC-1	luminal epithelium:	n/a	n/a
30	CEBPB	chr16:75551152-75551590	HepG2	liver:	n/a	n/a
31	CEBPB	chr16:75551207-75551516	ECC-1	luminal epithelium:	n/a	n/a
32	CEBPB	chr16:75551132-75551669	K562	blood:	n/a	n/a
33	CEBPB	chr16:75551177-75551535	A549	lung:	n/a	n/a
34	CEBPB	chr16:75551061-75551586	K562	blood:	n/a	n/a
35	CEBPB	chr16:75551035-75551597	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr16:75555448-75555497	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr16:75551233-75551462	K562	blood:	n/a	n/a
38	CEBPB	chr16:75551163-75551617	HepG2	liver:	n/a	n/a
39	CEBPB	chr16:75551235-75551481	HepG2	liver:	n/a	n/a
40	CEBPD	chr16:75550867-75551552	HepG2	liver:	n/a	n/a
41	CEBPD	chr16:75551058-75551537	HepG2	liver:	n/a	n/a
42	CHD1	chr16:75550589-75551599	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD1	chr16:75551417-75551611	GM12878	blood:	n/a	n/a
44	CHD2	chr16:75550928-75551608	K562	blood:	n/a	n/a
45	CHD2	chr16:75550685-75550688	Hela-S3	cervix:	n/a	n/a
46	CHD2	chr16:75551010-75551575	Hela-S3	cervix:	n/a	n/a
47	CHD2	chr16:75550933-75551645	GM12878	blood:	n/a	n/a
48	CHD2	chr16:75551089-75551534	HepG2	liver:	n/a	n/a
49	CHD2	chr16:75550901-75551616	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr16:75550866-75551682	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1343 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:75568999-75569049	SK-N-MC	brain:	n/a
2	chr16:75568999-75569049	SK-N-MC	brain:	n/a
3	chr16:75564221-75564271	AG10803	skin:	n/a
4	chr16:75569459-75569509	IMR90	lung:	fetal
5	chr16:75569527-75569577	HCF	heart:	n/a
6	chr16:75575906-75575956	HCM	heart:	n/a
7	chr16:75572883-75572933	ProgFib	skin:	n/a
8	chr16:75575906-75575956	PFSK-1	brain:	n/a
9	chr16:75563280-75563330	HRPEpiC	eye:	n/a
10	chr16:75563901-75563951	HRPEpiC	eye:	n/a
11	chr16:75563009-75563059	AG04449	skin:	fetal
12	chr16:75551144-75551194	K562	blood:	n/a
13	chr16:75569164-75569214	RPTEC	kidney:	n/a
14	chr16:75563114-75563164	HIPEpiC	eye:	n/a
15	chr16:75563114-75563164	ECC-1	luminal epithelium:	n/a
16	chr16:75575906-75575956	ProgFib	skin:	n/a
17	chr16:75550927-75550977	SK-N-SH	brain:	n/a
18	chr16:75550927-75550977	HUVEC	blood vessel:	n/a
19	chr16:75563901-75563951	GM12891	blood:	n/a
20	chr16:75568999-75569049	Caco-2	colon:	n/a
21	chr16:75569527-75569577	Hepatocyte	liver:	n/a
22	chr16:75563280-75563330	HRE	kidney:	n/a
23	chr16:75551144-75551194	GM12878	blood:	n/a
24	chr16:75563280-75563330	HepG2	liver:	n/a
25	chr16:75569459-75569509	PANC-1	pancreas:	n/a
26	chr16:75550927-75550977	HAEpiC	amniotic membrane:	n/a
27	chr16:75566465-75566515	NHBE	bronchial:	n/a
28	chr16:75550118-75550168	NH-A	brain:	n/a
29	chr16:75569852-75569902	NHDF-neo	bronchial:	n/a
30	chr16:75564221-75564271	GM12892	blood:	n/a
31	chr16:75569852-75569902	NHBE	bronchial:	n/a
32	chr16:75563901-75563951	HL-60	blood:	n/a
33	chr16:75551481-75551531	SK-N-MC	brain:	n/a
34	chr16:75554060-75554110	NHDF-neo	bronchial:	n/a
35	chr16:75566465-75566515	SK-N-SH	brain:	n/a
36	chr16:75563489-75563539	HAEpiC	amniotic membrane:	n/a
37	chr16:75550676-75550726	H1-hESC	embryonic stem cell:	embryo
38	chr16:75559912-75559962	BE2_C	brain:	n/a
39	chr16:75554060-75554110	AoSMC	blood vessel:	n/a
40	chr16:75550118-75550168	ProgFib	skin:	n/a
41	chr16:75569852-75569902	LNCaP	prostate:	n/a
42	chr16:75572883-75572933	HUVEC	blood vessel:	n/a
43	chr16:75551144-75551194	RPTEC	kidney:	n/a
44	chr16:75563901-75563951	PFSK-1	brain:	n/a
45	chr16:75550927-75550977	GM19239	blood:	n/a
46	chr16:75550927-75550977	GM06990	blood:	n/a
47	chr16:75569852-75569902	ECC-1	luminal epithelium:	n/a
48	chr16:75564221-75564271	ECC-1	luminal epithelium:	n/a
49	chr16:75569527-75569577	SAEC	small airway:	n/a
50	chr16:75564221-75564271	AG04449	skin:	fetal

(count:66 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:154155243..154155810-chr16:75550915..75551583,2	Hela-S3	cervix:
2	chr16:75576612..75578705-chr16:75660423..75663143,2	K562	blood:
3	chr16:75553671..75555315-chr16:75557566..75560051,2	K562	blood:
4	chr16:75549910..75552098-chr16:75575318..75577076,2	MCF-7	breast:
5	chr16:75466031..75468931-chr16:75549812..75551653,2	K562	blood:
