Variant report

Variant	nsv1061808
Chromosome Location	chr16:34441795-34739571
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1269)
CpG islands
(count:2136)
Chromatin interactive
region (count:3)
LncRNA
region (count:60)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1269 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr16:34573796-34574082	K562	blood:	n/a	n/a
2	ATF1	chr16:34589373-34589390	K562	blood:	n/a	n/a
3	ATF1	chr16:34574452-34574460	K562	blood:	n/a	n/a
4	ATF1	chr16:34643912-34644196	K562	blood:	n/a	n/a
5	ATF1	chr16:34486728-34487212	K562	blood:	n/a	n/a
6	ATF1	chr16:34715569-34715609	K562	blood:	n/a	n/a
7	ATF1	chr16:34625774-34626005	K562	blood:	n/a	n/a
8	BATF	chr16:34536693-34536965	GM12878	blood:	n/a	chr16:34536834-34536845
9	BATF	chr16:34731803-34731989	GM12878	blood:	n/a	chr16:34731883-34731894 chr16:34731915-34731926
10	BATF	chr16:34731793-34732055	GM12878	blood:	n/a	chr16:34731883-34731894 chr16:34731915-34731926
11	BATF	chr16:34539865-34540180	GM12878	blood:	n/a	chr16:34540044-34540055
12	BATF	chr16:34539887-34540221	GM12878	blood:	n/a	chr16:34540044-34540055
13	BHLHE40	chr16:34647001-34647022	GM12878	blood:	n/a	n/a
14	BHLHE40	chr16:34726730-34726951	K562	blood:	n/a	chr16:34726896-34726912
15	BHLHE40	chr16:34732021-34732023	GM12878	blood:	n/a	n/a
16	BHLHE40	chr16:34721874-34721912	GM12878	blood:	n/a	n/a
17	BHLHE40	chr16:34625806-34626006	GM12878	blood:	n/a	n/a
18	BHLHE40	chr16:34598011-34598017	K562	blood:	n/a	n/a
19	BHLHE40	chr16:34625401-34626021	K562	blood:	n/a	n/a
20	BRCA1	chr16:34666658-34666728	GM12878	blood:	n/a	n/a
21	BRCA1	chr16:34666402-34666616	H1-hESC	embryonic stem cell:	n/a	n/a
22	CBX3	chr16:34625799-34625988	K562	blood:	n/a	n/a
23	CEBPB	chr16:34540548-34540632	IMR90	lung:	n/a	n/a
24	CEBPB	chr16:34643905-34644193	A549	lung:	n/a	n/a
25	CEBPB	chr16:34730704-34731069	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr16:34486708-34487148	A549	lung:	n/a	chr16:34486713-34486730
27	CEBPB	chr16:34449685-34450030	K562	blood:	n/a	n/a
28	CEBPB	chr16:34486734-34487193	K562	blood:	n/a	n/a
29	CEBPB	chr16:34532934-34533739	IMR90	lung:	n/a	chr16:34533406-34533417
30	CEBPB	chr16:34643966-34644271	IMR90	lung:	n/a	n/a
31	CEBPB	chr16:34573739-34574089	IMR90	lung:	n/a	chr16:34573875-34573886
32	CEBPB	chr16:34531259-34531620	ECC-1	luminal epithelium:	n/a	n/a
33	CEBPB	chr16:34483631-34483649	K562	blood:	n/a	n/a
34	CEBPB	chr16:34603901-34604333	A549	lung:	n/a	n/a
35	CEBPB	chr16:34598584-34598949	HepG2	liver:	n/a	n/a
36	CEBPB	chr16:34532887-34533747	HepG2	liver:	n/a	chr16:34533406-34533417
37	CEBPB	chr16:34562362-34562531	A549	lung:	n/a	n/a
38	CEBPB	chr16:34573711-34574084	HepG2	liver:	n/a	chr16:34573875-34573886
39	CEBPB	chr16:34573755-34574035	K562	blood:	n/a	chr16:34573875-34573886
40	CEBPB	chr16:34536217-34536514	HepG2	liver:	n/a	n/a
41	CEBPB	chr16:34603883-34604326	HepG2	liver:	n/a	n/a
42	CEBPB	chr16:34729400-34729667	A549	lung:	n/a	n/a
43	CEBPB	chr16:34540417-34540828	HepG2	liver:	n/a	n/a
44	CEBPB	chr16:34600193-34600428	K562	blood:	n/a	chr16:34600335-34600346
45	CEBPB	chr16:34715391-34715623	K562	blood:	n/a	n/a
46	CEBPB	chr16:34637589-34637802	HepG2	liver:	n/a	chr16:34637709-34637720
47	CEBPB	chr16:34449647-34450070	IMR90	lung:	n/a	n/a
48	CEBPB	chr16:34730735-34731108	IMR90	lung:	n/a	n/a
49	CEBPB	chr16:34715416-34715653	IMR90	lung:	n/a	n/a
50	CEBPB	chr16:34486702-34487146	IMR90	lung:	n/a	chr16:34486713-34486730

(count:2136 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:34712713-34712763	SK-N-SH_RA	brain:	n/a
2	chr16:34712713-34712763	SK-N-SH_RA	brain:	n/a
3	chr16:34578819-34578869	HCF	heart:	n/a
4	chr16:34443612-34443662	HCPEpiC	choroid plexus:	n/a
5	chr16:34648842-34648892	PANC-1	pancreas:	n/a
6	chr16:34598029-34598079	K562	blood:	n/a
7	chr16:34586894-34586944	MCF10A-Er-Src	breast:	n/a
8	chr16:34726734-34726784	K562	blood:	n/a
9	chr16:34716002-34716052	NHDF-neo	bronchial:	n/a
10	chr16:34442373-34442423	HAEpiC	amniotic membrane:	n/a
11	chr16:34443120-34443170	Hela-S3	cervix:	n/a
12	chr16:34443612-34443662	PFSK-1	brain:	n/a
13	chr16:34441787-34441837	NB4	blood:	n/a
