Variant report

Variant	nsv1056658
Chromosome Location	chr16:34197339-34682514
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1743)
CpG islands
(count:5801)
Chromatin interactive
region (count:4)
LncRNA
region (count:58)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1743 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr16:34643912-34644196	K562	blood:	n/a	n/a
2	ATF1	chr16:34589373-34589390	K562	blood:	n/a	n/a
3	ATF1	chr16:34486728-34487212	K562	blood:	n/a	n/a
4	ATF1	chr16:34573796-34574082	K562	blood:	n/a	n/a
5	ATF1	chr16:34625774-34626005	K562	blood:	n/a	n/a
6	ATF1	chr16:34574452-34574460	K562	blood:	n/a	n/a
7	BATF	chr16:34536693-34536965	GM12878	blood:	n/a	chr16:34536834-34536845
8	BATF	chr16:34539865-34540180	GM12878	blood:	n/a	chr16:34540044-34540055
9	BATF	chr16:34539887-34540221	GM12878	blood:	n/a	chr16:34540044-34540055
10	BHLHE40	chr16:34234710-34234716	K562	blood:	n/a	n/a
11	BHLHE40	chr16:34429795-34429892	K562	blood:	n/a	chr16:34429875-34429891
12	BHLHE40	chr16:34647001-34647022	GM12878	blood:	n/a	n/a
13	BHLHE40	chr16:34598011-34598017	K562	blood:	n/a	n/a
14	BHLHE40	chr16:34625401-34626021	K562	blood:	n/a	n/a
15	BHLHE40	chr16:34625806-34626006	GM12878	blood:	n/a	n/a
16	BRCA1	chr16:34666658-34666728	GM12878	blood:	n/a	n/a
17	BRCA1	chr16:34666402-34666616	H1-hESC	embryonic stem cell:	n/a	n/a
18	CBX3	chr16:34625799-34625988	K562	blood:	n/a	n/a
19	CEBPB	chr16:34369435-34369709	HepG2	liver:	n/a	chr16:34369584-34369595
20	CEBPB	chr16:34600051-34600514	ECC-1	luminal epithelium:	n/a	chr16:34600335-34600346
21	CEBPB	chr16:34411851-34412016	HepG2	liver:	n/a	n/a
22	CEBPB	chr16:34201201-34201297	A549	lung:	n/a	n/a
23	CEBPB	chr16:34597882-34598141	IMR90	lung:	n/a	n/a
24	CEBPB	chr16:34449667-34450116	A549	lung:	n/a	n/a
25	CEBPB	chr16:34247011-34247304	IMR90	lung:	n/a	chr16:34247209-34247220 chr16:34247169-34247180
26	CEBPB	chr16:34425315-34425607	IMR90	lung:	n/a	chr16:34425466-34425477 chr16:34425464-34425477 chr16:34425464-34425477 chr16:34425464-34425475
27	CEBPB	chr16:34573756-34574077	A549	lung:	n/a	chr16:34573875-34573886
28	CEBPB	chr16:34536217-34536514	HepG2	liver:	n/a	n/a
29	CEBPB	chr16:34598584-34598949	HepG2	liver:	n/a	n/a
30	CEBPB	chr16:34449647-34450070	IMR90	lung:	n/a	n/a
31	CEBPB	chr16:34536231-34536434	A549	lung:	n/a	n/a
32	CEBPB	chr16:34539206-34539440	A549	lung:	n/a	n/a
33	CEBPB	chr16:34456087-34456203	HepG2	liver:	n/a	n/a
34	CEBPB	chr16:34238371-34238530	K562	blood:	n/a	chr16:34238476-34238487
35	CEBPB	chr16:34637589-34637802	HepG2	liver:	n/a	chr16:34637709-34637720
36	CEBPB	chr16:34637648-34637812	K562	blood:	n/a	chr16:34637709-34637720
37	CEBPB	chr16:34486670-34487169	HepG2	liver:	n/a	chr16:34486713-34486730
38	CEBPB	chr16:34600114-34600449	MCF-7	breast:	n/a	chr16:34600335-34600346
39	CEBPB	chr16:34369427-34369724	ECC-1	luminal epithelium:	n/a	chr16:34369584-34369595
40	CEBPB	chr16:34539085-34539474	HepG2	liver:	n/a	n/a
41	CEBPB	chr16:34621172-34621181	HepG2	liver:	n/a	n/a
42	CEBPB	chr16:34600160-34600470	ECC-1	luminal epithelium:	n/a	chr16:34600335-34600346
43	CEBPB	chr16:34532934-34533739	IMR90	lung:	n/a	chr16:34533406-34533417
44	CEBPB	chr16:34600044-34600501	Hela-S3	cervix:	n/a	chr16:34600335-34600346
45	CEBPB	chr16:34600193-34600428	K562	blood:	n/a	chr16:34600335-34600346
46	CEBPB	chr16:34599864-34600530	HepG2	liver:	n/a	chr16:34600335-34600346
47	CEBPB	chr16:34532878-34533767	A549	lung:	n/a	chr16:34533406-34533417
48	CEBPB	chr16:34537182-34537560	K562	blood:	n/a	n/a
49	CEBPB	chr16:34573711-34574084	HepG2	liver:	n/a	chr16:34573875-34573886
50	CEBPB	chr16:34486734-34487193	K562	blood:	n/a	n/a

