Variant report

Variant	esv3376994
Chromosome Location	chr16:80836476-80839824
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr16:80837137-80837466	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL3	chr16:80838415-80838640	GM12878	blood:	n/a	n/a
3	BRCA1	chr16:80837217-80837371	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr16:80838097-80838323	IMR90	lung:	n/a	n/a
5	CEBPB	chr16:80837162-80837373	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr16:80838023-80838336	Hela-S3	cervix:	n/a	n/a
7	CHD2	chr16:80838303-80838853	Hela-S3	cervix:	n/a	n/a
8	CHD2	chr16:80837220-80837790	Hela-S3	cervix:	n/a	n/a
9	CHD2	chr16:80838188-80838190	HepG2	liver:	n/a	n/a
10	CTCF	chr16:80837240-80837390	GM12868	blood:	n/a	chr16:80837328-80837344
11	CTCF	chr16:80838111-80838187	GM19238	blood:	n/a	n/a
12	CTCF	chr16:80837240-80837390	HPAF	blood vessel:	n/a	chr16:80837328-80837344
13	CTCF	chr16:80837260-80837410	Hela-S3	cervix:	n/a	chr16:80837328-80837344
14	CTCF	chr16:80838382-80838514	MCF-7	breast:	n/a	n/a
15	CTCF	chr16:80837260-80837410	RPTEC	kidney:	n/a	chr16:80837328-80837344
16	CTCF	chr16:80837279-80837412	Spleen_OC	spleen:	n/a	chr16:80837328-80837344
17	CTCF	chr16:80837220-80837370	MCF-7	breast:	n/a	chr16:80837328-80837344
18	CTCF	chr16:80838374-80838507	Fibrobl	skin:	n/a	n/a
19	CTCF	chr16:80837300-80837450	HCM	heart:	n/a	chr16:80837328-80837344 chr16:80837415-80837428
20	CTCF	chr16:80837240-80837390	NB4	blood:	n/a	chr16:80837328-80837344
21	CTCF	chr16:80837155-80837500	GM12878	blood:	n/a	chr16:80837328-80837344 chr16:80837415-80837428
22	CTCF	chr16:80837220-80837370	AG10803	skin:	n/a	chr16:80837328-80837344
23	CTCF	chr16:80837280-80837430	Hela-S3	cervix:	n/a	chr16:80837328-80837344 chr16:80837415-80837428
24	CTCF	chr16:80838379-80838534	GM12892	blood:	n/a	n/a
25	CTCF	chr16:80837147-80837497	K562	blood:	n/a	chr16:80837328-80837344 chr16:80837415-80837428
26	CTCF	chr16:80837680-80837830	BJ	skin:	n/a	n/a
27	CTCF	chr16:80838320-80838470	GM12866	blood:	n/a	n/a
28	CTCF	chr16:80836960-80837110	HPF	lung:	n/a	n/a
29	CTCF	chr16:80837174-80837480	GM19238	blood:	n/a	chr16:80837328-80837344 chr16:80837415-80837428
30	CTCF	chr16:80837192-80837444	GM12878	blood:	n/a	chr16:80837328-80837344 chr16:80837415-80837428
31	CTCF	chr16:80837173-80837468	K562	blood:	n/a	chr16:80837328-80837344 chr16:80837415-80837428
32	CTCF	chr16:80837220-80837370	HMF	breast:	n/a	chr16:80837328-80837344
33	CTCF	chr16:80837215-80837221	GM10266	blood:	n/a	n/a
34	CTCF	chr16:80838348-80838519	MCF-7	breast:	n/a	n/a
35	CTCF	chr16:80837220-80837370	HFF	foreskin:	n/a	chr16:80837328-80837344
36	CTCF	chr16:80837260-80837410	A549	lung:	n/a	chr16:80837328-80837344
37	CTCF	chr16:80837308-80837397	Lung_OC	lung:	n/a	chr16:80837328-80837344
38	CTCF	chr16:80837240-80837390	GM12864	blood:	n/a	chr16:80837328-80837344
39	CTCF	chr16:80837260-80837410	AG09319	gingival:	n/a	chr16:80837328-80837344
40	CTCF	chr16:80837020-80837170	NHLF	lung:	n/a	n/a
41	CTCF	chr16:80837208-80837420	K562	blood:	n/a	chr16:80837328-80837344
42	CTCF	chr16:80838378-80838516	MCF-7	breast:	n/a	n/a
43	CTCF	chr16:80837178-80837466	GM12892	blood:	n/a	chr16:80837328-80837344 chr16:80837415-80837428
44	CTCF	chr16:80837240-80837390	HBMEC	blood vessel:	n/a	chr16:80837328-80837344
45	CTCF	chr16:80837220-80837370	HVMF	connective:	n/a	chr16:80837328-80837344
46	CTCF	chr16:80837260-80837410	GM12872	blood:	n/a	chr16:80837328-80837344
47	CTCF	chr16:80837241-80837421	Kidney_OC	kidney:	n/a	chr16:80837328-80837344
48	CTCF	chr16:80838416-80838492	Pancreas_OC	pancreas:	n/a	n/a
49	CTCF	chr16:80838400-80838506	GM10266	blood:	n/a	n/a
50	CTCF	chr16:80837260-80837410	GM12874	blood:	n/a	chr16:80837328-80837344