14	chr16:34456419-34456469	K562	blood:	n/a
15	chr16:34726856-34726906	HNPCEpiC	eye:	n/a
16	chr16:34587120-34587170	LNCaP	prostate:	n/a
17	chr16:34598029-34598079	HCF	heart:	n/a
18	chr16:34712713-34712763	Caco-2	colon:	n/a
19	chr16:34712713-34712763	NT2-D1	testis:	n/a
20	chr16:34587120-34587170	RPTEC	kidney:	n/a
21	chr16:34442602-34442652	CMK	blood:	n/a
22	chr16:34598029-34598079	HMEC	breast:	n/a
23	chr16:34648842-34648892	HNPCEpiC	eye:	n/a
24	chr16:34648842-34648892	RPTEC	kidney:	n/a
25	chr16:34489904-34489954	A549	lung:	n/a
26	chr16:34596941-34596991	HRCEpiC	kidney:	n/a
27	chr16:34625446-34625496	H1-hESC	embryonic stem cell:	embryo
28	chr16:34442602-34442652	AG09319	gingival:	n/a
29	chr16:34587120-34587170	AG09319	gingival:	n/a
30	chr16:34490033-34490083	RPTEC	kidney:	n/a
31	chr16:34456429-34456479	LNCaP	prostate:	n/a
32	chr16:34443612-34443662	NH-A	brain:	n/a
33	chr16:34583045-34583095	LNCaP	prostate:	n/a
34	chr16:34578819-34578869	AG04450	lung:	fetal
35	chr16:34648842-34648892	AG10803	skin:	n/a
36	chr16:34442602-34442652	GM12891	blood:	n/a
37	chr16:34625446-34625496	SK-N-MC	brain:	n/a
38	chr16:34583045-34583095	Caco-2	colon:	n/a
39	chr16:34583045-34583095	NB4	blood:	n/a
40	chr16:34583045-34583095	HNPCEpiC	eye:	n/a
41	chr16:34659771-34659821	NHDF-neo	bronchial:	n/a
42	chr16:34659771-34659821	SK-N-SH_RA	brain:	n/a
43	chr16:34583045-34583095	MCF-7	breast:	n/a
44	chr16:34456419-34456469	BJ	skin:	n/a
45	chr16:34712713-34712763	AG04450	lung:	fetal
46	chr16:34712713-34712763	HIPEpiC	eye:	n/a
47	chr16:34587120-34587170	HCF	heart:	n/a
48	chr16:34442373-34442423	K562	blood:	n/a
49	chr16:34726734-34726784	HEEpiC	esophagus:	n/a
50	chr16:34648842-34648892	HCPEpiC	choroid plexus:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:34422640..34423667-chr16:34625487..34626782,3	MCF-7	breast:
2	chr16:34429328..34431681-chr16:34466203..34469132,2	K562	blood:
3	chr16:34726782..34727382-chr16:34760283..34761051,3	MCF-7	breast:

(count:60 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2144E22.5.1-6	chr16:34614340-34614458	NONHSAT142183
2	lnc-LINC00273-25	chr16:34712988-34713065	NONHSAT142191
3	lnc-LINC00273-7	chr16:34729913-34729959	ENSG00000261445.1
4	lnc-LINC00273-25	chr16:34713636-34713810	NONHSAT142192
5	lnc-CTD-2144E22.5.1-6	chr16:34614340-34614458	ENSG00000259841.2
6	lnc-CTD-2144E22.5.1-4	chr16:34477761-34477848	XLOC_011699
7	lnc-LINC00273-25	chr16:34714529-34714852	NONHSAT142191
8	lnc-LINC00273-27	chr16:34739472-34739785	NONHSAT142200
9	lnc-LINC00273-25	chr16:34713636-34713735	NONHSAT142191
10	lnc-CTD-2144E22.5.1-6	chr16:34614340-34614458	ENSG00000259841.2
11	lnc-CTD-2144E22.5.1-5	chr16:34487609-34488020	ENSG00000260958.2
12	lnc-CTD-2144E22.5.1-6	chr16:34625678-34626084	NONHSAT142183
13	lnc-CTD-2144E22.5.1-6	chr16:34610877-34611020	ENSG00000259841.2
14	lnc-CTD-2144E22.5.1-6	chr16:34620250-34620420	NONHSAT142183
15	lnc-LINC00273-24	chr16:34641562-34641720	NONHSAT142186
16	lnc-CTD-2144E22.5.1-6	chr16:34624074-34624955	ENSG00000259841.2
17	lnc-CTD-2144E22.5.1-6	chr16:34612943-34613184	NONHSAT142183
18	lnc-CTD-2144E22.5.1-5	chr16:34442330-34442392	ENSG00000260958.2
19	lnc-CTD-2144E22.5.1-6	chr16:34597787-34597899	NONHSAT142183
20	lnc-LINC00273-22	chr16:34571082-34571260	NONHSAT142179
21	lnc-CTD-2144E22.5.1-5	chr16:34487252-34487506	ENSG00000260958.2
22	lnc-CTD-2144E22.5.1-6	chr16:34616795-34616969	NONHSAT142183
23	lnc-CTD-2144E22.5.1-6	chr16:34597902-34598201	ENSG00000259841.2
24	lnc-LINC00273-27	chr16:34739464-34739785	ENSG00000260857.2
25	lnc-LINC00273-18	chr16:34455954-34456419	NONHSAT142168
26	lnc-CTD-2144E22.5.1-5	chr16:34483054-34483172	ENSG00000260958.2
27	lnc-CTD-2144E22.5.1-5	chr16:34487252-34487411	NONHSAT142170
28	lnc-LINC00273-27	chr16:34739459-34739785	NONHSAT142198
29	lnc-LINC00273-25	chr16:34712988-34713065	NONHSAT142192
30	lnc-CTD-2144E22.5.1-6	chr16:34610877-34611020	NONHSAT142183
31	lnc-LINC00273-7	chr16:34728125-34728568	ENSG00000261445.1
32	lnc-LINC00273-23	chr16:34618515-34618930	NONHSAT142185
33	lnc-CTD-2144E22.5.1-5	chr16:34482858-34483251	NONHSAT142170
34	lnc-LINC00273-24	chr16:34641253-34641302	NONHSAT142186