(count:5801 , 50 per page) page: 1 2 3 4 5 6 7 ... 117

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:34579002-34579052	GM06990	blood:	n/a
2	chr16:34210082-34210132	NHDF-neo	bronchial:	n/a
3	chr16:34403971-34404021	AG04450	lung:	fetal
4	chr16:34209247-34209297	BJ	skin:	n/a
5	chr16:34598029-34598079	NHDF-neo	bronchial:	n/a
6	chr16:34404774-34404824	HRE	kidney:	n/a
7	chr16:34579002-34579052	GM06990	blood:	n/a
8	chr16:34210082-34210132	NHDF-neo	bronchial:	n/a
9	chr16:34403971-34404021	AG04450	lung:	fetal
10	chr16:34209247-34209297	BJ	skin:	n/a
11	chr16:34598029-34598079	NHDF-neo	bronchial:	n/a
12	chr16:34404774-34404824	HRE	kidney:	n/a
13	chr16:34208209-34208259	AG10803	skin:	n/a
14	chr16:34579002-34579052	BE2_C	brain:	n/a
15	chr16:34404772-34404822	K562	blood:	n/a
16	chr16:34586894-34586944	HCF	heart:	n/a
17	chr16:34649152-34649202	Hepatocyte	liver:	n/a
18	chr16:34586894-34586944	AG04449	skin:	fetal
19	chr16:34378069-34378119	Jurkat	blood:	n/a
20	chr16:34649152-34649202	SK-N-SH_RA	brain:	n/a
21	chr16:34596583-34596633	GM12892	blood:	n/a
22	chr16:34659664-34659714	NB4	blood:	n/a
23	chr16:34403971-34404021	GM12891	blood:	n/a
24	chr16:34587307-34587357	NHDF-neo	bronchial:	n/a
25	chr16:34431003-34431053	PANC-1	pancreas:	n/a
26	chr16:34261438-34261488	GM12878	blood:	n/a
27	chr16:34596941-34596991	HCM	heart:	n/a
28	chr16:34442373-34442423	RPTEC	kidney:	n/a
29	chr16:34255535-34255585	ovcar-3	ovarian:	n/a
30	chr16:34265361-34265411	Caco-2	colon:	n/a
31	chr16:34578819-34578869	U87	brain:	n/a
32	chr16:34404524-34404574	NB4	blood:	n/a
33	chr16:34209017-34209067	HCM	heart:	n/a
34	chr16:34293670-34293720	MCF-7	breast:	n/a
35	chr16:34256290-34256340	Hela-S3	cervix:	n/a
36	chr16:34659771-34659821	PFSK-1	brain:	n/a
37	chr16:34404524-34404574	Hepatocyte	liver:	n/a
38	chr16:34596583-34596633	SK-N-SH	brain:	n/a
39	chr16:34208792-34208842	K562	blood:	n/a
40	chr16:34598029-34598079	H1-hESC	embryonic stem cell:	embryo
41	chr16:34375288-34375338	Hela-S3	cervix:	n/a
42	chr16:34578819-34578869	Caco-2	colon:	n/a
43	chr16:34430382-34430432	AG09309	skin:	n/a
44	chr16:34586837-34586887	HL-60	blood:	n/a
45	chr16:34442090-34442140	NH-A	brain:	n/a
46	chr16:34443120-34443170	AG09309	skin:	n/a
47	chr16:34648955-34649005	HUVEC	blood vessel:	n/a
48	chr16:34430837-34430887	HCPEpiC	choroid plexus:	n/a
49	chr16:34296108-34296158	SKMC	muscle:	n/a
50	chr16:34257432-34257482	AG04450	lung:	fetal

