Variant report

Variant	esv21001
Chromosome Location	chr19:38826488-38827974
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:625)
CpG islands
(count:305)
Chromatin interactive
region (count:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:625 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:38827182-38827382	K562	blood:	n/a	n/a
2	ARID3A	chr19:38826204-38826503	HepG2	liver:	n/a	n/a
3	ARID3A	chr19:38826196-38826497	K562	blood:	n/a	n/a
4	ATF1	chr19:38826155-38826571	K562	blood:	n/a	n/a
5	ATF2	chr19:38826060-38826493	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr19:38826179-38826566	A549	lung:	n/a	chr19:38826312-38826321 chr19:38826358-38826372
7	ATF3	chr19:38826070-38827568	A549	lung:	n/a	chr19:38826312-38826321 chr19:38826358-38826372
8	ATF3	chr19:38826139-38826521	K562	blood:	n/a	chr19:38826312-38826321 chr19:38826358-38826372
9	BACH1	chr19:38827293-38827543	K562	blood:	n/a	n/a
10	BACH1	chr19:38826257-38826510	K562	blood:	n/a	n/a
11	BACH1	chr19:38826254-38828128	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL3	chr19:38826097-38827124	A549	lung:	n/a	chr19:38826551-38826560
13	BCL3	chr19:38826069-38828061	A549	lung:	n/a	chr19:38826551-38826560
14	BCLAF1	chr19:38826074-38826553	GM12878	blood:	n/a	n/a
15	BHLHE40	chr19:38826154-38827777	GM12878	blood:	n/a	chr19:38827084-38827100
16	BHLHE40	chr19:38826202-38827404	HepG2	liver:	n/a	chr19:38827084-38827100
17	BHLHE40	chr19:38826179-38827859	K562	blood:	n/a	chr19:38827084-38827100
18	BRCA1	chr19:38827565-38828013	HepG2	liver:	n/a	n/a
19	BRCA1	chr19:38826206-38826548	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr19:38826843-38827274	GM12878	blood:	n/a	n/a
21	BRCA1	chr19:38826832-38827711	Hela-S3	cervix:	n/a	n/a
22	CBX3	chr19:38826674-38827845	K562	blood:	n/a	n/a
23	CBX3	chr19:38826140-38826596	K562	blood:	n/a	n/a
24	CBX3	chr19:38826204-38826520	K562	blood:	n/a	n/a
25	CCNT2	chr19:38826237-38826549	K562	blood:	n/a	chr19:38826523-38826532
26	CCNT2	chr19:38826892-38828001	K562	blood:	n/a	chr19:38827533-38827542
27	CEBPB	chr19:38827463-38827663	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr19:38826171-38826540	Hela-S3	cervix:	n/a	n/a
29	CHD1	chr19:38826794-38827510	GM12878	blood:	n/a	n/a
30	CHD1	chr19:38826233-38826571	GM12878	blood:	n/a	n/a
31	CHD1	chr19:38826057-38828015	IMR90	lung:	n/a	n/a
32	CHD2	chr19:38827542-38827809	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr19:38826226-38827117	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr19:38826205-38827248	Hela-S3	cervix:	n/a	n/a
35	CHD2	chr19:38827182-38827440	HepG2	liver:	n/a	n/a
36	CHD2	chr19:38826782-38826945	HepG2	liver:	n/a	n/a
37	CHD2	chr19:38826243-38826554	HepG2	liver:	n/a	n/a
38	CHD2	chr19:38826203-38827977	GM12878	blood:	n/a	n/a
39	CHD2	chr19:38827424-38827913	K562	blood:	n/a	n/a
40	CHD2	chr19:38826205-38827206	K562	blood:	n/a	n/a
41	CREB1	chr19:38826857-38827197	A549	lung:	n/a	n/a
42	CREB1	chr19:38826154-38826703	HepG2	liver:	n/a	n/a
43	CREB1	chr19:38826089-38827321	A549	lung:	n/a	n/a
44	CREB1	chr19:38826134-38826732	H1-hESC	embryonic stem cell:	n/a	n/a
45	CREB1	chr19:38826075-38827859	HepG2	liver:	n/a	n/a
46	CREB1	chr19:38826051-38827921	GM12878	blood:	n/a	n/a
47	CREB1	chr19:38826166-38826524	A549	lung:	n/a	n/a
48	CREB1	chr19:38827373-38828107	A549	lung:	n/a	n/a
49	CREB1	chr19:38826087-38826618	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr19:38826169-38826502	Kidney_OC	kidney:	n/a	chr19:38826291-38826309

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:38827331-38827381	AG09309	skin:	n/a
2	chr19:38826477-38826527	BE2_C	brain:	n/a
3	chr19:38827749-38827799	AG09319	gingival:	n/a
4	chr19:38827749-38827799	BE2_C	brain:	n/a
5	chr19:38827331-38827381	BJ	skin:	n/a
6	chr19:38827205-38827255	K562	blood:	n/a
7	chr19:38827331-38827381	NHDF-neo	bronchial:	n/a
8	chr19:38827378-38827428	HEEpiC	esophagus:	n/a
9	chr19:38827205-38827255	HEK293	kidney:	embryo
10	chr19:38827331-38827381	AoSMC	blood vessel:	n/a
11	chr19:38827749-38827799	SKMC	muscle:	n/a
12	chr19:38826477-38826527	ProgFib	skin:	n/a
13	chr19:38826477-38826527	HCT-116	colon:	n/a
14	chr19:38827378-38827428	Hela-S3	cervix:	n/a
15	chr19:38827378-38827428	ECC-1	luminal epithelium:	n/a
16	chr19:38827378-38827428	HEK293	kidney:	embryo
17	chr19:38827749-38827799	HCM	heart:	n/a
18	chr19:38827331-38827381	A549	lung:	n/a