35	lnc-CTD-2144E22.5.1-18	chr16:34493001-34494000	NONHSAT142176
36	lnc-LINC00273-25	chr16:34713293-34713362	NONHSAT142192
37	lnc-CTD-2144E22.5.1-4	chr16:34477709-34479085	NONHSAT142171
38	lnc-LINC00273-22	chr16:34569648-34570147	NONHSAT142179
39	lnc-CTD-2144E22.5.1-6	chr16:34612943-34613184	ENSG00000259841.2
40	lnc-LINC00273-7	chr16:34730748-34730828	ENSG00000261445.1
41	lnc-CTD-2144E22.5.1-5	chr16:34442308-34442392	ENSG00000260958.2
42	lnc-CTD-2144E22.5.1-6	chr16:34616795-34616837	ENSG00000259841.2
43	lnc-CTD-2144E22.5.1-24	chr16:34581756-34582668	NONHSAT142180
44	lnc-CTD-2144E22.5.1-29	chr16:34723608-34724583	NONHSAT142194
45	lnc-CTD-2144E22.5.1-6	chr16:34617082-34617226	ENSG00000259841.2
46	lnc-LINC00273-22	chr16:34570437-34570514	NONHSAT142179
47	lnc-CTD-2144E22.5.1-5	chr16:34518127-34518517	ENSG00000260958.2
48	lnc-CTD-2144E22.5.1-6	chr16:34610877-34611020	ENSG00000259841.2
49	lnc-LINC00273-24	chr16:34640118-34640617	NONHSAT142186
50	lnc-CTD-2144E22.5.1-6	chr16:34615965-34616632	ENSG00000259841.2

No data

Variant related genes	Relation type
RARRES2P9	TF binding region
ENSG00000259836	TF binding region
ENSG00000259897	TF binding region
ENSG00000221532	TF binding region
ENSG00000261752	TF binding region
ENSG00000264479	TF binding region
ENSG00000260427	TF binding region
ENSG00000260341	TF binding region
ENSG00000260291	TF binding region
ENSG00000261299	TF binding region
ENSG00000260598	TF binding region
ENSG00000261445	TF binding region
AGGF1P4	TF binding region
ENSG00000260958	TF binding region
ENSG00000261350	TF binding region
ENSG00000260153	TF binding region
ENSG00000214581	TF binding region
RARRES2P5	TF binding region
ENSG00000261274	TF binding region
ENSG00000259841	TF binding region
ENSG00000261711	TF binding region
RARRES2P7	TF binding region
RARRES2P6	TF binding region
ENSG00000260480	TF binding region
FGFR3P5	TF binding region
ENSG00000260680	TF binding region
ENSG00000260846	TF binding region
RARRES2P9	CpG island
ENSG00000259836	CpG island
ENSG00000259897	CpG island
ENSG00000221532	CpG island
ENSG00000261752	CpG island
ENSG00000264479	CpG island
ENSG00000260427	CpG island
ENSG00000260341	CpG island
ENSG00000260291	CpG island
ENSG00000261299	CpG island
ENSG00000260598	CpG island
ENSG00000261445	CpG island
AGGF1P4	CpG island
ENSG00000260958	CpG island
ENSG00000261350	CpG island
ENSG00000260153	CpG island
ENSG00000214581	CpG island
RARRES2P5	CpG island
ENSG00000261274	CpG island
ENSG00000259841	CpG island
ENSG00000261711	CpG island
RARRES2P7	CpG island
RARRES2P6	CpG island
ENSG00000260480	CpG island
FGFR3P5	CpG island
ENSG00000260680	CpG island
ENSG00000260846	CpG island
ENSG00000260073	chromatin interactions
ENSG00000261398	chromatin interactions

Extended variants
information (count: 5288 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:5288 , 50 per page) page: 1 2 3 4 5 6 7 ... 106

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12716730	chr16:34441795-34441796	Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188660410	chr16:34441833-34441834	Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
3	rs533622835	chr16:34441864-34441865	Bivalent/Poised TSS ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs558154626	chr16:34441871-34441872	Bivalent/Poised TSS ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs570082007	chr16:34441917-34441918	Bivalent/Poised TSS ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs34426078	chr16:34441949-34441950	Bivalent/Poised TSS ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs537759319	chr16:34441965-34441966	Bivalent/Poised TSS ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs192891928	chr16:34442005-34442006	Bivalent/Poised TSS ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs574674062	chr16:34442013-34442014	Bivalent/Poised TSS ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs143275408	chr16:34442061-34442062	Bivalent/Poised TSS ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs369803519	chr16:34442087-34442088	Bivalent/Poised TSS ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs546808229	chr16:34442115-34442116	Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