(count:4 , 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	chr16:34422640..34423667-chr16:34625487..34626782,3	MCF-7	breast:
4	chr16:34256831..34259830-chr17:41380416..41383304,2	K562	blood:

(count:58 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LINC00273-18	chr16:34455954-34456419	NONHSAT142168
2	lnc-CTD-2144E22.5.1-5	chr16:34442330-34442392	ENSG00000260958.2
3	lnc-LINC00273-23	chr16:34618515-34618930	NONHSAT142185
4	lnc-LINC00273-15	chr16:34383828-34384161	NONHSAT142158
5	lnc-LINC00273-24	chr16:34641253-34641302	NONHSAT142186
6	lnc-LINC00273-4	chr16:34261392-34261835	NONHSAT142147
7	lnc-CTD-2144E22.5.1-4	chr16:34477709-34479085	NONHSAT142171
8	lnc-CTD-2144E22.5.1-17	chr16:34427706-34428105	NONHSAT142163
9	lnc-CTD-2144E22.5.1-6	chr16:34616795-34616837	ENSG00000259841.2
10	lnc-CTD-2144E22.5.1-6	chr16:34614340-34614458	ENSG00000259841.2
11	lnc-CTD-2144E22.5.1-5	chr16:34487252-34487411	NONHSAT142170
12	lnc-CTD-2144E22.5.1-6	chr16:34597783-34597899	ENSG00000259841.2
13	lnc-CTD-2144E22.5.1-6	chr16:34625678-34626084	NONHSAT142183
14	lnc-LINC00273-4	chr16:34259780-34260039	XLOC_011926
15	lnc-LINC00273-23	chr16:34619259-34619457	NONHSAT142185
16	lnc-CTD-2144E22.5.1-6	chr16:34612943-34613184	ENSG00000259841.2
17	lnc-CTD-2144E22.5.1-6	chr16:34614340-34614458	NONHSAT142183
18	lnc-LINC00273-2	chr16:34214112-34214215	ENSG00000260854.1
19	lnc-CTD-2144E22.5.1-6	chr16:34597902-34598201	ENSG00000259841.2
20	lnc-CTD-2144E22.5.1-6	chr16:34615965-34616632	ENSG00000259841.2
21	lnc-CTD-2144E22.5.1-5	chr16:34442308-34442392	ENSG00000260958.2
22	lnc-CTD-2144E22.5.1-6	chr16:34620250-34620420	ENSG00000259841.2
23	lnc-CTD-2144E22.5.1-5	chr16:34518127-34518517	ENSG00000260958.2
24	lnc-LINC00273-4	chr16:34263773-34263920	XLOC_011926
25	lnc-CTD-2144E22.5.1-6	chr16:34620250-34620420	NONHSAT142183
26	lnc-CTD-2144E22.5.1-6	chr16:34616795-34616969	NONHSAT142183
27	lnc-CTD-2144E22.5.1-6	chr16:34612943-34613184	ENSG00000259841.2
28	lnc-CTD-2144E22.5.1-6	chr16:34597787-34597899	NONHSAT142183
29	lnc-LINC00273-2	chr16:34213115-34213562	ENSG00000260854.1
30	lnc-CTD-2144E22.5.1-5	chr16:34482858-34483251	NONHSAT142170
31	lnc-CTD-2144E22.5.1-6	chr16:34616840-34616969	ENSG00000259841.2
32	lnc-LINC00273-24	chr16:34640930-34641001	NONHSAT142186
33	lnc-CTD-2144E22.5.1-6	chr16:34612943-34613184	NONHSAT142183
34	lnc-CTD-2144E22.5.1-18	chr16:34493001-34494000	NONHSAT142176
35	lnc-CTD-2144E22.5.1-11	chr16:34213746-34213986	NONHSAT142141
36	lnc-CTD-2144E22.5.1-5	chr16:34471671-34474425	NONHSAT142170
37	lnc-CTD-2144E22.5.1-12	chr16:34320267-34320490	NONHSAT142151
38	lnc-CTD-2144E22.5.1-14	chr16:34368885-34369446	NONHSAT142152
39	lnc-CTD-2144E22.5.1-5	chr16:34483054-34483172	ENSG00000260958.2
40	lnc-CTD-2144E22.5.1-6	chr16:34610877-34611020	ENSG00000259841.2
41	lnc-CTD-2144E22.5.1-4	chr16:34477761-34477848	XLOC_011699
42	lnc-LINC00273-22	chr16:34570437-34570514	NONHSAT142179
43	lnc-CTD-2144E22.5.1-6	chr16:34624074-34624955	ENSG00000259841.2
44	lnc-CTD-2144E22.5.1-6	chr16:34610877-34611020	ENSG00000259841.2
45	lnc-LINC00273-24	chr16:34641562-34641720	NONHSAT142186
46	lnc-CTD-2144E22.5.1-24	chr16:34581756-34582668	NONHSAT142180
47	lnc-CTD-2144E22.5.1-6	chr16:34610877-34611020	NONHSAT142183
48	lnc-CTD-2144E22.5.1-6	chr16:34617082-34617226	ENSG00000259841.2
49	lnc-CTD-2144E22.5.1-10	chr16:34232106-34232469	NONHSAT142142
50	lnc-LINC00273-22	chr16:34569648-34570147	NONHSAT142179