6	chr16:75549686..75552508-chr16:75588605..75590350,2	MCF-7	breast:
7	chr16:75498381..75499126-chr16:75550587..75551534,2	K562	blood:
8	chr16:75560467..75563051-chr16:75574303..75577807,3	K562	blood:
9	chr16:75564501..75567219-chr16:75571368..75573194,2	K562	blood:
10	chr16:75550093..75552662-chr16:75555464..75560053,5	MCF-7	breast:
11	chr16:75497002..75498653-chr16:75549372..75551463,2	K562	blood:
12	chr16:75549952..75552218-chr16:75681885..75683701,2	K562	blood:
13	chr11:65271441..65272209-chr16:75551020..75551636,2	Hela-S3	cervix:
14	chr16:75465566..75468619-chr16:75548282..75552307,4	MCF-7	breast:
15	chr16:75538570..75543222-chr16:75547718..75552328,5	MCF-7	breast:
16	chr16:75574262..75576234-chr16:75588612..75590836,2	MCF-7	breast:
17	chr16:75550465..75552637-chr16:75558863..75560839,2	K562	blood:
18	chr16:75554986..75555868-chr16:75797911..75798528,2	MCF-7	breast:
19	chr16:75539387..75542121-chr16:75553084..75554957,2	MCF-7	breast:
20	chr16:75574159..75575888-chr16:75581471..75583351,2	K562	blood:
21	chr16:75555207..75556271-chr16:75583820..75584762,4	MCF-7	breast:
22	chr16:75496672..75499382-chr16:75549463..75551344,4	MCF-7	breast:
23	chr16:75505099..75506340-chr16:75550615..75551890,14	MCF-7	breast:
24	chr16:75564501..75567085-chr16:75571192..75573194,2	K562	blood:
25	chr16:75555083..75558060-chr16:75589292..75591957,2	MCF-7	breast:
26	chr16:75497768..75499173-chr16:75550502..75551937,8	MCF-7	breast:
27	chr16:75566186..75568910-chr16:75569034..75571524,2	MCF-7	breast:
28	chr16:75563203..75565512-chr16:75568208..75570282,2	K562	blood:
29	chr16:75574449..75576989-chr16:75588011..75589806,2	K562	blood:
30	chr16:75550007..75552554-chr16:75597669..75600323,2	MCF-7	breast:
31	chr16:75466874..75467584-chr16:75551355..75551855,2	K562	blood:
32	chr16:75550671..75551452-chr22:50247463..50248018,2	HCT-116	colon:
33	chr16:75536938..75540823-chr16:75549516..75552807,4	MCF-7	breast:
34	chr16:75550465..75552637-chr16:75558863..75560839,2	K562	blood:
35	chr16:75550692..75551663-chrX:24073311..24074062,2	Hela-S3	cervix:
36	chr1:20834189..20834981-chr16:75550708..75551438,2	Hela-S3	cervix:
37	chr16:75525799..75526656-chr16:75550606..75551571,3	MCF-7	breast:
38	chr16:75572249..75573874-chr16:75680228..75682477,2	MCF-7	breast:
39	chr16:75505348..75506153-chr16:75551055..75551869,3	MCF-7	breast:
40	chr16:75548080..75552218-chr16:75679936..75683385,4	K562	blood:
41	chr16:75549705..75551956-chr16:75553998..75556744,2	K562	blood:
42	chr16:75533525..75534182-chr16:75573663..75574408,2	MCF-7	breast:
43	chr16:75549910..75552098-chr16:75575318..75577076,2	MCF-7	breast:
44	chr16:75554663..75556998-chr16:75557661..75561177,3	MCF-7	breast:
45	chr16:75537791..75540090-chr16:75550427..75552739,2	K562	blood:
46	chr16:75497125..75499382-chr16:75564750..75566395,2	MCF-7	breast:
47	chr16:75551190..75551731-chr16:75654745..75655449,2	K562	blood:
48	chr16:75505622..75506307-chr16:75550967..75551855,3	K562	blood:
49	chr16:75510774..75513332-chr16:75550628..75552832,2	MCF-7	breast:
50	chr16:75549848..75551982-chr16:75681662..75683251,3	MCF-7	breast:

No data

Variant related genes	Relation type
CHST5	TF binding region
ENSG00000262583	TF binding region
TMEM231	TF binding region
ENSG00000260092	TF binding region
CHST5	CpG island
ENSG00000262583	CpG island
TMEM231	CpG island
ENSG00000260092	CpG island
ENSG00000050820	chromatin interactions
ENSG00000205084	chromatin interactions
ENSG00000075624	chromatin interactions
ENSG00000065427	chromatin interactions
ENSG00000135702	chromatin interactions
ENSG00000166848	chromatin interactions
ENSG00000143549	chromatin interactions
ENSG00000166822	chromatin interactions
ENSG00000262583	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000264229	chromatin interactions
ENSG00000074054	chromatin interactions
ENSG00000100426	chromatin interactions
ENSG00000261717	chromatin interactions
ENSG00000153774	chromatin interactions
ENSG00000090432	chromatin interactions
ENSG00000034713	chromatin interactions

Extended variants
