Variant report

Variant	esv2763208
Chromosome Location	chr19:51361757-51377163
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	ARID3A	chr19:51373717-51374068	K562	blood:	n/a	n/a
2	ATF1	chr19:51373622-51374098	K562	blood:	n/a	n/a
3	ATF3	chr19:51373673-51374060	K562	blood:	n/a	chr19:51373842-51373849 chr19:51373842-51373852 chr19:51373838-51373853 chr19:51373830-51373850 chr19:51373841-51373861 chr19:51373841-51373849 chr19:51373839-51373849 chr19:51373842-51373850 chr19:51373838-51373851 chr19:51373839-51373852 chr19:51373839-51373849
4	ATF3	chr19:51373692-51374085	GM12878	blood:	n/a	chr19:51373842-51373849 chr19:51373842-51373852 chr19:51373838-51373853 chr19:51373830-51373850 chr19:51373841-51373861 chr19:51373841-51373849 chr19:51373839-51373849 chr19:51373842-51373850 chr19:51373838-51373851 chr19:51373839-51373852 chr19:51373839-51373849
5	ATF3	chr19:51373702-51374080	K562	blood:	n/a	chr19:51373842-51373849 chr19:51373842-51373852 chr19:51373838-51373853 chr19:51373830-51373850 chr19:51373841-51373861 chr19:51373841-51373849 chr19:51373839-51373849 chr19:51373842-51373850 chr19:51373838-51373851 chr19:51373839-51373852 chr19:51373839-51373849
6	BHLHE40	chr19:51373675-51374075	K562	blood:	n/a	n/a
7	CBX3	chr19:51373612-51374099	K562	blood:	n/a	n/a
8	CBX3	chr19:51373255-51374198	K562	blood:	n/a	n/a
9	CEBPB	chr19:51373653-51374084	K562	blood:	n/a	n/a
10	CEBPB	chr19:51370561-51370585	HepG2	liver:	n/a	chr19:51370570-51370581
11	CEBPB	chr19:51373735-51374010	K562	blood:	n/a	n/a
12	CEBPB	chr19:51370496-51370601	A549	lung:	n/a	chr19:51370570-51370581
13	CHD2	chr19:51373816-51373916	K562	blood:	n/a	n/a
14	CHD2	chr19:51369850-51370143	K562	blood:	n/a	n/a
15	CREB1	chr19:51373521-51374108	HepG2	liver:	n/a	chr19:51373839-51373852
16	CREB1	chr19:51373645-51374151	HepG2	liver:	n/a	chr19:51373839-51373852
17	CREB1	chr19:51373646-51374066	A549	lung:	n/a	chr19:51373839-51373852
18	CREB1	chr19:51373611-51374186	GM12878	blood:	n/a	chr19:51373839-51373852
19	CREB1	chr19:51373534-51374164	GM12878	blood:	n/a	chr19:51373839-51373852
20	CREB1	chr19:51373636-51374085	ECC-1	luminal epithelium:	n/a	chr19:51373839-51373852
21	CREB1	chr19:51373429-51374296	K562	blood:	n/a	chr19:51373839-51373852
22	CREB1	chr19:51373593-51374052	H1-hESC	embryonic stem cell:	n/a	chr19:51373839-51373852
23	CREB1	chr19:51373669-51374134	A549	lung:	n/a	chr19:51373839-51373852
24	CREB1	chr19:51373491-51374199	K562	blood:	n/a	chr19:51373839-51373852
25	CREB1	chr19:51373611-51374070	H1-hESC	embryonic stem cell:	n/a	chr19:51373839-51373852
26	CTCF	chr19:51373862-51374007	HepG2	liver:	n/a	chr19:51373919-51373928 chr19:51373914-51373930 chr19:51373913-51373931 chr19:51373916-51373926 chr19:51373908-51373929
27	CTCF	chr19:51373524-51374240	SK-N-SH	brain:	n/a	chr19:51373919-51373928 chr19:51373914-51373930 chr19:51373913-51373931 chr19:51373728-51373744 chr19:51373916-51373926 chr19:51373908-51373929
28	CTCF	chr19:51373718-51374126	K562	blood:	n/a	chr19:51373919-51373928 chr19:51373914-51373930 chr19:51373913-51373931 chr19:51373728-51373744 chr19:51373916-51373926 chr19:51373908-51373929
29	CTCF	chr19:51373844-51374010	Gliobla	brain:	n/a	chr19:51373919-51373928 chr19:51373914-51373930 chr19:51373913-51373931 chr19:51373916-51373926 chr19:51373908-51373929
30	CTCF	chr19:51373819-51374006	GM12892	blood:	n/a	chr19:51373919-51373928 chr19:51373914-51373930 chr19:51373913-51373931 chr19:51373916-51373926 chr19:51373908-51373929
31	CTCF	chr19:51373893-51373938	HUVEC	blood vessel:	n/a	chr19:51373919-51373928 chr19:51373914-51373930 chr19:51373913-51373931 chr19:51373916-51373926 chr19:51373908-51373929
