Variant report

Variant	nsv911233
Chromosome Location	chr19:18061639-18083619
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:281)
CpG islands
(count:671)
Chromatin interactive
region (count:36)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:281 , 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	ARID3A	chr19:18080759-18081106	K562	blood:	n/a	n/a
2	ATF1	chr19:18064783-18065073	K562	blood:	n/a	n/a
3	ATF1	chr19:18080804-18081177	K562	blood:	n/a	n/a
4	BACH1	chr19:18080611-18080993	K562	blood:	n/a	n/a
5	BACH1	chr19:18060643-18062459	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr19:18062343-18062552	GM12878	blood:	n/a	n/a
7	BHLHE40	chr19:18061097-18061823	GM12878	blood:	n/a	n/a
8	BHLHE40	chr19:18080784-18081107	K562	blood:	n/a	n/a
9	CBX3	chr19:18080534-18081143	K562	blood:	n/a	n/a
10	CBX3	chr19:18064575-18065076	K562	blood:	n/a	n/a
11	CBX3	chr19:18080681-18081044	K562	blood:	n/a	n/a
12	CCNT2	chr19:18064855-18064905	K562	blood:	n/a	n/a
13	CCNT2	chr19:18080887-18081085	K562	blood:	n/a	n/a
14	CEBPB	chr19:18069333-18069359	K562	blood:	n/a	n/a
15	CEBPB	chr19:18064708-18064934	K562	blood:	n/a	n/a
16	CEBPB	chr19:18069312-18069426	IMR90	lung:	n/a	n/a
17	CHD1	chr19:18062348-18062506	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD1	chr19:18062342-18062681	GM12878	blood:	n/a	n/a
19	CHD2	chr19:18080763-18081018	K562	blood:	n/a	n/a
20	CHD2	chr19:18062210-18062660	GM12878	blood:	n/a	n/a
21	CHD2	chr19:18063388-18063595	GM12878	blood:	n/a	n/a
22	CHD2	chr19:18061069-18061714	GM12878	blood:	n/a	n/a
23	CTBP2	chr19:18060609-18061834	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr19:18079300-18079450	GM06990	blood:	n/a	n/a
25	CTCF	chr19:18075420-18075570	HepG2	liver:	n/a	chr19:18075526-18075539 chr19:18075523-18075541 chr19:18075526-18075534 chr19:18075525-18075546
26	CTCF	chr19:18075485-18075557	MCF-7	breast:	n/a	chr19:18075526-18075539 chr19:18075523-18075541 chr19:18075526-18075534 chr19:18075525-18075546
27	CTCF	chr19:18063096-18063170	GM13977	blood:	n/a	n/a
28	CTCF	chr19:18063156-18063179	GM12878	blood:	n/a	n/a
29	CTCF	chr19:18075492-18075592	MCF-7	breast:	n/a	chr19:18075526-18075539 chr19:18075523-18075541 chr19:18075526-18075534 chr19:18075525-18075546
30	CTCF	chr19:18075420-18075570	HCPEpiC	choroid plexus:	n/a	chr19:18075526-18075539 chr19:18075523-18075541 chr19:18075526-18075534 chr19:18075525-18075546
31	CTCF	chr19:18071480-18071630	GM12873	blood:	n/a	n/a
32	CTCF	chr19:18063080-18063230	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr19:18075491-18075567	GM12892	blood:	n/a	chr19:18075526-18075539 chr19:18075523-18075541 chr19:18075526-18075534 chr19:18075525-18075546
34	CTCF	chr19:18075473-18075607	GM12891	blood:	n/a	chr19:18075526-18075539 chr19:18075523-18075541 chr19:18075526-18075534 chr19:18075525-18075546
35	CUX1	chr19:18080787-18080978	K562	blood:	n/a	n/a
36	CUX1	chr19:18062365-18062530	GM12878	blood:	n/a	n/a
37	E2F6	chr19:18077467-18077924	H1-hESC	embryonic stem cell:	n/a	chr19:18077860-18077869 chr19:18077692-18077701
38	E2F6	chr19:18080709-18081057	K562	blood:	n/a	n/a
39	E2F6	chr19:18080659-18081085	K562	blood:	n/a	n/a
40	E2F6	chr19:18080713-18081074	K562	blood:	n/a	n/a
41	EBF1	chr19:18062231-18062708	GM12878	blood:	n/a	n/a
42	EBF1	chr19:18062185-18062610	GM12878	blood:	n/a	n/a
43	EBF1	chr19:18059974-18061771	GM12878	blood:	n/a	chr19:18060647-18060657 chr19:18061586-18061595 chr19:18060646-18060657 chr19:18061586-18061595
44	EBF1	chr19:18063435-18063455	GM12878	blood:	n/a	n/a
45	EGR1	chr19:18077770-18077994	K562	blood:	n/a	chr19:18077948-18077958
46	EGR1	chr19:18064621-18064955	K562	blood:	n/a	n/a
47	EGR1	chr19:18077693-18078077	K562	blood:	n/a	chr19:18077693-18077706 chr19:18077948-18077958
48	ELF1	chr19:18061817-18062977	GM12878	blood:	n/a	n/a
49	ELF1	chr19:18080650-18081042	K562	blood:	n/a	n/a
50	ELF1	chr19:18064672-18065084	K562	blood:	n/a	n/a

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:18077727-18077777	T-47D	breast:	n/a
2	chr19:18077727-18077777	MCF10A-Er-Src	breast:	n/a
3	chr19:18063313-18063363	HRE	kidney:	n/a
4	chr19:18063313-18063363	SK-N-SH_RA	brain:	n/a
5	chr19:18063242-18063292	NHDF-neo	bronchial:	n/a
6	chr19:18081620-18081670	Hela-S3	cervix:	n/a
7	chr19:18077834-18077884	H1-hESC	embryonic stem cell:	embryo
8	chr19:18077834-18077884	AG09319	gingival:	n/a
9	chr19:18077727-18077777	HMEC	breast:	n/a
10	chr19:18063041-18063091	Caco-2	colon:	n/a
11	chr19:18063178-18063228	HL-60	blood:	n/a
12	chr19:18063178-18063228	IMR90	lung:	fetal
