Variant report

Variant	nsv572210
Chromosome Location	chr16:33282527-33786141
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4061)
CpG islands
(count:2750)
Chromatin interactive
region (count:25)
LncRNA
region (count:21)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4061 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:33577202-33577382	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:33293788-33294209	HepG2	liver:	n/a	n/a
3	ARID3A	chr16:33502987-33503033	HepG2	liver:	n/a	n/a
4	ATF1	chr16:33535249-33535260	K562	blood:	n/a	n/a
5	ATF1	chr16:33544959-33544976	K562	blood:	n/a	n/a
6	ATF1	chr16:33446622-33446661	K562	blood:	n/a	n/a
7	ATF3	chr16:33619018-33619453	K562	blood:	n/a	n/a
8	ATF3	chr16:33569376-33569681	K562	blood:	n/a	n/a
9	ATF3	chr16:33569464-33569595	GM12878	blood:	n/a	n/a
10	ATF3	chr16:33293710-33294426	HepG2	liver:	n/a	n/a
11	ATF3	chr16:33764110-33764276	K562	blood:	n/a	n/a
12	BACH1	chr16:33293845-33294023	K562	blood:	n/a	n/a
13	BATF	chr16:33364185-33364651	GM12878	blood:	n/a	chr16:33364440-33364451
14	BATF	chr16:33448828-33449178	GM12878	blood:	n/a	chr16:33449053-33449063
15	BATF	chr16:33446462-33446750	GM12878	blood:	n/a	n/a
16	BATF	chr16:33365688-33366003	GM12878	blood:	n/a	n/a
17	BATF	chr16:33524710-33524926	GM12878	blood:	n/a	chr16:33524743-33524752
18	BATF	chr16:33563865-33564062	GM12878	blood:	n/a	n/a
19	BATF	chr16:33458798-33459290	GM12878	blood:	n/a	n/a
20	BATF	chr16:33647061-33647311	GM12878	blood:	n/a	n/a
21	BATF	chr16:33524553-33524907	GM12878	blood:	n/a	chr16:33524743-33524752
22	BATF	chr16:33369625-33369914	GM12878	blood:	n/a	n/a
23	BATF	chr16:33445748-33446186	GM12878	blood:	n/a	chr16:33445964-33445975 chr16:33445982-33445990
24	BATF	chr16:33448799-33449188	GM12878	blood:	n/a	chr16:33449053-33449063
25	BATF	chr16:33521180-33521433	GM12878	blood:	n/a	n/a
26	BATF	chr16:33564248-33564454	GM12878	blood:	n/a	n/a
27	BATF	chr16:33589201-33589438	GM12878	blood:	n/a	n/a
28	BATF	chr16:33331077-33331251	GM12878	blood:	n/a	n/a
29	BATF	chr16:33716043-33716353	GM12878	blood:	n/a	n/a
30	BATF	chr16:33517619-33517865	GM12878	blood:	n/a	n/a
31	BATF	chr16:33328184-33328483	GM12878	blood:	n/a	chr16:33328300-33328311
32	BATF	chr16:33517629-33517889	GM12878	blood:	n/a	n/a
33	BATF	chr16:33585762-33586003	GM12878	blood:	n/a	n/a
34	BATF	chr16:33763898-33764246	GM12878	blood:	n/a	n/a
35	BATF	chr16:33722423-33722618	GM12878	blood:	n/a	n/a
36	BATF	chr16:33431441-33431744	GM12878	blood:	n/a	chr16:33431606-33431617
37	BATF	chr16:33358267-33358522	GM12878	blood:	n/a	n/a
38	BATF	chr16:33445892-33446115	GM12878	blood:	n/a	chr16:33445964-33445975 chr16:33445982-33445990
39	BATF	chr16:33673521-33673717	GM12878	blood:	n/a	n/a
40	BATF	chr16:33365611-33366045	GM12878	blood:	n/a	n/a
41	BATF	chr16:33370078-33370545	GM12878	blood:	n/a	n/a
42	BATF	chr16:33521242-33521484	GM12878	blood:	n/a	n/a
43	BATF	chr16:33431461-33431755	GM12878	blood:	n/a	chr16:33431606-33431617
44	BCL11A	chr16:33585333-33585647	GM12878	blood:	n/a	n/a
45	BCL11A	chr16:33329783-33329955	GM12878	blood:	n/a	n/a
46	BCL11A	chr16:33493442-33493790	GM12878	blood:	n/a	n/a
47	BCL11A	chr16:33563810-33564006	GM12878	blood:	n/a	n/a
48	BCL11A	chr16:33293959-33294426	GM12878	blood:	n/a	n/a
49	BCL11A	chr16:33329020-33329200	GM12878	blood:	n/a	n/a
50	BCL11A	chr16:33446218-33446393	GM12878	blood:	n/a	n/a

