Variant report

Variant	esv3358424
Chromosome Location	chr19:56987565-56990113
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	ATF3	chr19:56988997-56989631	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr19:56988129-56989735	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr19:56989421-56989451	K562	blood:	n/a	n/a
4	CEBPB	chr19:56989481-56989788	A549	lung:	n/a	chr19:56989652-56989661 chr19:56989652-56989661 chr19:56989652-56989661
5	CEBPB	chr19:56989489-56989808	HepG2	liver:	n/a	chr19:56989652-56989661 chr19:56989652-56989661 chr19:56989652-56989661
6	CEBPB	chr19:56989477-56989808	K562	blood:	n/a	chr19:56989652-56989661 chr19:56989652-56989661 chr19:56989652-56989661
7	CEBPB	chr19:56989368-56989798	H1-hESC	embryonic stem cell:	n/a	chr19:56989652-56989661 chr19:56989652-56989661 chr19:56989652-56989661
8	CEBPB	chr19:56989289-56990099	IMR90	lung:	n/a	chr19:56989652-56989661 chr19:56989652-56989661 chr19:56989652-56989661
9	CHD1	chr19:56989564-56989769	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr19:56988838-56989767	H1-hESC	embryonic stem cell:	n/a	n/a
11	CREB1	chr19:56988682-56989729	H1-hESC	embryonic stem cell:	n/a	n/a
12	CREB1	chr19:56988661-56989763	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr19:56989340-56989490	HUVEC	blood vessel:	n/a	n/a
14	CTCF	chr19:56989579-56989599	NHEK	skin:	n/a	n/a
15	E2F6	chr19:56988686-56989712	H1-hESC	embryonic stem cell:	n/a	chr19:56989501-56989510 chr19:56988928-56988937 chr19:56988701-56988710 chr19:56989208-56989217 chr19:56988783-56988792
16	E2F6	chr19:56989021-56989244	K562	blood:	n/a	chr19:56989208-56989217
17	E2F6	chr19:56988203-56989479	H1-hESC	embryonic stem cell:	n/a	chr19:56988928-56988937 chr19:56988701-56988710 chr19:56988590-56988599 chr19:56989208-56989217 chr19:56988483-56988492 chr19:56988783-56988792
18	EGR1	chr19:56989016-56989190	K562	blood:	n/a	chr19:56989140-56989162 chr19:56989145-56989155
19	EGR1	chr19:56989018-56989257	K562	blood:	n/a	chr19:56989140-56989162 chr19:56989145-56989155 chr19:56989208-56989217 chr19:56989197-56989204
20	FOXP2	chr19:56989021-56989651	PFSK-1	brain:	n/a	n/a
21	GTF2F1	chr19:56988825-56988910	H1-hESC	embryonic stem cell:	n/a	n/a
22	GTF2F1	chr19:56989343-56989715	H1-hESC	embryonic stem cell:	n/a	n/a
23	HCFC1	chr19:56989290-56989628	K562	blood:	n/a	n/a
24	HDAC2	chr19:56988345-56989035	H1-hESC	embryonic stem cell:	n/a	n/a
25	HDAC2	chr19:56988726-56988942	H1-hESC	embryonic stem cell:	n/a	n/a
26	JUND	chr19:56989131-56989612	H1-hESC	embryonic stem cell:	n/a	n/a
27	JUND	chr19:56988646-56988918	H1-hESC	embryonic stem cell:	n/a	n/a
28	KAP1	chr19:56989045-56989778	U2OS	brain:	n/a	n/a
29	KAP1	chr19:56989097-56990085	HEK293	kidney:	n/a	n/a
30	MAFK	chr19:56987985-56988391	IMR90	lung:	n/a	n/a
31	MAX	chr19:56988166-56989814	H1-hESC	embryonic stem cell:	n/a	chr19:56988596-56988605 chr19:56988800-56988809 chr19:56988525-56988534 chr19:56988774-56988783
32	MAX	chr19:56988074-56990138	SK-N-SH	brain:	n/a	chr19:56988596-56988605 chr19:56988800-56988809 chr19:56989847-56989857 chr19:56988525-56988534 chr19:56988774-56988783
33	MAX	chr19:56988941-56989268	K562	blood:	n/a	n/a
34	MAX	chr19:56988725-56989843	H1-hESC	embryonic stem cell:	n/a	chr19:56988800-56988809 chr19:56988774-56988783
35	MAX	chr19:56988153-56989883	SK-N-SH	brain:	n/a	chr19:56988596-56988605 chr19:56988800-56988809 chr19:56989847-56989857 chr19:56988525-56988534 chr19:56988774-56988783
36	MAX	chr19:56988748-56989610	HUVEC	blood vessel:	n/a	chr19:56988800-56988809 chr19:56988774-56988783
37	MAX	chr19:56988208-56989757	H1-hESC	embryonic stem cell:	n/a	chr19:56988596-56988605 chr19:56988800-56988809 chr19:56988525-56988534 chr19:56988774-56988783
38	MAZ	chr19:56989377-56989525	K562	blood:	n/a	n/a
39	MAZ	chr19:56987654-56990331	IMR90	lung:	n/a	chr19:56988596-56988605 chr19:56988800-56988809 chr19:56989847-56989857 chr19:56988525-56988534 chr19:56988774-56988783
40	MXI1	chr19:56988365-56989933	H1-hESC	embryonic stem cell:	n/a	n/a
41	MXI1	chr19:56987781-56990043	IMR90	lung:	n/a	n/a
42	MXI1	chr19:56987494-56990858	SK-N-SH	brain:	n/a	n/a
43	MYC	chr19:56988538-56989762	H1-hESC	embryonic stem cell:	n/a	chr19:56988596-56988605 chr19:56988800-56988809 chr19:56988774-56988783