13	chr19:18063313-18063363	HepG2	liver:	n/a
14	chr19:18077791-18077841	GM06990	blood:	n/a
15	chr19:18075251-18075301	HAEpiC	amniotic membrane:	n/a
16	chr19:18063041-18063091	CMK	blood:	n/a
17	chr19:18077834-18077884	PrEC	prostate:	n/a
18	chr19:18063242-18063292	Hela-S3	cervix:	n/a
19	chr19:18063313-18063363	Jurkat	blood:	n/a
20	chr19:18063242-18063292	GM19239	blood:	n/a
21	chr19:18063178-18063228	K562	blood:	n/a
22	chr19:18077791-18077841	HRCEpiC	kidney:	n/a
23	chr19:18075251-18075301	NT2-D1	testis:	n/a
24	chr19:18077727-18077777	U87	brain:	n/a
25	chr19:18075251-18075301	SK-N-SH	brain:	n/a
26	chr19:18063178-18063228	NT2-D1	testis:	n/a
27	chr19:18077791-18077841	HPAEpiC	pulmonary alveolar:	n/a
28	chr19:18063242-18063292	HIPEpiC	eye:	n/a
29	chr19:18063041-18063091	HPAEpiC	pulmonary alveolar:	n/a
30	chr19:18078973-18079023	GM06990	blood:	n/a
31	chr19:18077727-18077777	AG10803	skin:	n/a
32	chr19:18063242-18063292	HUVEC	blood vessel:	n/a
33	chr19:18063242-18063292	BJ	skin:	n/a
34	chr19:18063178-18063228	HCF	heart:	n/a
35	chr19:18077791-18077841	HUVEC	blood vessel:	n/a
36	chr19:18063041-18063091	HAEpiC	amniotic membrane:	n/a
37	chr19:18077791-18077841	PFSK-1	brain:	n/a
38	chr19:18077791-18077841	HCF	heart:	n/a
39	chr19:18077727-18077777	HPAEpiC	pulmonary alveolar:	n/a
40	chr19:18081620-18081670	PrEC	prostate:	n/a
41	chr19:18063242-18063292	MCF10A-Er-Src	breast:	n/a
42	chr19:18063242-18063292	GM12891	blood:	n/a
43	chr19:18063762-18063812	AG04450	lung:	fetal
44	chr19:18063762-18063812	HEEpiC	esophagus:	n/a
45	chr19:18081620-18081670	T-47D	breast:	n/a
46	chr19:18077791-18077841	GM19239	blood:	n/a
47	chr19:18063762-18063812	SKMC	muscle:	n/a
48	chr19:18063242-18063292	HEK293	kidney:	embryo
49	chr19:18077791-18077841	HRE	kidney:	n/a
50	chr19:18063313-18063363	IMR90	lung:	fetal

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18083279..18085015-chr19:18096044..18097768,2	K562	blood:
2	chr19:18063771..18065782-chr19:18108055..18109961,2	MCF-7	breast:
3	chr19:18052887..18055484-chr19:18079172..18081041,3	K562	blood:
4	chr19:17969435..17972591-chr19:18056494..18062279,6	K562	blood:
5	chr19:18080070..18081745-chr19:18084699..18086287,2	K562	blood:
6	chr19:18058855..18062679-chr19:18075387..18079032,3	MCF-7	breast:
7	chr19:18052531..18054243-chr19:18083293..18086646,3	K562	blood:
8	chr19:18074215..18077620-chr19:18078489..18082245,4	K562	blood:
9	chr19:18059452..18062098-chr19:18102180..18104149,2	MCF-7	breast:
10	chr19:18055988..18065489-chr19:18073307..18083163,16	K562	blood:
11	chr19:18062281..18064008-chr19:18072975..18075111,2	K562	blood:
12	chr19:18062540..18064652-chr19:18110369..18112055,2	MCF-7	breast:
13	chr19:18057399..18062095-chr19:18108081..18112546,5	K562	blood:
14	chr19:18083279..18085488-chr19:18094397..18097544,3	K562	blood:
15	chr19:18075042..18077654-chr19:18108302..18110498,2	MCF-7	breast:
16	chr19:17969127..17971945-chr19:18063059..18065460,2	K562	blood:
17	chr19:18074213..18076660-chr19:18083467..18086200,2	MCF-7	breast:
18	chr19:17970109..17972099-chr19:18059372..18061707,2	MCF-7	breast:
19	chr19:18075092..18076016-chr19:18107540..18108277,2	MCF-7	breast:
20	chr19:18063624..18065452-chr19:18085492..18088181,2	K562	blood:
21	chr19:18077567..18079811-chr19:18082377..18085090,2	K562	blood:
22	chr19:18079573..18082569-chr19:18112067..18113857,2	K562	blood:
23	chr19:18079287..18080876-chr19:18108150..18111999,3	K562	blood:
24	chr19:18074215..18077620-chr19:18078489..18082245,4	K562	blood:
25	chr19:17982249..17983850-chr19:18081596..18084484,2	K562	blood:
26	chr19:18076276..18077913-chr19:18085096..18087175,2	K562	blood:
27	chr19:18058883..18061817-chr19:18083400..18086380,2	K562	blood:
28	chr19:18064928..18066707-chr19:18077223..18078894,2	MCF-7	breast:
29	chr19:18068202..18071106-chr19:18109309..18111194,2	MCF-7	breast:
30	chr19:18074213..18076660-chr19:18083467..18086200,2	MCF-7	breast:
31	chr19:18055988..18065489-chr19:18073307..18083163,16	K562	blood:
32	chr19:18061398..18062926-chr19:18110709..18112847,2	MCF-7	breast:
33	chr19:18060053..18061688-chr19:18218502..18220719,2	K562	blood:
34	chr19:18077567..18079811-chr19:18082377..18085090,2	K562	blood:
35	chr19:18058883..18061817-chr19:18083400..18086380,2	K562	blood:
36	chr19:18058855..18062679-chr19:18075387..18079032,3	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC124-1	chr19:18063000-18063147	NONHSAT062928
2	lnc-CCDC124-1	chr19:18065370-18065462	NONHSAT062928

No data