(count:2750 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:33319362-33319412	GM12891	blood:	n/a
2	chr16:33781365-33781415	GM06990	blood:	n/a
3	chr16:33781365-33781415	SK-N-SH	brain:	n/a
4	chr16:33298952-33299002	NT2-D1	testis:	n/a
5	chr16:33483299-33483349	AG09319	gingival:	n/a
6	chr16:33319362-33319412	GM12891	blood:	n/a
7	chr16:33781365-33781415	GM06990	blood:	n/a
8	chr16:33781365-33781415	SK-N-SH	brain:	n/a
9	chr16:33298952-33299002	NT2-D1	testis:	n/a
10	chr16:33483299-33483349	AG09319	gingival:	n/a
11	chr16:33573272-33573322	PrEC	prostate:	n/a
12	chr16:33730558-33730608	RPTEC	kidney:	n/a
13	chr16:33604228-33604278	PANC-1	pancreas:	n/a
14	chr16:33483591-33483641	ECC-1	luminal epithelium:	n/a
15	chr16:33483591-33483641	NB4	blood:	n/a
16	chr16:33355024-33355074	NHDF-neo	bronchial:	n/a
17	chr16:33604228-33604278	PFSK-1	brain:	n/a
18	chr16:33357426-33357476	HCM	heart:	n/a
19	chr16:33573272-33573322	SK-N-MC	brain:	n/a
20	chr16:33783802-33783852	HRPEpiC	eye:	n/a
21	chr16:33730720-33730770	HCT-116	colon:	n/a
22	chr16:33357426-33357476	HEK293	kidney:	embryo
23	chr16:33483297-33483347	K562	blood:	n/a
24	chr16:33627215-33627265	Jurkat	blood:	n/a
25	chr16:33730558-33730608	SKMC	muscle:	n/a
26	chr16:33483299-33483349	HCPEpiC	choroid plexus:	n/a
27	chr16:33355024-33355074	RPTEC	kidney:	n/a
28	chr16:33319362-33319412	Hela-S3	cervix:	n/a
29	chr16:33319610-33319660	AoSMC	blood vessel:	n/a
30	chr16:33483244-33483294	SK-N-MC	brain:	n/a
31	chr16:33781365-33781415	NHDF-neo	bronchial:	n/a
32	chr16:33357151-33357201	ProgFib	skin:	n/a
33	chr16:33355024-33355074	Caco-2	colon:	n/a
34	chr16:33355024-33355074	HUVEC	blood vessel:	n/a
35	chr16:33319353-33319403	HEK293	kidney:	embryo
36	chr16:33570115-33570165	A549	lung:	n/a
37	chr16:33604228-33604278	HEEpiC	esophagus:	n/a
38	chr16:33374028-33374078	GM06990	blood:	n/a
39	chr16:33573272-33573322	MCF10A-Er-Src	breast:	n/a
40	chr16:33570115-33570165	GM12892	blood:	n/a
41	chr16:33570115-33570165	K562	blood:	n/a
42	chr16:33605185-33605235	SK-N-SH	brain:	n/a
43	chr16:33298952-33299002	HRE	kidney:	n/a
44	chr16:33570115-33570165	Hela-S3	cervix:	n/a
45	chr16:33483299-33483349	NB4	blood:	n/a
46	chr16:33374161-33374211	Jurkat	blood:	n/a
47	chr16:33730558-33730608	HMEC	breast:	n/a
48	chr16:33357426-33357476	LNCaP	prostate:	n/a
49	chr16:33730720-33730770	HL-60	blood:	n/a
50	chr16:33730539-33730589	NH-A	brain:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:32876653..32877208-chr16:33618895..33619446,2	MCF-7	breast:
2	chr16:33599590..33601128-chr16:33607194..33610110,2	K562	blood:
3	chr16:33362493..33363428-chr3:73095698..73096500,2	MCF-7	breast:
4	chr16:33618632..33619607-chr16:33646788..33647301,2	MCF-7	breast:
5	chr16:33501621..33504383-chr16:33506713..33508666,2	K562	blood:
6	chr16:32951293..32951850-chr16:33618657..33619267,2	MCF-7	breast:
7	chr16:33618975..33619481-chr6:120699536..120700074,2	MCF-7	breast:
8	chr16:33618869..33619686-chr16:33955996..33956882,3	MCF-7	breast:
9	chr16:33618887..33619679-chr16:33739842..33740784,2	MCF-7	breast:
10	chr16:33535568..33538409-chr16:33539107..33541473,2	K562	blood:
11	chr16:33501621..33504383-chr16:33506713..33508666,2	K562	blood:
12	chr16:33618887..33619679-chr16:33739842..33740784,2	MCF-7	breast:
13	chr16:33599590..33601128-chr16:33607194..33610110,2	K562	blood:
14	chr16:33535568..33538409-chr16:33539107..33541473,2	K562	blood:
15	chr16:33618687..33619546-chr21:22589708..22590404,2	MCF-7	breast:
16	chr16:33374454..33377112-chr16:33390580..33392185,2	MCF-7	breast:
17	chr16:33618559..33619759-chr16:33646461..33647717,8	MCF-7	breast:
18	chr16:32993835..32994354-chr16:33619041..33619624,2	MCF-7	breast:
19	chr16:33618632..33619607-chr16:33646788..33647301,2	MCF-7	breast:
20	chr16:33374454..33377112-chr16:33390580..33392185,2	MCF-7	breast:
21	chr1:121484857..121485377-chr16:33618718..33619247,2	MCF-7	breast:
22	chr14:107287133..107287781-chr16:33618600..33619120,3	MCF-7	breast:
23	chr16:33357445..33357965-chrX:123093937..123094556,2	MCF-7	breast:
24	chr12:123886567..123888097-chr16:33420189..33423186,2	K562	blood:
25	chr13:30046484..30047067-chr16:33618956..33619795,2	MCF-7	breast:

(count:21 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-1277H1.1.1-2	chr16:33342943-33343609	XLOC_011696
2	lnc-AC140658.1-6	chr16:33777235-33777744	ENSG00000205452.4
3	lnc-AC140658.1-3	chr16:33750745-33751015	NONHSAT142117
4	lnc-AC140658.1-6	chr16:33775514-33776189	ENSG00000205452.4
5	lnc-AC140658.1-6	chr16:33777320-33777532	ENSG00000205452.4
6	lnc-AC140658.1-6	chr16:33776833-33776957	ENSG00000205452.4
7	lnc-AC136428.1.1-1	chr16:33661001-33661077	ENSG00000260312.1
8	lnc-AC140658.1-6	chr16:33776476-33776670	ENSG00000205452.4
9	lnc-AC136428.1.1-4	chr16:33336283-33336630	ENSG00000260626.1
10	lnc-AC140658.1-5	chr16:33768513-33768558	NONHSAT142119
11	lnc-AC136428.1.1-1	chr16:33661251-33661331	ENSG00000260312.1
12	lnc-AC140658.1-6	chr16:33777416-33777550	ENSG00000205452.4
13	lnc-AC136428.1.1-10	chr16:33677891-33677935	NONHSAT142113
14	lnc-AC140658.1-6	chr16:33778750-33778813	ENSG00000205452.4
15	lnc-AC136428.1.1-4	chr16:33337232-33337443	ENSG00000260626.1
16	lnc-AC140658.1-6	chr16:33775379-33776670	ENSG00000205452.4
17	lnc-AC136428.1.1-1	chr16:33660402-33660589	ENSG00000260312.1
18	lnc-AC136428.1.1-10	chr16:33677506-33677808	NONHSAT142113
19	lnc-AC140658.1-5	chr16:33768122-33768427	NONHSAT142119
20	lnc-AC140658.1-6	chr16:33776448-33776670	ENSG00000205452.4
21	lnc-RP11-1277H1.1.1-2	chr16:33340193-33341795	XLOC_011696