44	MYC	chr19:56989450-56989479	HUVEC	blood vessel:	n/a	n/a
45	MYC	chr19:56989496-56989536	HUVEC	blood vessel:	n/a	n/a
46	MYC	chr19:56988492-56988500	MCF-7	breast:	n/a	n/a
47	MYC	chr19:56988510-56988542	MCF-7	breast:	n/a	chr19:56988525-56988534
48	NRF1	chr19:56988221-56989850	SK-N-SH	brain:	n/a	chr19:56989497-56989511 chr19:56989209-56989218 chr19:56988924-56988938 chr19:56988702-56988711 chr19:56989500-56989514 chr19:56988783-56988792 chr19:56988927-56988938 chr19:56989207-56989218 chr19:56988697-56988711 chr19:56988929-56988938 chr19:56988700-56988714 chr19:56989204-56989218 chr19:56989500-56989511 chr19:56989207-56989221 chr19:56988927-56988941 chr19:56988700-56988711
49	NRF1	chr19:56988545-56989697	H1-hESC	embryonic stem cell:	n/a	chr19:56989497-56989511 chr19:56989209-56989218 chr19:56988924-56988938 chr19:56988702-56988711 chr19:56989500-56989514 chr19:56988783-56988792 chr19:56988927-56988938 chr19:56989207-56989218 chr19:56988697-56988711 chr19:56988929-56988938 chr19:56988700-56988714 chr19:56989204-56989218 chr19:56989500-56989511 chr19:56989207-56989221 chr19:56988927-56988941 chr19:56988700-56988711
50	POLR2A	chr19:56989543-56989655	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56989812-56989862	HMEC	breast:	n/a
2	chr19:56989740-56989790	U87	brain:	n/a
3	chr19:56989543-56989593	AG04449	skin:	fetal
4	chr19:56988956-56989006	SK-N-SH	brain:	n/a
5	chr19:56988398-56988448	HUVEC	blood vessel:	n/a
6	chr19:56989740-56989790	HL-60	blood:	n/a
7	chr19:56989740-56989790	HCF	heart:	n/a
8	chr19:56988813-56988863	HAEpiC	amniotic membrane:	n/a
9	chr19:56988935-56988985	BE2_C	brain:	n/a
10	chr19:56989543-56989593	HCM	heart:	n/a
11	chr19:56988929-56988979	AG09319	gingival:	n/a
12	chr19:56989812-56989862	HNPCEpiC	eye:	n/a
13	chr19:56989102-56989152	SK-N-SH_RA	brain:	n/a
14	chr19:56988398-56988448	AG10803	skin:	n/a
15	chr19:56988956-56989006	GM12892	blood:	n/a
16	chr19:56989740-56989790	Jurkat	blood:	n/a
17	chr19:56989543-56989593	PFSK-1	brain:	n/a
18	chr19:56988205-56988255	NHBE	bronchial:	n/a
19	chr19:56988398-56988448	BJ	skin:	n/a
20	chr19:56989543-56989593	Hela-S3	cervix:	n/a
21	chr19:56988935-56988985	ProgFib	skin:	n/a
22	chr19:56989102-56989152	GM19239	blood:	n/a
23	chr19:56988806-56988856	T-47D	breast:	n/a
24	chr19:56988956-56989006	NHBE	bronchial:	n/a
25	chr19:56988956-56989006	HRE	kidney:	n/a
26	chr19:56988806-56988856	U87	brain:	n/a
27	chr19:56988806-56988856	BE2_C	brain:	n/a
28	chr19:56989543-56989593	MCF10A-Er-Src	breast:	n/a
29	chr19:56989102-56989152	PrEC	prostate:	n/a
30	chr19:56988205-56988255	HMEC	breast:	n/a
31	chr19:56988205-56988255	CMK	blood:	n/a
32	chr19:56988398-56988448	SKMC	muscle:	n/a
33	chr19:56988935-56988985	CMK	blood:	n/a
34	chr19:56988778-56988828	ProgFib	skin:	n/a
35	chr19:56988702-56988752	AG04450	lung:	fetal
36	chr19:56988929-56988979	IMR90	lung:	fetal
37	chr19:56989102-56989152	SAEC	small airway:	n/a
38	chr19:56989543-56989593	Hepatocyte	liver:	n/a
39	chr19:56989740-56989790	SAEC	small airway:	n/a
40	chr19:56988935-56988985	GM06990	blood:	n/a
41	chr19:56989102-56989152	HRPEpiC	eye:	n/a
42	chr19:56988929-56988979	MCF-7	breast:	n/a
43	chr19:56989543-56989593	ovcar-3	ovarian:	n/a
44	chr19:56988398-56988448	HIPEpiC	eye:	n/a
45	chr19:56988398-56988448	HCPEpiC	choroid plexus:	n/a
46	chr19:56988929-56988979	SK-N-SH	brain:	n/a
47	chr19:56988398-56988448	Hepatocyte	liver:	n/a
48	chr19:56988205-56988255	Jurkat	blood:	n/a
49	chr19:56988929-56988979	HRE	kidney:	n/a
50	chr19:56989102-56989152	NT2-D1	testis:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC004696.1-1	chr19:56989609-56989662	ENSG00000166770.6
2	lnc-AC004696.1-1	chr19:56989493-56989645	NONHSAT068157
3	lnc-AC004696.1-1	chr19:56989552-56989645	ENSG00000166770.6
4	lnc-AC004696.1-1	chr19:56989559-56989746	ENSG00000166770.6
5	lnc-AC004696.1-1	chr19:56989524-56989750	ENSG00000166770.6
6	lnc-AC004696.1-1	chr19:56989552-56989645	ENSG00000166770.6
7	lnc-AC004696.1-1	chr19:56989500-56989750	ENSG00000166770.6
8	lnc-AC004696.1-1	chr19:56989552-56989750	ENSG00000166770.6
9	lnc-AC004696.1-1	chr19:56989526-56989645	ENSG00000166770.6
10	lnc-AC004696.1-1	chr19:56989243-56989750	NONHSAT068156