32	CTCF	chr19:51373880-51374030	HPAF	blood vessel:	n/a	chr19:51373919-51373928 chr19:51373914-51373930 chr19:51373913-51373931 chr19:51373916-51373926 chr19:51373908-51373929
33	CTCF	chr19:51373883-51373967	GM13977	blood:	n/a	chr19:51373919-51373928 chr19:51373914-51373930 chr19:51373913-51373931 chr19:51373916-51373926 chr19:51373908-51373929
34	CTCF	chr19:51373907-51373978	ProgFib	skin:	n/a	chr19:51373919-51373928 chr19:51373914-51373930 chr19:51373913-51373931 chr19:51373916-51373926 chr19:51373908-51373929
35	CTCF	chr19:51373800-51373950	WERI-Rb-1	eye:	n/a	chr19:51373919-51373928 chr19:51373914-51373930 chr19:51373913-51373931 chr19:51373916-51373926 chr19:51373908-51373929
36	CTCF	chr19:51362311-51362594	MCF-7	breast:	n/a	n/a
37	CTCF	chr19:51373900-51374050	HCFaa	heart:	n/a	chr19:51373919-51373928 chr19:51373914-51373930 chr19:51373913-51373931 chr19:51373916-51373926 chr19:51373908-51373929
38	CTCF	chr19:51373684-51374225	K562	blood:	n/a	chr19:51373919-51373928 chr19:51373914-51373930 chr19:51373913-51373931 chr19:51373728-51373744 chr19:51373916-51373926 chr19:51373908-51373929
39	CTCF	chr19:51373900-51374050	HMF	breast:	n/a	chr19:51373919-51373928 chr19:51373914-51373930 chr19:51373913-51373931 chr19:51373916-51373926 chr19:51373908-51373929
40	CTCF	chr19:51373772-51374074	K562	blood:	n/a	chr19:51373919-51373928 chr19:51373914-51373930 chr19:51373913-51373931 chr19:51373916-51373926 chr19:51373908-51373929
41	CTCF	chr19:51373860-51374010	GM12875	blood:	n/a	chr19:51373919-51373928 chr19:51373914-51373930 chr19:51373913-51373931 chr19:51373916-51373926 chr19:51373908-51373929
42	CTCF	chr19:51373880-51374030	GM12870	blood:	n/a	chr19:51373919-51373928 chr19:51373914-51373930 chr19:51373913-51373931 chr19:51373916-51373926 chr19:51373908-51373929
43	CTCF	chr19:51373900-51374050	GM12871	blood:	n/a	chr19:51373919-51373928 chr19:51373914-51373930 chr19:51373913-51373931 chr19:51373916-51373926 chr19:51373908-51373929
44	CTCF	chr19:51362413-51362597	LNCaP	prostate:	n/a	n/a
45	CTCF	chr19:51373860-51374010	GM12873	blood:	n/a	chr19:51373919-51373928 chr19:51373914-51373930 chr19:51373913-51373931 chr19:51373916-51373926 chr19:51373908-51373929
46	CTCF	chr19:51373840-51373990	SK-N-SH_RA	brain:	n/a	chr19:51373919-51373928 chr19:51373914-51373930 chr19:51373913-51373931 chr19:51373916-51373926 chr19:51373908-51373929
47	CTCF	chr19:51373783-51374051	SK-N-SH_RA	brain:	n/a	chr19:51373919-51373928 chr19:51373914-51373930 chr19:51373913-51373931 chr19:51373916-51373926 chr19:51373908-51373929
48	CTCF	chr19:51373820-51373970	AG04449	skin:	n/a	chr19:51373919-51373928 chr19:51373914-51373930 chr19:51373913-51373931 chr19:51373916-51373926 chr19:51373908-51373929
49	CTCF	chr19:51362320-51362470	MCF-7	breast:	n/a	n/a
50	CTCF	chr19:51373710-51374037	A549	lung:	n/a	chr19:51373919-51373928 chr19:51373914-51373930 chr19:51373913-51373931 chr19:51373728-51373744 chr19:51373916-51373926 chr19:51373908-51373929

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:51376639-51376689	HRCEpiC	kidney:	n/a
2	chr19:51376639-51376689	HCPEpiC	choroid plexus:	n/a
3	chr19:51376639-51376689	HRCEpiC	kidney:	n/a
4	chr19:51376639-51376689	HCPEpiC	choroid plexus:	n/a
5	chr19:51376711-51376761	PFSK-1	brain:	n/a
6	chr19:51362954-51363004	CMK	blood:	n/a
7	chr19:51376305-51376355	GM19239	blood:	n/a
8	chr19:51375893-51375943	HMEC	breast:	n/a
9	chr19:51375893-51375943	HAEpiC	amniotic membrane:	n/a
10	chr19:51375975-51376025	AG04449	skin:	fetal
11	chr19:51375893-51375943	HCM	heart:	n/a
12	chr19:51376711-51376761	HRE	kidney:	n/a
13	chr19:51376305-51376355	HepG2	liver:	n/a