information (count: 1520 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1520 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7197382	chr16:75549885-75549886	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs112902412	chr16:75549888-75549889	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs530841602	chr16:75549910-75549911	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs182643921	chr16:75549917-75549918	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs571316336	chr16:75549921-75549922	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs185888375	chr16:75549924-75549925	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs534008735	chr16:75549951-75549952	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs535869413	chr16:75549959-75549960	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs77295402	chr16:75549981-75549982	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs111552642	chr16:75550022-75550023	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs191399754	chr16:75550030-75550031	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs547351496	chr16:75550032-75550033	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs546273711	chr16:75550044-75550045	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs183713251	chr16:75550094-75550095	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs142130429	chr16:75550112-75550113	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs112808027	chr16:75550123-75550124	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs575816023	chr16:75550127-75550128	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs188640957	chr16:75550146-75550147	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs7195898	chr16:75550172-75550173	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs375518687	chr16:75550187-75550188	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs373088418	chr16:75550216-75550217	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs200123568	chr16:75550229-75550230	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs540673815	chr16:75550266-75550267	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs560567643	chr16:75550282-75550283	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs193277472	chr16:75550310-75550311	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs545185808	chr16:75550323-75550324	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs565102113	chr16:75550370-75550371	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs530687114	chr16:75550452-75550453	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs537912077	chr16:75550453-75550454	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs2650400	chr16:75550537-75550538	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs184022444	chr16:75550539-75550540	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs529631168	chr16:75550576-75550577	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs374980660	chr16:75550653-75550654	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs117107864	chr16:75550660-75550661	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs538355254	chr16:75550676-75550677	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs552468094	chr16:75550679-75550680	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs569412465	chr16:75550690-75550691	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs538090655	chr16:75550701-75550702	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs578088419	chr16:75550717-75550718	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs540851436	chr16:75550724-75550725	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
41	rs567272222	chr16:75550735-75550736	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
42	rs370177024	chr16:75550762-75550763	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
43	rs374475898	chr16:75550777-75550778	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
44	rs368569434	chr16:75550807-75550808	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
45	rs534137562	chr16:75550911-75550912	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
46	rs554219939	chr16:75550920-75550921	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