Variant related genes	Relation type
RNA5SP468	TF binding region
KCNN1	TF binding region
RNA5SP468	CpG island
KCNN1	CpG island
ENSG00000105642	chromatin interactions
ENSG00000252591	chromatin interactions
ENSG00000105640	chromatin interactions
ENSG00000105643	chromatin interactions
ENSG00000105641	chromatin interactions

Extended variants
information (count: 755 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:755 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12974040	chr19:18061639-18061640	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540446479	chr19:18061689-18061690	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs369058013	chr19:18061694-18061695	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs553779765	chr19:18061747-18061748	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs573976190	chr19:18061751-18061752	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs541799525	chr19:18061754-18061755	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs112030930	chr19:18061771-18061772	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs73526382	chr19:18061803-18061804	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs575354472	chr19:18061864-18061865	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs544041417	chr19:18061933-18061934	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs544394411	chr19:18061937-18061938	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs564188208	chr19:18061978-18061979	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs533096194	chr19:18062004-18062005	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs142078199	chr19:18062019-18062020	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs150712425	chr19:18062186-18062187	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs376868828	chr19:18062252-18062253	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs549414871	chr19:18062306-18062307	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs569504891	chr19:18062308-18062309	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs538064027	chr19:18062323-18062324	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs551592626	chr19:18062351-18062352	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs73024603	chr19:18062399-18062400	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs144048759	chr19:18062439-18062440	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs573960337	chr19:18062503-18062504	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs536604260	chr19:18062507-18062508	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs146440766	chr19:18062518-18062519	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs116982485	chr19:18062537-18062538	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs575463254	chr19:18062576-18062577	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs544503826	chr19:18062592-18062593	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs147782652	chr19:18062608-18062609	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs373027318	chr19:18062610-18062611	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs111997727	chr19:18062626-18062627	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs577900638	chr19:18062639-18062640	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs540337858	chr19:18062650-18062651	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs560144266	chr19:18062695-18062696	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs528902996	chr19:18062732-18062733	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs542574288	chr19:18062734-18062735	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs562328295	chr19:18062756-18062757	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs141374998	chr19:18062802-18062803	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs77882235	chr19:18062809-18062810	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs115813357	chr19:18062853-18062854	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs547578809	chr19:18062858-18062859	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs567724016	chr19:18062907-18062908	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs552019845	chr19:18062920-18062921	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs536268101	chr19:18062922-18062923	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs149823126	chr19:18062923-18062924	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs570046029	chr19:18062935-18062936	