14	chr19:51375893-51375943	ovcar-3	ovarian:	n/a
15	chr19:51376639-51376689	SAEC	small airway:	n/a
16	chr19:51376711-51376761	GM06990	blood:	n/a
17	chr19:51375975-51376025	HCM	heart:	n/a
18	chr19:51375975-51376025	U87	brain:	n/a
19	chr19:51376639-51376689	SK-N-SH_RA	brain:	n/a
20	chr19:51375975-51376025	SK-N-SH	brain:	n/a
21	chr19:51376711-51376761	HEK293	kidney:	embryo
22	chr19:51375893-51375943	BE2_C	brain:	n/a
23	chr19:51362954-51363004	AG04449	skin:	fetal
24	chr19:51362954-51363004	T-47D	breast:	n/a
25	chr19:51375975-51376025	MCF10A-Er-Src	breast:	n/a
26	chr19:51375975-51376025	NT2-D1	testis:	n/a
27	chr19:51376711-51376761	AG09309	skin:	n/a
28	chr19:51376305-51376355	HRE	kidney:	n/a
29	chr19:51362954-51363004	NH-A	brain:	n/a
30	chr19:51376639-51376689	HAEpiC	amniotic membrane:	n/a
31	chr19:51376305-51376355	NT2-D1	testis:	n/a
32	chr19:51376711-51376761	GM12891	blood:	n/a
33	chr19:51362954-51363004	HCM	heart:	n/a
34	chr19:51376711-51376761	ProgFib	skin:	n/a
35	chr19:51375975-51376025	GM12892	blood:	n/a
36	chr19:51375893-51375943	AG09319	gingival:	n/a
37	chr19:51376711-51376761	K562	blood:	n/a
38	chr19:51376305-51376355	CMK	blood:	n/a
39	chr19:51376305-51376355	RPTEC	kidney:	n/a
40	chr19:51375893-51375943	HIPEpiC	eye:	n/a
41	chr19:51375975-51376025	SK-N-MC	brain:	n/a
42	chr19:51362954-51363004	ECC-1	luminal epithelium:	n/a
43	chr19:51362954-51363004	LNCaP	prostate:	n/a
44	chr19:51376305-51376355	NHBE	bronchial:	n/a
45	chr19:51376711-51376761	ECC-1	luminal epithelium:	n/a
46	chr19:51376711-51376761	HNPCEpiC	eye:	n/a
47	chr19:51376639-51376689	HCM	heart:	n/a
48	chr19:51362954-51363004	HCPEpiC	choroid plexus:	n/a
49	chr19:51375975-51376025	Hela-S3	cervix:	n/a
50	chr19:51362954-51363004	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:51304609..51306966-chr19:51367482..51368992,2	K562	blood:
2	chr19:51321017..51323255-chr19:51371295..51373304,2	K562	blood:
3	chr19:51296075..51301998-chr19:51356744..51362542,6	K562	blood:
4	chr19:51372696..51375845-chr19:51379331..51383690,4	K562	blood:
5	chr19:51368140..51370894-chr19:51374787..51377446,2	K562	blood:
6	chr19:51297446..51299225-chr19:51366827..51368327,2	K562	blood:
7	chr19:51306397..51308318-chr19:51369356..51371839,3	K562	blood:
8	chr19:51306448..51310717-chr19:51372415..51375235,4	K562	blood:
9	chr19:51297152..51303261-chr19:51371696..51377038,8	K562	blood:
10	chr19:51296429..51299323-chr19:51371370..51374659,5	K562	blood:
11	chr19:51357036..51359408-chr19:51369066..51370835,2	K562	blood:
12	chr19:51367668..51370894-chr19:51374787..51378552,5	K562	blood:
13	chr19:51304876..51308314-chr19:51372660..51375800,4	MCF-7	breast:
14	chr19:51335920..51338243-chr19:51361874..51364781,2	K562	blood:
15	chr19:51292849..51296626-chr19:51372637..51375537,3	K562	blood:
16	chr19:51303704..51305752-chr19:51372094..51375734,4	K562	blood:
17	chr19:51373828..51375364-chr19:51376061..51378763,2	K562	blood:
18	chr19:51357627..51359895-chr19:51362884..51364661,2	K562	blood:
19	chr19:51373828..51375364-chr19:51376061..51378763,2	K562	blood:
20	chr19:51303704..51306185-chr19:51373080..51375734,4	K562	blood:
21	chr19:51374203..51378024-chr19:51378917..51381093,3	MCF-7	breast:
22	chr19:51339489..51342221-chr19:51372439..51375548,3	K562	blood:
23	chr19:51306202..51308468-chr19:51372838..51375377,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLK4-2	chr19:51374583-51374634	l_1707_chr19:51368933-51375786_hela
2	lnc-KLK4-2	chr19:51368934-51369149	l_1707_chr19:51368933-51375786_hela
3	lnc-KLK2-1	chr19:51376689-51376775	NONHSAT067387
4	lnc-KLK3-2	chr19:51363767-51364031	NONHSAT067383