47	rs577375709	chr16:75550943-75550944	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
48	rs560398369	chr16:75550952-75550953	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
49	rs35127517	chr16:75550956-75550957	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
50	rs563323183	chr16:75551007-75551008	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Breast cancer	17603634	CNVD
Prostate cancer	16573809	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 lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:731 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75529400-75550000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr16:75529800-75550200	Weak transcription	Spleen	Spleen
3	chr16:75532800-75550400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr16:75533800-75550200	Weak transcription	Small Intestine	intestine
5	chr16:75534200-75550400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr16:75534400-75550600	Weak transcription	Aorta	Aorta
7	chr16:75535600-75550200	Weak transcription	Brain Hippocampus Middle	brain
8	chr16:75536000-75550200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr16:75536200-75550000	Weak transcription	Colon Smooth Muscle	Colon
10	chr16:75536400-75550000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr16:75536400-75550000	Weak transcription	Brain Substantia Nigra	brain
12	chr16:75538000-75550000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr16:75538400-75550200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr16:75540400-75550000	Weak transcription	Colonic Mucosa	Colon
15	chr16:75540800-75550200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr16:75541000-75550200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr16:75541000-75550200	Weak transcription	HSMM	muscle
18	chr16:75541400-75550200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr16:75542000-75550200	Weak transcription	Esophagus	oesophagus
20	chr16:75542800-75550000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr16:75543400-75550000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr16:75543800-75550000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr16:75543800-75550000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr16:75543800-75550000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr16:75543800-75550000	Weak transcription	Osteobl	bone
26	chr16:75544000-75550000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr16:75544200-75550200	Weak transcription	Hela-S3	cervix
28	chr16:75544200-75550200	Weak transcription	K562	blood
29	chr16:75545200-75550000	Weak transcription	Fetal Stomach	stomach
30	chr16:75545400-75550000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr16:75546000-75550200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr16:75546600-75550000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr16:75546600-75550200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr16:75548400-75550000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr16:75549600-75550000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr16:75549600-75550000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr16:75549600-75550000	Enhancers	HepG2	liver
38	chr16:75549600-75550400	Enhancers	Primary T cells fromperipheralblood	blood
39	chr16:75549800-75550000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr16:75549800-75550000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr16:75549800-75550000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
42	chr16:75549800-75550000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr16:75549800-75550000	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr16:75549800-75550000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr16:75549800-75550000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr16:75549800-75550000	Enhancers	Brain Anterior Caudate	brain
47	chr16:75549800-75550000	Enhancers	Fetal Heart	heart
48	chr16:75549800-75550000	Enhancers	Fetal Intestine Large	intestine
49	chr16:75549800-75550000	Enhancers	Fetal Kidney	kidney
50	chr16:75549800-75550000	Enhancers	Stomach Smooth Muscle	stomach

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