No data

Variant related genes	Relation type
ENSG00000261510	TF binding region
UBE2MP1	TF binding region
ENSG00000260073	TF binding region
ENSG00000259897	TF binding region
ENSG00000221532	TF binding region
ENSG00000260449	TF binding region
ENSG00000261752	TF binding region
ENSG00000261331	TF binding region
ENSG00000260854	TF binding region
ENSG00000261398	TF binding region
ENSG00000260291	TF binding region
ENSG00000261299	TF binding region
AGGF1P4	TF binding region
ENSG00000261053	TF binding region
RARRES2P5	TF binding region
ENSG00000260590	TF binding region
ENSG00000261274	TF binding region
ENSG00000179755	TF binding region
RARRES2P7	TF binding region
RARRES2P6	TF binding region
ENSG00000260480	TF binding region
ENSG00000262885	TF binding region
FGFR3P5	TF binding region
ENSG00000261836	TF binding region
SLC25A1P4	TF binding region
RARRES2P9	TF binding region
ENSG00000264479	TF binding region
ENSG00000260427	TF binding region
CCNYL3	TF binding region
ENSG00000260598	TF binding region
ENSG00000260809	TF binding region
ENSG00000260958	TF binding region
ENSG00000256579	TF binding region
VN1R69P	TF binding region
VN1R68P	TF binding region
ENSG00000259841	TF binding region
ENSG00000261566	TF binding region
ENSG00000261800	TF binding region
ENSG00000260680	TF binding region
ENSG00000260846	TF binding region
ENSG00000261510	CpG island
UBE2MP1	CpG island
ENSG00000260073	CpG island
ENSG00000259897	CpG island
ENSG00000221532	CpG island
ENSG00000260449	CpG island
ENSG00000261752	CpG island
ENSG00000261331	CpG island
ENSG00000260854	CpG island
ENSG00000261398	CpG island
ENSG00000260291	CpG island
ENSG00000261299	CpG island
AGGF1P4	CpG island
ENSG00000261053	CpG island
RARRES2P5	CpG island
ENSG00000260590	CpG island
ENSG00000261274	CpG island
ENSG00000179755	CpG island
RARRES2P7	CpG island
RARRES2P6	CpG island
ENSG00000260480	CpG island
ENSG00000262885	CpG island
FGFR3P5	CpG island
ENSG00000261836	CpG island
SLC25A1P4	CpG island
RARRES2P9	CpG island
ENSG00000264479	CpG island
ENSG00000260427	CpG island
CCNYL3	CpG island
ENSG00000260598	CpG island
ENSG00000260809	CpG island
ENSG00000260958	CpG island
ENSG00000256579	CpG island
VN1R69P	CpG island
VN1R68P	CpG island
ENSG00000259841	CpG island
ENSG00000261566	CpG island
ENSG00000261800	CpG island
ENSG00000260680	CpG island
ENSG00000260846	CpG island
ENSG00000261398	chromatin interactions
ENSG00000260073	chromatin interactions
ENSG00000236383	chromatin interactions

Extended variants
information (count: 7279 )
Associated
traits (count: 133 )

Variant overlapped rSNPs/rCNVs (count:7279 , 50 per page) page: 1 2 3 4 5 6 7 ... 146

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569201293	chr16:34197341-34197342	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547782276	chr16:34197344-34197345	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78158582	chr16:34197345-34197346	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536419936	chr16:34197353-34197354	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555125912	chr16:34197364-34197365	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566989913	chr16:34197366-34197367	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569663628	chr16:34197395-34197396	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558730262	chr16:34197414-34197415	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149388151	chr16:34197453-34197454	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537331263	chr16:34197471-34197472	