11	lnc-AC004696.1-1	chr19:56988972-56989294	ENSG00000166770.6
12	lnc-AC004696.1-1	chr19:56988619-56990056	ENSG00000166770.6

Variant related genes	Relation type
ZNF667	TF binding region
ZNF667-AS1	TF binding region
ZNF667	CpG island
ZNF667-AS1	CpG island

Extended variants
information (count: 107 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185180597	chr19:56987569-56987570	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs553213486	chr19:56987584-56987585	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs190338373	chr19:56987636-56987637	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs181095975	chr19:56987710-56987711	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs146278852	chr19:56987731-56987732	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs575704298	chr19:56987744-56987745	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs111809241	chr19:56987798-56987799	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs148070150	chr19:56987857-56987858	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs77191078	chr19:56987860-56987861	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs573784945	chr19:56987874-56987875	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs371183494	chr19:56987900-56987901	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs186138896	chr19:56987961-56987962	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs559199793	chr19:56987990-56987991	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs528148939	chr19:56988030-56988031	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs118102888	chr19:56988038-56988039	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs8109617	chr19:56988039-56988040	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs113193073	chr19:56988049-56988050	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs368855178	chr19:56988064-56988065	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs530407880	chr19:56988105-56988106	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs372142150	chr19:56988121-56988122	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs191759643	chr19:56988147-56988148	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs200995937	chr19:56988154-56988155	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs547131545	chr19:56988171-56988172	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs78377207	chr19:56988194-56988195	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs566855084	chr19:56988243-56988244	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
26	rs539182391	chr19:56988285-56988286	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs559083028	chr19:56988301-56988302	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs569309310	chr19:56988368-56988369	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs538221940	chr19:56988380-56988381	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs371958016	chr19:56988393-56988394	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs556996769	chr19:56988429-56988430	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
32	rs141724129	chr19:56988435-56988436	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
33	rs558693245	chr19:56988449-56988450	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs553087975	chr19:56988455-56988456	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs572952346	chr19:56988475-56988476	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs367568779	chr19:56988485-56988486	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs564614606	chr19:56988532-56988533	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs530444106	chr19:56988543-56988544	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs543769186	chr19:56988556-56988557	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs552218808	chr19:56988632-56988633	Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs561430070	chr19:56988643-56988644	Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs530371892	chr19:56988679-56988680	Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs371706543	chr19:56988741-56988742	Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs567092643	chr19:56988750-56988751	Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs113552757	chr19:56988755-56988756	Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs532735445	chr19:56988796-56988797	Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs552733899	chr19:56988813-56988814	Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs376114743	chr19:56988814-56988815	Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs569346998	chr19:56988839-56988840	Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs538258812	chr19:56988849-56988850	Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:327 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56967200-56987600	Weak transcription	Fetal Heart	heart
2	chr19:56969400-56987600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:56972800-56987600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr19:56981000-56987600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
5	chr19:56981000-56988000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
6	chr19:56981400-56987600	ZNF genes & repeats	Ovary	ovary
7	chr19:56982000-56987600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:56983000-56988000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:56983200-56987800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr19:56983800-56987600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr19:56983800-56987600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr19:56984000-56988000	Weak transcription	Left Ventricle	heart
13	chr19:56984200-56987600	Weak transcription	HSMMtube	muscle
14	chr19:56984400-56987600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr19:56984400-56987600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr19:56984600-56988000	Weak transcription	Psoas Muscle	Psoas
17	chr19:56984800-56987600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr19:56984800-56987800	Weak transcription	Fetal Kidney	kidney
19	chr19:56984800-56988000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:56985400-56987600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr19:56985400-56990400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr19:56985400-56991400	ZNF genes & repeats	Liver	Liver
23	chr19:56985600-56987600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr19:56986000-56987600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr19:56986000-56988000	Weak transcription	Right Atrium	heart
26	chr19:56986400-56987600	Weak transcription	Primary T cells from cord blood	blood
27	chr19:56986800-56987600	Enhancers	Fetal Brain Male	brain
28	chr19:56986800-56988000	Enhancers	Right Ventricle	heart
29	chr19:56987000-56987800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:56987000-56990000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr19:56987000-56990400	ZNF genes & repeats	Gastric	stomach
32	chr19:56987200-56987600	Active TSS	Brain Angular Gyrus	brain
33	chr19:56987200-56987600	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr19:56987200-56988000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr19:56987400-56987600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr19:56987400-56987600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr19:56987400-56987600	Active TSS	Muscle Satellite Cultured Cells	--
38	chr19:56987400-56987600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr19:56987400-56987600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr19:56987400-56987600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr19:56987400-56987600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr19:56987400-56987600	Active TSS	Fetal Brain Female	brain
43	chr19:56987400-56987600	Enhancers	Fetal Lung	lung
44	chr19:56987400-56987800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr19:56987400-56987800	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr19:56987400-56987800	Enhancers	Fetal Muscle Trunk	muscle
47	chr19:56987400-56987800	Enhancers	Fetal Stomach	stomach
48	chr19:56987400-56988000	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr19:56987400-56988000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr19:56987400-56988000	ZNF genes & repeats	Fetal Thymus	thymus

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