5	lnc-KLK4-2	chr19:51375702-51375786	l_1707_chr19:51368933-51375786_hela

Variant related genes	Relation type
KLK2	TF binding region
KLK2	CpG island
ENSG00000268375	chromatin interactions
ENSG00000142515	chromatin interactions
ENSG00000220988	chromatin interactions
ENSG00000221241	chromatin interactions
ENSG00000174562	chromatin interactions
ENSG00000167747	chromatin interactions
ENSG00000221381	chromatin interactions
ENSG00000142513	chromatin interactions
ENSG00000180279	chromatin interactions
ENSG00000167751	chromatin interactions
ENSG00000267880	chromatin interactions

Extended variants
information (count: 648 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:648 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17632542	chr19:51361757-51361758	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease
2	rs372148450	chr19:51361767-51361768	Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs150769385	chr19:51361768-51361769	Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs554107787	chr19:51361775-51361776	Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs376510386	chr19:51361776-51361777	Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs572619039	chr19:51361788-51361789	Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs376934756	chr19:51361795-51361796	Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs139172057	chr19:51361809-51361810	Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs1803129	chr19:51361821-51361822	Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs546294568	chr19:51361822-51361823	Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs370658603	chr19:51361824-51361825	Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs187449592	chr19:51361826-51361827	Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs191588971	chr19:51361827-51361828	Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs146528783	chr19:51361829-51361830	Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs61729813	chr19:51361850-51361851	Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs562766163	chr19:51361860-51361861	Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs201047135	chr19:51361878-51361879	Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs111901464	chr19:51361879-51361880	Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs146258393	chr19:51361896-51361897	Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs574463961	chr19:51361897-51361898	Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs115684571	chr19:51361900-51361901	Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs369129680	chr19:51361910-51361911	Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs61155209	chr19:51361918-51361919	Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs266875	chr19:51361937-51361938	Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs537446280	chr19:51361946-51361947	Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs549395279	chr19:51361949-51361950	Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs568722732	chr19:51361959-51361960	Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs535742056	chr19:51361968-51361969	Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs144992202	chr19:51361977-51361978	Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs34750956	chr19:51361996-51361997	Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs540044849	chr19:51362000-51362001	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs200214438	chr19:51362025-51362026	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs558270687	chr19:51362026-51362027	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs576655636	