19	chr19:38826477-38826527	MCF10A-Er-Src	breast:	n/a
20	chr19:38827749-38827799	BJ	skin:	n/a
21	chr19:38826477-38826527	HIPEpiC	eye:	n/a
22	chr19:38827378-38827428	HMEC	breast:	n/a
23	chr19:38827378-38827428	NB4	blood:	n/a
24	chr19:38827205-38827255	AG09319	gingival:	n/a
25	chr19:38827378-38827428	SAEC	small airway:	n/a
26	chr19:38827205-38827255	HMEC	breast:	n/a
27	chr19:38827331-38827381	NH-A	brain:	n/a
28	chr19:38827378-38827428	SK-N-SH	brain:	n/a
29	chr19:38827749-38827799	HRPEpiC	eye:	n/a
30	chr19:38827378-38827428	HCF	heart:	n/a
31	chr19:38827749-38827799	Jurkat	blood:	n/a
32	chr19:38826477-38826527	NB4	blood:	n/a
33	chr19:38827749-38827799	CMK	blood:	n/a
34	chr19:38827378-38827428	A549	lung:	n/a
35	chr19:38827331-38827381	ProgFib	skin:	n/a
36	chr19:38826477-38826527	HRE	kidney:	n/a
37	chr19:38827205-38827255	HCT-116	colon:	n/a
38	chr19:38826477-38826527	HAEpiC	amniotic membrane:	n/a
39	chr19:38827378-38827428	Hepatocyte	liver:	n/a
40	chr19:38827331-38827381	HMEC	breast:	n/a
41	chr19:38827205-38827255	GM06990	blood:	n/a
42	chr19:38827749-38827799	GM19239	blood:	n/a
43	chr19:38827378-38827428	T-47D	breast:	n/a
44	chr19:38827749-38827799	A549	lung:	n/a
45	chr19:38827205-38827255	AG04450	lung:	fetal
46	chr19:38826477-38826527	HEK293	kidney:	embryo
47	chr19:38827378-38827428	ovcar-3	ovarian:	n/a
48	chr19:38827331-38827381	SK-N-SH_RA	brain:	n/a
49	chr19:38827378-38827428	HL-60	blood:	n/a
50	chr19:38827331-38827381	HPAEpiC	pulmonary alveolar:	n/a

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:38826520..38827474-chr7:66146585..66147505,2	Hela-S3	cervix:
2	chr19:38825004..38828693-chr19:38863595..38867873,9	K562	blood:
3	chr19:38733321..38734847-chr19:38824832..38827411,2	MCF-7	breast:
4	chr19:38827274..38829284-chr19:38833779..38835815,2	MCF-7	breast:
5	chr19:38777648..38780643-chr19:38825334..38827865,2	K562	blood:
6	chr19:38826489..38830578-chr19:38835148..38838719,4	K562	blood:
7	chr19:38825745..38829204-chr19:38906597..38909224,3	K562	blood:
8	chr19:38826255..38829380-chr19:38850634..38854376,3	MCF-7	breast:
9	chr19:38733984..38735573-chr19:38825634..38828607,2	K562	blood:
10	chr19:38825537..38827989-chr19:38835886..38838412,2	K562	blood:
11	chr19:38825387..38828116-chr19:38877119..38879831,3	MCF-7	breast:
12	chr19:38826901..38827604-chr19:38865042..38865625,2	Hela-S3	cervix:
13	chr19:38824766..38830853-chr19:38863348..38868089,16	MCF-7	breast:
14	chr19:38733182..38735640-chr19:38825420..38827758,3	K562	blood:
15	chr19:38715608..38719883-chr19:38825304..38828918,6	K562	blood:
16	chr19:38806332..38809400-chr19:38825014..38828541,5	K562	blood:
17	chr19:38793982..38798570-chr19:38826004..38829304,4	K562	blood:
18	chr19:38826223..38828930-chr19:38842574..38845020,2	MCF-7	breast:
19	chr19:38753791..38756428-chr19:38824915..38829046,7	MCF-7	breast:
20	chr19:38712277..38715341-chr19:38824721..38827828,3	K562	blood:
21	chr19:38741131..38744022-chr19:38825237..38827049,2	K562	blood:
22	chr19:38793475..38795482-chr19:38826442..38828638,2	K562	blood:
23	chr19:38826766..38829028-chr19:38851929..38854753,2	K562	blood:
24	chr19:38810007..38812286-chr19:38825422..38828123,4	MCF-7	breast:
25	chr19:38804679..38808674-chr19:38824887..38827856,7	K562	blood:
26	chr19:38746246..38748291-chr19:38825736..38828521,3	K562	blood:
27	chr19:38824024..38830842-chr19:38863522..38868048,10	MCF-7	breast:
28	chr19:38824957..38829265-chr19:38874295..38879043,8	MCF-7	breast:
29	chr19:38791989..38796796-chr19:38825093..38829391,7	MCF-7	breast:
30	chr19:38745286..38748830-chr19:38824490..38828580,5	K562	blood:
31	chr19:38825542..38827860-chr19:38892803..38895034,2	K562	blood:
32	chr19:38826968..38827628-chr19:38864752..38865615,2	K562	blood:
33	chr19:38823410..38828693-chr19:38863569..38867873,9	K562	blood:

No data

Variant related genes	Relation type
CATSPERG	TF binding region
CATSPERG	CpG island
ENSG00000099337	chromatin interactions
ENSG00000167644	chromatin interactions
ENSG00000188766	chromatin interactions
ENSG00000267090	chromatin interactions
ENSG00000099338	chromatin interactions
ENSG00000179168	chromatin interactions
ENSG00000171777	chromatin interactions
ENSG00000267748	chromatin interactions
ENSG00000266963	chromatin interactions
ENSG00000130244	chromatin interactions
ENSG00000011332	chromatin interactions