No data

Variant related genes	Relation type
ENSG00000262090	TF binding region
ENSG00000261607	TF binding region
ENSG00000205452	TF binding region
ENSG00000260525	TF binding region
IGHV3OR16-16	TF binding region
ENSG00000261153	TF binding region
ENSG00000259680	TF binding region
ENSG00000260312	TF binding region
IGHV3OR16-12	TF binding region
ENSG00000259882	TF binding region
ENSG00000263277	TF binding region
ENSG00000270401	TF binding region
ENSG00000260308	TF binding region
ENSG00000261466	TF binding region
ENSG00000261405	TF binding region
IGHV3OR16-11	TF binding region
IGHV3OR16-13	TF binding region
ENSG00000260626	TF binding region
IGHV3OR16-7	TF binding region
ENSG00000263204	TF binding region
ENPP7P13	TF binding region
ENSG00000261200	TF binding region
ENSG00000198555	TF binding region
ENSG00000271691	TF binding region
ENSG00000270924	TF binding region
ARHGAP23P1	TF binding region
BMS1P8	TF binding region
ENSG00000262090	CpG island
ENSG00000261607	CpG island
ENSG00000205452	CpG island
ENSG00000260525	CpG island
IGHV3OR16-16	CpG island
ENSG00000261153	CpG island
ENSG00000259680	CpG island
ENSG00000260312	CpG island
IGHV3OR16-12	CpG island
ENSG00000259882	CpG island
ENSG00000263277	CpG island
ENSG00000270401	CpG island
ENSG00000260308	CpG island
ENSG00000261466	CpG island
ENSG00000261405	CpG island
IGHV3OR16-11	CpG island
IGHV3OR16-13	CpG island
ENSG00000260626	CpG island
IGHV3OR16-7	CpG island
ENSG00000263204	CpG island
ENPP7P13	CpG island
ENSG00000261200	CpG island
ENSG00000198555	CpG island
ENSG00000271691	CpG island
ENSG00000270924	CpG island
ARHGAP23P1	CpG island
BMS1P8	CpG island
ENSG00000259680	chromatin interactions
ENSG00000101972	chromatin interactions
UHMK1	miRNA target sites

Extended variants
information (count: 11142 )
Associated
traits (count: 130 )

Variant overlapped rSNPs/rCNVs (count:11142 , 50 per page) page: 1 2 3 4 5 6 7 ... 223

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577029445	chr16:33287352-33287353	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs111218543	chr16:33293191-33293192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62653188	chr16:33293276-33293277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201510138	chr16:33293331-33293332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111218530	chr16:33293578-33293579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201037654	chr16:33293726-33293727	ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs111218335	chr16:33293728-33293729	ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs201957363	chr16:33293730-33293731	ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs192272298	chr16:33293731-33293732	ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs544896831	chr16:33293732-33293733	ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs138429943	chr16:33293740-33293741	ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs141942167	chr16:33293753-33293754	ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs144825095	chr16:33293755-33293756	ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs142090830	chr16:33293757-33293758	ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs111218410	chr16:33293758-33293759	ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs61725985	chr16:33293763-33293764	ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs375327477	chr16:33293765-33293766	ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs13331778	chr16:33293768-33293769	ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs369690298	chr16:33293771-33293772	ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs369951464	chr16:33293776-33293777	ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs62652064	chr16:33293779-33293780	ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs372914619	chr16:33293780-33293781	ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs147952311	chr16:33293781-33293782	ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs374036599	chr16:33293784-33293785	ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs377098666	chr16:33293791-33293792	ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs377272011	chr16:33293793-33293794	ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs61724212	chr16:33293795-33293796	ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs62653190	chr16:33293797-33293798	ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs62645353	chr16:33293798-33293799	ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs200433669	chr16:33293799-33293800	ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs369937708	chr16:33293806-33293807	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375376015	chr16:33293808-33293809	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373096259	chr16:33293810-33293811	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201904350	chr16:33293811-33293812	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368674839	chr16:33293829-33293830	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185063252	chr16:33293830-33293831	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs62653191	chr16:33293831-33293832	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs61721085	chr16:33293896-33293897	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs62653192	chr16:33293897-33293898	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12445255	chr16:33293915-33293916	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200347869	chr16:33293925-33293926	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs62636094	chr16:33293941-33293942	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111067714	chr16:33293958-33293959	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs28971840	chr16:33294036-33294037	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7499098	chr16:33294039-33294040	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201701600	chr16:33294092-33294093	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs62653194	chr16:33294094-33294095	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs199658194	chr16:33294107-33294108	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7499089	chr16:33294109-33294110	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7498714	chr16:33294126-33294127	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:130)