chr19:51362065-51362066	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs527909366	chr19:51362077-51362078	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs149172274	chr19:51362084-51362085	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs561972778	chr19:51362118-51362119	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs182679925	chr19:51362124-51362125	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs541729980	chr19:51362132-51362133	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs560406069	chr19:51362173-51362174	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs142342538	chr19:51362202-51362203	Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs545641622	chr19:51362245-51362246	Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs78779935	chr19:51362251-51362252	Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs531342101	chr19:51362298-51362299	Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs11084034	chr19:51362304-51362305	Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs151258801	chr19:51362305-51362306	Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs79435423	chr19:51362325-51362326	Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs377466753	chr19:51362326-51362327	Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs566400170	chr19:51362351-51362352	Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs540034215	chr19:51362388-51362389	Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Adenoid cystic carcinoma	18698036	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
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
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	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
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Adrenocortical carcinoma	18281524	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51360600-51362800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:51360600-51363000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:51361000-51362000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
4	chr19:51361400-51362800	Enhancers	Pancreas	Pancrea
5	chr19:51361400-51364800	Enhancers	Esophagus	oesophagus
6	chr19:51361600-51363000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr19:51361800-51362000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
8	chr19:51361800-51362600	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr19:51362000-51362200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
10	chr19:51362000-51362200	Bivalent Enhancer	Fetal Intestine Large	intestine
11	chr19:51362000-51362800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
12	chr19:51362200-51362400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
13	chr19:51362400-51362600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
14	chr19:51362600-51363000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr19:51362800-51364400	Weak transcription	Pancreas	Pancrea
16	chr19:51364400-51364600	ZNF genes & repeats	Pancreas	Pancrea
17	chr19:51364600-51364800	Weak transcription	Pancreas	Pancrea
18	chr19:51364600-51365000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr19:51372600-51373000	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr19:51373200-51374200	Bivalent/Poised TSS	A549	lung
21	chr19:51373400-51374200	Bivalent/Poised TSS	HepG2	liver
22	chr19:51373400-51374400	Flanking Active TSS	K562	blood
23	chr19:51373600-51374200	Enhancers	Placenta	Placenta
24	chr19:51376400-51376600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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