ENSG00000167645	chromatin interactions
ENSG00000099341	chromatin interactions
ENSG00000167642	chromatin interactions
ENSG00000167641	chromatin interactions
ENSG00000154710	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12609114	chr19:38826523-38826524	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537209805	chr19:38826558-38826559	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
3	rs189528304	chr19:38826596-38826597	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
4	rs565355501	chr19:38826626-38826627	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
5	rs59898212	chr19:38826656-38826657	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs561590098	chr19:38826660-38826661	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
7	rs531988604	chr19:38826671-38826672	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
8	rs549919566	chr19:38826733-38826734	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
9	rs142381436	chr19:38826769-38826770	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
10	rs146047528	chr19:38826828-38826829	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
11	rs74821786	chr19:38826830-38826831	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
12	rs547845682	chr19:38826887-38826888	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
13	rs566361741	chr19:38826903-38826904	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
14	rs56849284	chr19:38826947-38826948	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs112867468	chr19:38827049-38827050	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
16	rs368610487	chr19:38827050-38827051	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
17	rs548888944	chr19:38827055-38827056	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
18	rs555114653	chr19:38827063-38827064	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
19	rs573601354	chr19:38827096-38827097	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
20	rs138816936	chr19:38827115-38827116	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
21	rs555925110	chr19:38827143-38827144	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
22	rs577545542	chr19:38827181-38827182	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
23	rs544812213	chr19:38827204-38827205	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
24	rs118050776	chr19:38827220-38827221	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
25	rs149332914	chr19:38827227-38827228	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
26	rs181516851	chr19:38827319-38827320	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
27	rs144589595	chr19:38827350-38827351	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
28	rs11672793	chr19:38827357-38827358	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs550447724	chr19:38827379-38827380	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
30	rs377715635	chr19:38827388-38827389	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
31	rs186984475	chr19:38827416-38827417	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
32	rs547350402	chr19:38827426-38827427	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
33	rs73043012	chr19:38827452-38827453	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs72358859	chr19:38827480-38827481	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
35	rs530089241	chr19:38827483-38827484	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
36	rs376843227	chr19:38827485-38827486	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
37	rs548774805	chr19:38827490-38827491	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
38	rs12460599	chr19:38827495-38827496	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs370956957	chr19:38827516-38827517	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
40	rs537796020	chr19:38827563-38827564	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
41	rs550554532	chr19:38827565-38827566	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
42	rs73043013	chr19:38827568-38827569	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs536189463	chr19:38827572-38827573	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
44	rs189417909	chr19:38827603-38827604	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