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544234275	chr16:34197482-34197483	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9936279	chr16:34197492-34197493	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs574696629	chr16:34197528-34197529	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117270001	chr16:34197534-34197535	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560277915	chr16:34197551-34197552	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527540481	chr16:34197554-34197555	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201831034	chr16:34197555-34197556	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs57418863	chr16:34197557-34197558	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565049005	chr16:34197598-34197599	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192265256	chr16:34197600-34197601	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199981061	chr16:34197610-34197611	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535234306	chr16:34197652-34197653	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372933198	chr16:34197653-34197654	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550585592	chr16:34197665-34197666	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184327495	chr16:34197667-34197668	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530408527	chr16:34197712-34197713	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148515700	chr16:34197717-34197718	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375493742	chr16:34197728-34197729	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548645178	chr16:34197760-34197761	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369889070	chr16:34197767-34197768	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567049774	chr16:34197771-34197772	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112714336	chr16:34197791-34197792	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs8048213	chr16:34197818-34197819	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs570575394	chr16:34197824-34197825	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537811777	chr16:34197833-34197834	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556102006	chr16:34197857-34197858	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538407017	chr16:34197887-34197888	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535737074	chr16:34197894-34197895	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539797971	chr16:34197926-34197927	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572166219	chr16:34197939-34197940	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190391146	chr16:34197955-34197956	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565012285	chr16:34197972-34197973	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12921999	chr16:34197985-34197986	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs544336273	chr16:34198058-34198059	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562893683	chr16:34198068-34198069	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530083755	chr16:34198083-34198084	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548813942	chr16:34198090-34198091	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560629390	chr16:34198111-34198112	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527850808	chr16:34198130-34198131	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182224691	chr16:34198137-34198138	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:133)