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
small cell lung cancer	20016488	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
Sezary syndrome	18413736	CNVD
Wilms tumour	21544195	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Autism	19287141	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:33293000-33293800	Weak transcription	Fetal Lung	lung
2	chr16:33293600-33293800	Bivalent Enhancer	Placenta	Placenta
3	chr16:33293600-33293800	Enhancers	Right Ventricle	heart
4	chr16:33293600-33293800	Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr16:33293600-33294400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
6	chr16:33293600-33294600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
7	chr16:33293600-33294600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr16:33293600-33294600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
9	chr16:33293600-33294600	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr16:33293600-33294600	ZNF genes & repeats	Colonic Mucosa	Colon
11	chr16:33293600-33294600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
12	chr16:33293600-33294600	ZNF genes & repeats	Esophagus	oesophagus
13	chr16:33293600-33294600	Active TSS	Fetal Heart	heart
14	chr16:33293600-33294600	ZNF genes & repeats	Gastric	stomach
15	chr16:33293600-33294600	ZNF genes & repeats	Lung	lung
16	chr16:33293600-33294600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
17	chr16:33293600-33294600	ZNF genes & repeats	Right Atrium	heart
18	chr16:33293600-33294600	ZNF genes & repeats	HepG2	liver
19	chr16:33293600-33294600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
20	chr16:33293600-33294800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr16:33293600-33294800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr16:33293600-33294800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
23	chr16:33293600-33294800	ZNF genes & repeats	Pancreas	Pancrea
24	chr16:33293600-33294800	ZNF genes & repeats	Spleen	Spleen
25	chr16:33293600-33295000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
26	chr16:33293600-33295000	ZNF genes & repeats	Fetal Stomach	stomach
27	chr16:33293800-33294000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
28	chr16:33293800-33294000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
29	chr16:33293800-33294000	ZNF genes & repeats	GM12878-XiMat	blood
30	chr16:33293800-33294200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
31	chr16:33293800-33294200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr16:33293800-33294200	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
33	chr16:33293800-33294200	Flanking Bivalent TSS/Enh	Placenta	Placenta
34	chr16:33293800-33294200	Bivalent Enhancer	Left Ventricle	heart
35	chr16:33293800-33294200	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
36	chr16:33293800-33294200	Enhancers	Psoas Muscle	Psoas
37	chr16:33293800-33294200	ZNF genes & repeats	Small Intestine	intestine
38	chr16:33293800-33294200	ZNF genes & repeats	HSMM	muscle
39	chr16:33293800-33294200	ZNF genes & repeats	NHLF	lung
40	chr16:33293800-33294400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr16:33293800-33294400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
42	chr16:33293800-33294400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr16:33293800-33294400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
44	chr16:33293800-33294400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
45	chr16:33293800-33294400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
46	chr16:33293800-33294400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr16:33293800-33294400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
48	chr16:33293800-33294400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
49	chr16:33293800-33294400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr16:33293800-33294400	ZNF genes & repeats	Aorta	Aorta

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