45	rs553756315	chr19:38827628-38827629	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
46	rs118054998	chr19:38827630-38827631	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
47	rs181291369	chr19:38827644-38827645	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
48	rs371382747	chr19:38827645-38827646	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
49	rs555251076	chr19:38827646-38827647	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
50	rs374765066	chr19:38827655-38827656	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	16 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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	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
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:301 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38811200-38826600	Weak transcription	Brain Substantia Nigra	brain
2	chr19:38812000-38826600	Weak transcription	HUVEC	blood vessel
3	chr19:38812200-38826600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:38813200-38826800	Weak transcription	Fetal Heart	heart
5	chr19:38818000-38826600	Weak transcription	Small Intestine	intestine
6	chr19:38818200-38826600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr19:38818400-38826600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr19:38818600-38826600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr19:38818800-38826600	Weak transcription	Fetal Lung	lung
10	chr19:38819000-38826600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr19:38819000-38826600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr19:38819000-38826600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr19:38819200-38826600	Weak transcription	Primary T cells from cord blood	blood
14	chr19:38819200-38826600	Weak transcription	Liver	Liver
15	chr19:38819200-38826600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr19:38819400-38826600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr19:38819400-38826600	Weak transcription	Pancreas	Pancrea
18	chr19:38819400-38826600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr19:38819400-38826600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr19:38819400-38826600	Weak transcription	Spleen	Spleen
21	chr19:38819400-38826600	Weak transcription	HSMMtube	muscle
22	chr19:38819600-38826600	Weak transcription	K562	blood
23	chr19:38820400-38826600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr19:38820400-38826600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr19:38820600-38826600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr19:38820600-38826600	Weak transcription	Esophagus	oesophagus
27	chr19:38820600-38826600	Weak transcription	Gastric	stomach
28	chr19:38820600-38826600	Weak transcription	Lung	lung
29	chr19:38820600-38826600	Weak transcription	NHLF	lung
30	chr19:38822800-38826600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr19:38825600-38827800	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr19:38825800-38826600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:38825800-38827800	Active TSS	Osteobl	bone
34	chr19:38826000-38827200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:38826000-38827200	Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr19:38826000-38827200	Active TSS	Stomach Smooth Muscle	stomach
37	chr19:38826000-38827800	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr19:38826000-38827800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr19:38826000-38827800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr19:38826000-38827800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr19:38826000-38827800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr19:38826000-38828000	Active TSS	H9 Cell Line	embryonic stem cell
43	chr19:38826000-38828000	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr19:38826000-38828000	Active TSS	Fetal Brain Female	brain
45	chr19:38826000-38828200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr19:38826000-38828200	Active TSS	HSMM	muscle
47	chr19:38826200-38826600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr19:38826200-38826600	Active TSS	Fetal Muscle Trunk	muscle
49	chr19:38826200-38826600	Weak transcription	Placenta	Placenta
50	chr19:38826200-38826800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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