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:80838265-80838315	Hela-S3	cervix:	n/a
2	chr16:80839183-80839233	GM19239	blood:	n/a
3	chr16:80838258-80838308	GM12891	blood:	n/a
4	chr16:80838265-80838315	MCF10A-Er-Src	breast:	n/a
5	chr16:80838258-80838308	BJ	skin:	n/a
6	chr16:80839183-80839233	Hepatocyte	liver:	n/a
7	chr16:80838738-80838788	Hepatocyte	liver:	n/a
8	chr16:80838738-80838788	HCPEpiC	choroid plexus:	n/a
9	chr16:80839183-80839233	LNCaP	prostate:	n/a
10	chr16:80838258-80838308	SKMC	muscle:	n/a
11	chr16:80838258-80838308	ECC-1	luminal epithelium:	n/a
12	chr16:80838265-80838315	HRCEpiC	kidney:	n/a
13	chr16:80838265-80838315	AG04450	lung:	fetal
14	chr16:80838258-80838308	SK-N-SH	brain:	n/a
15	chr16:80839183-80839233	HIPEpiC	eye:	n/a
16	chr16:80838258-80838308	ovcar-3	ovarian:	n/a
17	chr16:80838738-80838788	H1-hESC	embryonic stem cell:	embryo
18	chr16:80838265-80838315	K562	blood:	n/a
19	chr16:80838265-80838315	AG04449	skin:	fetal
20	chr16:80838738-80838788	Hela-S3	cervix:	n/a
21	chr16:80838265-80838315	HCF	heart:	n/a
22	chr16:80839183-80839233	PFSK-1	brain:	n/a
23	chr16:80839183-80839233	H1-hESC	embryonic stem cell:	embryo
24	chr16:80838738-80838788	SK-N-SH	brain:	n/a
25	chr16:80838258-80838308	Hepatocyte	liver:	n/a
26	chr16:80839183-80839233	AG10803	skin:	n/a
27	chr16:80838738-80838788	GM12878	blood:	n/a
28	chr16:80839183-80839233	A549	lung:	n/a
29	chr16:80838738-80838788	AG04450	lung:	fetal
30	chr16:80838258-80838308	LNCaP	prostate:	n/a
31	chr16:80838265-80838315	AG09309	skin:	n/a
32	chr16:80838265-80838315	SK-N-SH_RA	brain:	n/a
33	chr16:80838258-80838308	HIPEpiC	eye:	n/a
34	chr16:80838738-80838788	AG09319	gingival:	n/a
35	chr16:80839183-80839233	HL-60	blood:	n/a
36	chr16:80838738-80838788	HRE	kidney:	n/a
37	chr16:80839183-80839233	PrEC	prostate:	n/a
38	chr16:80838265-80838315	U87	brain:	n/a
39	chr16:80838738-80838788	HNPCEpiC	eye:	n/a
40	chr16:80838738-80838788	LNCaP	prostate:	n/a
41	chr16:80838738-80838788	HCF	heart:	n/a
42	chr16:80839183-80839233	HepG2	liver:	n/a
43	chr16:80838265-80838315	AoSMC	blood vessel:	n/a
44	chr16:80838738-80838788	GM12891	blood:	n/a
45	chr16:80838265-80838315	GM19239	blood:	n/a
46	chr16:80838265-80838315	SK-N-MC	brain:	n/a
47	chr16:80838738-80838788	HEEpiC	esophagus:	n/a
48	chr16:80839183-80839233	U87	brain:	n/a
49	chr16:80838258-80838308	AG04450	lung:	fetal
50	chr16:80838265-80838315	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:80744840..80746889-chr16:80835828..80837978,2	MCF-7	breast:
2	chr16:80836267..80838116-chr16:81067816..81069508,2	MCF-7	breast:
3	chr16:80653224..80655610-chr16:80835327..80837663,2	MCF-7	breast:
4	chr16:80836730..80839628-chr16:80867393..80871297,3	MCF-7	breast:
5	chr16:80839103..80839861-chr16:80858662..80859582,2	K562	blood:
6	chr16:80838427..80840322-chr16:80885425..80887354,2	MCF-7	breast:
7	chr16:80745711..80747675-chr16:80834808..80837555,2	MCF-7	breast:
8	chr16:80625101..80626775-chr16:80839502..80841949,2	MCF-7	breast:
9	chr16:80742029..80744707-chr16:80834367..80837032,2	MCF-7	breast:
10	chr16:80573487..80575142-chr16:80836688..80838672,2	MCF-7	breast:

Variant related genes	Relation type
CDYL2	TF binding region
CDYL2	CpG island
ENSG00000166454	chromatin interactions
ENSG00000260896	chromatin interactions
ENSG00000168589	chromatin interactions
ENSG00000259867	chromatin interactions
ENSG00000260213	chromatin interactions

Extended variants
information (count: 111 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566433008	chr16:80836480-80836481	Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs534693587	chr16:80836499-80836500	Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs552988498	chr16:80836543-80836544	Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs574574652	chr16:80836551-80836552	Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs369209715	chr16:80836558-80836559	Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs541985293	chr16:80836571-80836572	Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs557448218	chr16:80836572-80836573	Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs575712876	chr16:80836663-80836664	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs74030452	chr16:80836678-80836679	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs569335957	chr16:80836696-80836697	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs564625126	chr16:80836703-80836704	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs573623336	chr16:80836711-80836712	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs183205777	chr16:80836740-80836741	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs547595700	chr16:80836757-80836758	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs188076202	chr16:80836830-80836831	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs528920565	chr16:80836839-80836840	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs74030453	chr16:80836842-80836843	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs74708174	chr16:80836844-80836845	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs558084084	chr16:80836857-80836858	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs73583955	chr16:80836874-80836875	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs77674374	chr16:80836875-80836876	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs144631021	chr16:80836885-80836886	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs74030455	chr16:80836926-80836927	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs553779425	chr16:80836931-80836932	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs369717837	chr16:80836955-80836956	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs546566177	chr16:80836969-80836970	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs138385040	chr16:80836986-80836987	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs535856426	chr16:80836992-80836993	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs554180134	chr16:80837004-80837005	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs74030456	chr16:80837008-80837009	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs575693239	chr16:80837034-80837035	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs34592681	chr16:80837035-80837036	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs539637971	chr16:80837052-80837053	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs117035243	chr16:80837120-80837121	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs149234971	chr16:80837137-80837138	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs368135853	chr16:80837139-80837140	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs540902264	chr16:80837218-80837219	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs372059733	chr16:80837221-80837222	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs562385382	chr16:80837235-80837236	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs573517624	chr16:80837242-80837243	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs375073851	chr16:80837257-80837258	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs192357487	chr16:80837258-80837259	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs562361334	chr16:80837275-80837276	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs73583957	chr16:80837284-80837285	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs562440594	chr16:80837294-80837295	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs114094868	chr16:80837363-80837364	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs144502647	chr16:80837370-80837371	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs559943399	chr16:80837376-80837377	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs527502757	chr16:80837384-80837385	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs548829286	chr16:80837406-80837407	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD

Chromatin state (count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80822600-80837200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr16:80827800-80837000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr16:80829200-80836800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr16:80832400-80838800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr16:80835800-80836600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr16:80835800-80836600	Enhancers	HUVEC	blood vessel
7	chr16:80836000-80837200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr16:80836200-80836600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr16:80836400-80836600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:80836400-80836600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr16:80836400-80836800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr16:80836400-80836800	Enhancers	Duodenum Mucosa	Duodenum
13	chr16:80836400-80836800	ZNF genes & repeats	Fetal Intestine Small	intestine
14	chr16:80836400-80837000	Transcr. at gene 5' and 3'	Hela-S3	cervix
15	chr16:80836400-80837200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr16:80836400-80837200	Enhancers	Gastric	stomach
17	chr16:80836400-80837600	Enhancers	Esophagus	oesophagus
18	chr16:80836400-80838200	Active TSS	Brain Angular Gyrus	brain
19	chr16:80836600-80836800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr16:80836600-80837000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:80836600-80837000	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr16:80836600-80837000	Enhancers	Placenta	Placenta
23	chr16:80836600-80837200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr16:80836600-80837400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr16:80836600-80837400	Flanking Active TSS	HUVEC	blood vessel
26	chr16:80836600-80839000	Active TSS	HSMM	muscle
27	chr16:80836800-80837000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr16:80836800-80837000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr16:80836800-80837000	Enhancers	Primary T cells fromperipheralblood	blood
30	chr16:80836800-80837000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr16:80836800-80837000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr16:80836800-80837000	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr16:80836800-80837200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr16:80836800-80837200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr16:80836800-80837200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
36	chr16:80836800-80837200	Weak transcription	Fetal Intestine Small	intestine
37	chr16:80836800-80837200	Enhancers	Pancreas	Pancrea
38	chr16:80836800-80837200	Enhancers	Small Intestine	intestine
39	chr16:80836800-80837400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr16:80836800-80838600	Active TSS	Primary hematopoietic stem cells	blood
41	chr16:80836800-80838600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr16:80836800-80838800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr16:80836800-80838800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr16:80836800-80838800	Active TSS	NH-A	brain
45	chr16:80836800-80838800	Active TSS	NHEK	skin
46	chr16:80836800-80839000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr16:80836800-80839000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
48	chr16:80837000-80837200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr16:80837000-80837200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
50	chr16:80837000-80837200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell

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