Disease	PMID	Source
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
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
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Mental retardation	19951919	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	22499536	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22513405	CNVD
Autism	22958593	CNVD
Autism	18184952	CNVD
Autism	19966786	CNVD
Autism	21394203	CNVD
Autism	21969575	CNVD
Autism	22241247	CNVD
Autism	20970697	CNVD
Autism	20942916	CNVD
Epilepsy	20970697	CNVD
Intellectual disability	22045946	CNVD
Mental retardation	19966786	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Autism	18923514	CNVD
Obesity	21881559	CNVD
Obesity	21956041	CNVD
Autism	20659124	CNVD
Mental retardation	21062444	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	22885689	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	20970697	CNVD
Schizophrenia	20433910	CNVD
Schizophrenia	22241247	CNVD
Autism	19242545	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Intracranial ependymoma	16609018	CNVD
Schizophrenia	21399695	CNVD
Autism	21956041	CNVD
Disorders of sex development	21048976	CNVD
Autism	22067053	CNVD
Autism	18156158	CNVD
Mental retardation	20152051	CNVD
Autism	19218893	CNVD
Autism	21289514	CNVD
Schizophrenia	19855392	CNVD
neurodevelopmental Syndrome	20503337	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	20967226	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19214233	CNVD
early-passage human iPS cells	21368824	CNVD
Rett syndrome	21593744	CNVD
Autism	19287141	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Autism	18414403	CNVD

Chromatin state (count:211 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:34180400-34198000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr16:34180400-34199800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr16:34197000-34198200	Weak transcription	Fetal Heart	heart
4	chr16:34208200-34211000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr16:34208600-34209600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:34208600-34210000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr16:34209400-34209600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr16:34212800-34214400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr16:34219400-34219800	Active TSS	Fetal Heart	heart
10	chr16:34219800-34220000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr16:34219800-34220000	ZNF genes & repeats	Pancreas	Pancrea
12	chr16:34225200-34225600	Active TSS	Fetal Heart	heart
13	chr16:34234400-34237600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr16:34240600-34241000	Active TSS	Fetal Heart	heart
15	chr16:34248600-34251400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr16:34257000-34257600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr16:34257400-34258200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr16:34261800-34262200	Active TSS	Fetal Heart	heart
19	chr16:34264400-34265200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr16:34267400-34267600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr16:34268200-34268400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr16:34268600-34268800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr16:34285000-34285600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr16:34285600-34286400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr16:34286200-34287200	Enhancers	Colon Smooth Muscle	Colon
26	chr16:34286400-34286800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr16:34287200-34288000	Weak transcription	Colon Smooth Muscle	Colon
28	chr16:34288200-34288400	Enhancers	Colon Smooth Muscle	Colon
29	chr16:34299000-34299600	ZNF genes & repeats	Spleen	Spleen
30	chr16:34299000-34303000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
31	chr16:34299000-34303200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr16:34300000-34304400	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr16:34301000-34301200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr16:34301200-34301600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
35	chr16:34301800-34302800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr16:34302000-34305400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
37	chr16:34302200-34302800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
38	chr16:34309600-34310000	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr16:34315800-34316000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr16:34315800-34316600	ZNF genes & repeats	Adipose Nuclei	Adipose
41	chr16:34315800-34320600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
42	chr16:34353000-34353200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr16:34368800-34369200	Enhancers	NHEK	skin
44	chr16:34369200-34369400	Enhancers	HMEC	breast
45	chr16:34369200-34369400	Flanking Active TSS	NHEK	skin
46	chr16:34369200-34370600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr16:34369400-34369600	Enhancers	NHEK	skin
48	chr16:34369400-34369800	Flanking Active TSS	HMEC	breast
49	chr16:34369600-34369800	Flanking Active TSS	NHEK	skin
50	chr16:34369800-34370600	Enhancers	HMEC	breast

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