Variant report

Variant	esv1842551
Chromosome Location	chr13:53420679-53423105
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:276)
CpG islands
(count:794)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:276 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr13:53421041-53421373	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr13:53422901-53423101	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr13:53421122-53421430	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr13:53422185-53422650	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr13:53421091-53421371	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chr13:53420985-53421432	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD2	chr13:53420283-53420746	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr13:53422642-53423065	H1-hESC	embryonic stem cell:	n/a	chr13:53422780-53422790
9	CREB1	chr13:53420952-53421740	H1-hESC	embryonic stem cell:	n/a	n/a
10	CREB1	chr13:53420162-53421579	H1-hESC	embryonic stem cell:	n/a	n/a
11	CREB1	chr13:53420199-53420913	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTBP2	chr13:53419411-53421546	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTBP2	chr13:53422505-53423298	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr13:53421140-53421290	GM12870	blood:	n/a	n/a
15	CTCF	chr13:53421180-53421330	HCPEpiC	choroid plexus:	n/a	n/a
16	CTCF	chr13:53421134-53421369	LNCaP	prostate:	n/a	n/a
17	CTCF	chr13:53421220-53421370	HMEC	breast:	n/a	n/a
18	CTCF	chr13:53421220-53421370	GM12873	blood:	n/a	n/a
19	CTCF	chr13:53421240-53421390	HCPEpiC	choroid plexus:	n/a	n/a
20	CTCF	chr13:53421181-53421365	Pancreas_OC	pancreas:	n/a	n/a
21	CTCF	chr13:53420234-53420773	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr13:53421220-53421233	GM12891	blood:	n/a	n/a
23	CTCF	chr13:53421112-53421450	IMR90	lung:	n/a	n/a
24	CTCF	chr13:53421200-53421350	HCT-116	colon:	n/a	n/a
25	CTCF	chr13:53421120-53421270	HAc	cerebellar:	n/a	n/a
26	CTCF	chr13:53421189-53421356	MCF-7	breast:	n/a	n/a
27	CTCF	chr13:53422791-53422792	LNCaP	prostate:	n/a	n/a
28	CTCF	chr13:53421180-53421330	HRE	kidney:	n/a	n/a
29	CTCF	chr13:53422796-53422823	LNCaP	prostate:	n/a	n/a
30	CTCF	chr13:53420302-53420703	Fibrobl	skin:	n/a	n/a
31	CTCF	chr13:53421120-53421270	NHDF-neo	bronchial:	n/a	n/a
32	CTCF	chr13:53420240-53420718	MCF-7	breast:	n/a	n/a
33	CTCF	chr13:53420168-53421513	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr13:53421188-53421315	GM19239	blood:	n/a	n/a
35	CTCF	chr13:53420440-53420730	HL-60	blood:	n/a	n/a
36	CTCF	chr13:53421183-53421185	GM19239	blood:	n/a	n/a
37	CTCF	chr13:53421176-53421372	GM19238	blood:	n/a	n/a
38	CTCF	chr13:53421200-53421350	HRE	kidney:	n/a	n/a
39	CTCF	chr13:53421220-53421370	AG09319	gingival:	n/a	n/a
40	CTCF	chr13:53421200-53421350	HAc	cerebellar:	n/a	n/a
41	CTCF	chr13:53421180-53421330	WERI-Rb-1	eye:	n/a	n/a
42	CTCF	chr13:53421180-53421330	HCFaa	heart:	n/a	n/a
43	CTCF	chr13:53421200-53421350	HEEpiC	esophagus:	n/a	n/a
44	CTCF	chr13:53420122-53421762	SK-N-SH	brain:	n/a	n/a
45	CTCF	chr13:53421200-53421350	RPTEC	kidney:	n/a	n/a
46	CTCF	chr13:53421140-53421290	GM12874	blood:	n/a	n/a