13	rs7404355	chr16:34442125-34442126	Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs535521782	chr16:34442133-34442134	Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
15	rs540696182	chr16:34442161-34442162	Bivalent/Poised TSS ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs185833886	chr16:34442162-34442163	Bivalent/Poised TSS ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs562915092	chr16:34442165-34442166	Bivalent/Poised TSS ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs375559381	chr16:34442240-34442241	Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs554864099	chr16:34442243-34442244	Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs530406721	chr16:34442255-34442256	Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs548529311	chr16:34442288-34442289	Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
22	rs566698913	chr16:34442305-34442306	Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
23	rs527403344	chr16:34442334-34442335	Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs79207436	chr16:34442374-34442375	Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs551815143	chr16:34442381-34442382	Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs570115757	chr16:34442386-34442387	Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs537496692	chr16:34442399-34442400	Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs531112874	chr16:34442411-34442412	Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs188699624	chr16:34442417-34442418	Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs568291648	chr16:34442420-34442421	Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs192390757	chr16:34442424-34442425	Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs142810513	chr16:34442429-34442430	Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs569972769	chr16:34442455-34442456	Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs535711467	chr16:34442480-34442481	Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs537217720	chr16:34442512-34442513	Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs553699778	chr16:34442540-34442541	Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs572230834	chr16:34442575-34442576	Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs534288009	chr16:34442580-34442581	Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs558802727	chr16:34442594-34442595	Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs559138483	chr16:34442618-34442619	Active TSS ZNF genes & repeats	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
41	rs577405457	chr16:34442626-34442627	Active TSS ZNF genes & repeats	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
42	rs183677904	chr16:34442665-34442666	Active TSS ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs6420379	chr16:34442677-34442678	Active TSS ZNF genes & repeats	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs187992523	chr16:34442686-34442687	Active TSS ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs112923463	chr16:34442731-34442732	Active TSS ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs575055151	chr16:34442768-34442769	Active TSS ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs181217073	chr16:34442855-34442856	Active TSS ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs560326203	chr16:34442879-34442880	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs577145305	chr16:34442910-34442911	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs368892477	chr16:34442918-34442919	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
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
Ductal carcinoma	22052326	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
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Disorders of sex development	21048976	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Neuroblastoma	20406844	CNVD
Autism	19050728	CNVD
Epilepsy	20923578	CNVD
Psychiatric disorder	19050728	CNVD
Schizophrenia	19348701	CNVD
Attention deficit hyperactivity disorder	19097825	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Breast cancer	20409316	CNVD