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs538180558	chr19:18062979-18062980	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs558041631	chr19:18062986-18062987	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs540393850	chr19:18062996-18062997	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs553600716	chr19:18063015-18063016	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Follicular lymphoma	20505157	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	20179077	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Chordoma	18071362	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Mycobacterial infection	18421352	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Liver carcinoma	19366792	CNVD
Colorectal cancer	19455253	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:690 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18059200-18062200	Enhancers	Fetal Brain Male	brain
2	chr19:18059200-18063800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
3	chr19:18059200-18064400	Enhancers	Pancreas	Pancrea
4	chr19:18059400-18062800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:18059400-18062800	Bivalent Enhancer	Stomach Mucosa	stomach
6	chr19:18059400-18064600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:18059600-18061800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:18059600-18062200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr19:18059600-18064000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr19:18059600-18064200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
11	chr19:18059800-18061800	Bivalent Enhancer	NH-A	brain
12	chr19:18059800-18063200	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr19:18059800-18063600	Bivalent Enhancer	Fetal Intestine Large	intestine
14	chr19:18059800-18063800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr19:18059800-18064000	Bivalent Enhancer	Fetal Thymus	thymus
16	chr19:18059800-18064200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr19:18059800-18064400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr19:18060000-18061800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr19:18060000-18061800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
20	chr19:18060000-18062000	Enhancers	Liver	Liver
21	chr19:18060000-18062200	Enhancers	Ovary	ovary
22	chr19:18060000-18062200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
23	chr19:18060000-18063200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
24	chr19:18060000-18063800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
25	chr19:18060000-18063800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr19:18060000-18064200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr19:18060000-18065200	Bivalent Enhancer	Placenta	Placenta
28	chr19:18060400-18063600	Bivalent Enhancer	Brain Anterior Caudate	brain
29	chr19:18060600-18062800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
30	chr19:18060600-18063400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr19:18060800-18061800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
32	chr19:18060800-18061800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr19:18060800-18061800	Bivalent Enhancer	Brain Substantia Nigra	brain
34	chr19:18060800-18062000	Bivalent Enhancer	Brain Angular Gyrus	brain
35	chr19:18060800-18062400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr19:18060800-18062600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
37	chr19:18060800-18062600	Flanking Active TSS	GM12878-XiMat	blood
38	chr19:18060800-18062800	Flanking Active TSS	Brain Germinal Matrix	brain
39	chr19:18060800-18063000	Enhancers	Gastric	stomach
40	chr19:18060800-18063400	Enhancers	Lung	lung
41	chr19:18060800-18063400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
42	chr19:18060800-18063800	Bivalent Enhancer	Fetal Heart	heart
43	chr19:18061000-18062200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr19:18061000-18062200	Bivalent Enhancer	HMEC	breast
45	chr19:18061000-18062600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr19:18061000-18062600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr19:18061000-18062600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
48	chr19:18061000-18062800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
49	chr19:18061000-18062800	Flanking Active TSS	K562	blood
50	chr19:18061000-18063400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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