47	CTCF	chr13:53421260-53421410	GM12871	blood:	n/a	n/a
48	CTCF	chr13:53421177-53421368	Medullo	brain:	n/a	n/a
49	CTCF	chr13:53421220-53421370	GM12867	blood:	n/a	n/a
50	CTCF	chr13:53421200-53421350	SAEC	small airway:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:53422691-53422741	NHDF-neo	bronchial:	n/a
2	chr13:53422691-53422741	NHDF-neo	bronchial:	n/a
3	chr13:53422777-53422827	T-47D	breast:	n/a
4	chr13:53422847-53422897	AG10803	skin:	n/a
5	chr13:53421688-53421738	HRPEpiC	eye:	n/a
6	chr13:53422847-53422897	HRCEpiC	kidney:	n/a
7	chr13:53422691-53422741	SKMC	muscle:	n/a
8	chr13:53422808-53422858	HCT-116	colon:	n/a
9	chr13:53422808-53422858	HEK293	kidney:	embryo
10	chr13:53423078-53423128	PANC-1	pancreas:	n/a
11	chr13:53422780-53422830	GM19239	blood:	n/a
12	chr13:53421688-53421738	Jurkat	blood:	n/a
13	chr13:53423078-53423128	PFSK-1	brain:	n/a
14	chr13:53422474-53422524	HNPCEpiC	eye:	n/a
15	chr13:53422691-53422741	PFSK-1	brain:	n/a
16	chr13:53423078-53423128	AoSMC	blood vessel:	n/a
17	chr13:53422777-53422827	GM06990	blood:	n/a
18	chr13:53422808-53422858	T-47D	breast:	n/a
19	chr13:53422780-53422830	AG04450	lung:	fetal
20	chr13:53422780-53422830	HIPEpiC	eye:	n/a
21	chr13:53422860-53422910	HRE	kidney:	n/a
22	chr13:53422691-53422741	BJ	skin:	n/a
23	chr13:53421688-53421738	AG09319	gingival:	n/a
24	chr13:53422474-53422524	AG09319	gingival:	n/a
25	chr13:53423037-53423087	Jurkat	blood:	n/a
26	chr13:53422860-53422910	NHDF-neo	bronchial:	n/a
27	chr13:53422474-53422524	SKMC	muscle:	n/a
28	chr13:53422780-53422830	AG09309	skin:	n/a
29	chr13:53422808-53422858	HepG2	liver:	n/a
30	chr13:53422860-53422910	HEK293	kidney:	embryo
31	chr13:53423078-53423128	HIPEpiC	eye:	n/a
32	chr13:53422860-53422910	PFSK-1	brain:	n/a
33	chr13:53422474-53422524	HCF	heart:	n/a
34	chr13:53422777-53422827	A549	lung:	n/a
35	chr13:53422691-53422741	HRPEpiC	eye:	n/a
36	chr13:53423078-53423128	HCT-116	colon:	n/a
37	chr13:53422691-53422741	AG09309	skin:	n/a
38	chr13:53422780-53422830	HPAEpiC	pulmonary alveolar:	n/a
39	chr13:53422847-53422897	SK-N-MC	brain:	n/a
40	chr13:53422381-53422431	GM19239	blood:	n/a
41	chr13:53422780-53422830	HCT-116	colon:	n/a
42	chr13:53422860-53422910	Jurkat	blood:	n/a
43	chr13:53423037-53423087	H1-hESC	embryonic stem cell:	embryo
44	chr13:53423037-53423087	AG09319	gingival:	n/a
45	chr13:53420933-53420983	NT2-D1	testis:	n/a
46	chr13:53422777-53422827	Hela-S3	cervix:	n/a
47	chr13:53422474-53422524	A549	lung:	n/a
48	chr13:53423037-53423087	HMEC	breast:	n/a
49	chr13:53422860-53422910	AG09309	skin:	n/a
50	chr13:53422381-53422431	PFSK-1	brain:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:53317860..53318834-chr13:53420019..53420858,3	MCF-7	breast:
2	chr13:53239322..53239980-chr13:53420318..53420910,2	MCF-7	breast:
3	chr13:53226555..53228977-chr13:53419370..53422779,3	MCF-7	breast:
4	chr13:53416128..53422445-chr13:53423052..53427915,11	MCF-7	breast:
5	chr13:53419410..53422161-chr13:53423908..53427048,5	MCF-7	breast:
6	chr13:53416128..53422445-chr13:53423052..53427915,11	MCF-7	breast:
7	chr13:53422829..53424558-chr13:53771804..53774307,2	MCF-7	breast:
8	chr13:53239189..53240278-chr13:53420342..53420888,4	MCF-7	breast:

No data

Variant related genes	Relation type
PCDH8	TF binding region
PCDH8	CpG island
ENSG00000165416	chromatin interactions
ENSG00000225510	chromatin interactions

Extended variants
information (count: 102 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376981996	chr13:53420704-53420705	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs369964308	chr13:53420714-53420715	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs531087312	chr13:53420743-53420744	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs139773461	chr13:53420755-53420756	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs145276003	chr13:53420778-53420779	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs147678631	chr13:53420779-53420780	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs373430745	chr13:53420794-53420795	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs375760568	chr13:53420795-53420796	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs142341255	chr13:53420850-53420851	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547004733	chr13:53420873-53420874	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs566855715	chr13:53420874-53420875	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs5030684	chr13:53420886-53420887	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs368954348	chr13:53420887-53420888	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs373398146	chr13:53420935-53420936	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs569010691	chr13:53420990-53420991	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs376417331	chr13:53421033-53421034	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs56292728	chr13:53421073-53421074	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs371216947	chr13:53421090-53421091	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs200547926	chr13:53421121-53421122	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs536819865	chr13:53421165-53421166	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs201454740	chr13:53421215-53421216	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs576663048	chr13:53421216-53421217	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs371340380	chr13:53421219-53421220	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs373654583	chr13:53421240-53421241	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs538014890	chr13:53421263-53421264	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs551581913	chr13:53421335-53421336	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs367757171	chr13:53421358-53421359	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs572790621	chr13:53421415-53421416	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs3742300	chr13:53421432-53421433	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs561719462	chr13:53421441-53421442	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs575433628	chr13:53421454-53421455	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs544784507	chr13:53421467-53421468	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs9596693	chr13:53421473-53421474	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs371311120	chr13:53421483-53421484	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs201490995	chr13:53421491-53421492	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs374758530	chr13:53421493-53421494	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs547262200	chr13:53421508-53421509	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs560631314	chr13:53421561-53421562	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs529238870	chr13:53421608-53421609	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs200298001	chr13:53421612-53421613	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs367929665	chr13:53421626-53421627	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs55662973	chr13:53421635-53421636	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs111795627	chr13:53421678-53421679	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs558986531	chr13:53421786-53421787	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs371597027	chr13:53421810-53421811	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs188088285	chr13:53421824-53421825	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs45545031	chr13:53422008-53422009	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs369468266	chr13:53422059-53422060	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs372333688	chr13:53422079-53422080	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs145753675	chr13:53422139-53422140	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:276 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53418400-53422400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:53418600-53420800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
3	chr13:53418600-53420800	Bivalent Enhancer	Spleen	Spleen
4	chr13:53418600-53421800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:53418800-53422800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:53418800-53422800	Enhancers	Pancreas	Pancrea
7	chr13:53419200-53420800	Bivalent Enhancer	Fetal Thymus	thymus
8	chr13:53419400-53421000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr13:53419400-53422000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr13:53419400-53422200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr13:53419400-53422600	Bivalent Enhancer	Lung	lung
12	chr13:53419400-53422800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr13:53419400-53423000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr13:53419400-53423200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr13:53419400-53423200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr13:53419400-53423200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
17	chr13:53419600-53421000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
18	chr13:53419600-53421000	Enhancers	Gastric	stomach
19	chr13:53419600-53421200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
20	chr13:53419600-53421200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
21	chr13:53419600-53421400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
22	chr13:53419600-53422400	Bivalent Enhancer	Fetal Brain Male	brain
23	chr13:53419600-53422600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr13:53419600-53422600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
25	chr13:53419600-53424400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
26	chr13:53419800-53420800	Bivalent/Poised TSS	Fetal Brain Female	brain
27	chr13:53419800-53421000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr13:53419800-53421400	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr13:53419800-53421600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr13:53419800-53422200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
31	chr13:53419800-53422800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr13:53420000-53420800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:53420000-53420800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
34	chr13:53420000-53421600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
35	chr13:53420000-53421800	Enhancers	Fetal Heart	heart
36	chr13:53420000-53422800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
37	chr13:53420000-53423200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr13:53420000-53424000	ZNF genes & repeats	GM12878-XiMat	blood
39	chr13:53420200-53420800	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr13:53420200-53420800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr13:53420200-53420800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr13:53420200-53420800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
43	chr13:53420200-53420800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
44	chr13:53420200-53420800	Bivalent Enhancer	Left Ventricle	heart
45	chr13:53420200-53421000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
46	chr13:53420200-53421200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
47	chr13:53420200-53421200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
48	chr13:53420200-53421200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr13:53420200-53421200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
50	chr13:53420200-53421200	Enhancers	Right Atrium	heart

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