Severe combined immunodeficiency	19097825	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Autism	18522746	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	20967226	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19214233	CNVD
early-passage human iPS cells	21368824	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Rett syndrome	21593744	CNVD
Myelofibrosis	22110671	CNVD
Autism	19287141	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Autism	18414403	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:34441200-34442800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:34441400-34442600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr16:34442000-34443200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr16:34442200-34443000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr16:34442200-34443000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr16:34442600-34442800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr16:34456000-34456800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr16:34456200-34456400	ZNF genes & repeats	Gastric	stomach
9	chr16:34456200-34456600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr16:34465600-34466200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr16:34465600-34466200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr16:34466600-34472200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr16:34466800-34467000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:34466800-34469400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr16:34467000-34468200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chr16:34467000-34470200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr16:34468200-34469400	ZNF genes & repeats	Brain Germinal Matrix	brain
18	chr16:34474800-34476000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:34478600-34479000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr16:34480400-34481000	Enhancers	Adipose Nuclei	Adipose
21	chr16:34489600-34490400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
22	chr16:34489600-34490800	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr16:34489800-34490200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr16:34492800-34493400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
25	chr16:34505000-34507800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
26	chr16:34517800-34518400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr16:34531200-34534000	Enhancers	HMEC	breast
28	chr16:34531400-34534200	Enhancers	NHEK	skin
29	chr16:34531800-34532400	Active TSS	Fetal Heart	heart
30	chr16:34533800-34534000	Enhancers	Esophagus	oesophagus
31	chr16:34534200-34538800	Weak transcription	NHEK	skin
32	chr16:34535000-34537200	Weak transcription	Esophagus	oesophagus
33	chr16:34537000-34537400	ZNF genes & repeats	Fetal Heart	heart
34	chr16:34537200-34537400	Enhancers	Esophagus	oesophagus
35	chr16:34537400-34542200	Weak transcription	Esophagus	oesophagus
36	chr16:34538000-34538800	Active TSS	Fetal Heart	heart
37	chr16:34538600-34544000	Enhancers	HMEC	breast
38	chr16:34538800-34539600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
39	chr16:34538800-34543800	Enhancers	NHEK	skin
40	chr16:34539400-34539800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr16:34539800-34540200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr16:34540200-34540400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr16:34540400-34542800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr16:34542200-34543000	Enhancers	Esophagus	oesophagus
45	chr16:34542200-34546800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
46	chr16:34542800-34543000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr16:34542800-34543600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr16:34543000-34543400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr16:34543200-34544000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr16:34543400-34543800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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