Variant report

Variant	nsv911231
Chromosome Location	chr19:18059744-18095251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:393)
CpG islands
(count:1709)
Chromatin interactive
region (count:70)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:393 , 50 per page) page: 1 2 3 4 5 6 7 8

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	chr19:18080804-18081177	K562	blood:	n/a	n/a
3	ATF1	chr19:18064783-18065073	K562	blood:	n/a	n/a
4	BACH1	chr19:18060643-18062459	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr19:18060112-18060197	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr19:18080611-18080993	K562	blood:	n/a	n/a
7	BHLHE40	chr19:18080784-18081107	K562	blood:	n/a	n/a
8	BHLHE40	chr19:18062343-18062552	GM12878	blood:	n/a	n/a
9	BHLHE40	chr19:18061097-18061823	GM12878	blood:	n/a	n/a
10	BHLHE40	chr19:18061191-18061620	K562	blood:	n/a	n/a
11	CBX3	chr19:18064575-18065076	K562	blood:	n/a	n/a
12	CBX3	chr19:18080681-18081044	K562	blood:	n/a	n/a
13	CBX3	chr19:18080534-18081143	K562	blood:	n/a	n/a
14	CCNT2	chr19:18061203-18061225	K562	blood:	n/a	n/a
15	CCNT2	chr19:18064855-18064905	K562	blood:	n/a	n/a
16	CCNT2	chr19:18080887-18081085	K562	blood:	n/a	n/a
17	CEBPB	chr19:18069333-18069359	K562	blood:	n/a	n/a
18	CEBPB	chr19:18069312-18069426	IMR90	lung:	n/a	n/a
19	CEBPB	chr19:18090825-18091002	K562	blood:	n/a	n/a
20	CEBPB	chr19:18091999-18092151	K562	blood:	n/a	n/a
21	CEBPB	chr19:18093663-18093881	K562	blood:	n/a	n/a
22	CEBPB	chr19:18064708-18064934	K562	blood:	n/a	n/a
23	CEBPB	chr19:18090879-18091002	Hela-S3	cervix:	n/a	n/a
24	CHD1	chr19:18062348-18062506	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD1	chr19:18062342-18062681	GM12878	blood:	n/a	n/a
26	CHD2	chr19:18080763-18081018	K562	blood:	n/a	n/a
27	CHD2	chr19:18059528-18059809	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr19:18062210-18062660	GM12878	blood:	n/a	n/a
29	CHD2	chr19:18061069-18061714	GM12878	blood:	n/a	n/a
30	CHD2	chr19:18060112-18060122	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr19:18059550-18060229	GM12878	blood:	n/a	n/a
32	CHD2	chr19:18060962-18061320	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr19:18063388-18063595	GM12878	blood:	n/a	n/a
34	CTBP2	chr19:18060609-18061834	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr19:18063096-18063170	GM13977	blood:	n/a	n/a
36	CTCF	chr19:18090340-18090490	GM12873	blood:	n/a	n/a
37	CTCF	chr19:18061358-18061375	GM19239	blood:	n/a	n/a
38	CTCF	chr19:18063156-18063179	GM12878	blood:	n/a	n/a
39	CTCF	chr19:18063080-18063230	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr19:18060820-18060970	GM12874	blood:	n/a	n/a
41	CTCF	chr19:18060620-18060770	GM12873	blood:	n/a	n/a
42	CTCF	chr19:18061489-18061503	GM19239	blood:	n/a	n/a
43	CTCF	chr19:18075491-18075567	GM12892	blood:	n/a	chr19:18075526-18075539 chr19:18075523-18075541 chr19:18075526-18075534 chr19:18075525-18075546
44	CTCF	chr19:18071480-18071630	GM12873	blood:	n/a	n/a
45	CTCF	chr19:18075492-18075592	MCF-7	breast:	n/a	chr19:18075526-18075539 chr19:18075523-18075541 chr19:18075526-18075534 chr19:18075525-18075546
46	CTCF	chr19:18075485-18075557	MCF-7	breast:	n/a	chr19:18075526-18075539 chr19:18075523-18075541 chr19:18075526-18075534 chr19:18075525-18075546
47	CTCF	chr19:18079300-18079450	GM06990	blood:	n/a	n/a
48	CTCF	chr19:18075420-18075570	HepG2	liver:	n/a	chr19:18075526-18075539 chr19:18075523-18075541 chr19:18075526-18075534 chr19:18075525-18075546
49	CTCF	chr19:18075473-18075607	GM12891	blood:	n/a	chr19:18075526-18075539 chr19:18075523-18075541 chr19:18075526-18075534 chr19:18075525-18075546
50	CTCF	chr19:18075420-18075570	HCPEpiC	choroid plexus:	n/a	chr19:18075526-18075539 chr19:18075523-18075541 chr19:18075526-18075534 chr19:18075525-18075546

(count:1709 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:18077834-18077884	T-47D	breast:	n/a
2	chr19:18077834-18077884	T-47D	breast:	n/a
3	chr19:18088495-18088545	NHBE	bronchial:	n/a
4	chr19:18092728-18092778	HMEC	breast:	n/a
5	chr19:18059878-18059928	HRE	kidney:	n/a
6	chr19:18063178-18063228	BE2_C	brain:	n/a
7	chr19:18061472-18061522	LNCaP	prostate:	n/a
8	chr19:18061155-18061205	AoSMC	blood vessel:	n/a
9	chr19:18075251-18075301	Hela-S3	cervix:	n/a
10	chr19:18088495-18088545	RPTEC	kidney:	n/a
11	chr19:18092728-18092778	NHDF-neo	bronchial:	n/a
12	chr19:18078973-18079023	SK-N-MC	brain:	n/a
13	chr19:18084724-18084774	BJ	skin:	n/a
14	chr19:18084724-18084774	GM12878	blood:	n/a
15	chr19:18084986-18085036	HRCEpiC	kidney:	n/a
16	chr19:18077727-18077777	Hela-S3	cervix:	n/a
17	chr19:18063242-18063292	GM06990	blood:	n/a
18	chr19:18077727-18077777	HRCEpiC	kidney:	n/a
19	chr19:18061472-18061522	Jurkat	blood:	n/a
20	chr19:18063242-18063292	NHBE	bronchial:	n/a
21	chr19:18081620-18081670	CMK	blood:	n/a
22	chr19:18061256-18061306	SAEC	small airway:	n/a
23	chr19:18061155-18061205	CMK	blood:	n/a
24	chr19:18060024-18060074	AG04449	skin:	fetal
25	chr19:18061256-18061306	AoSMC	blood vessel:	n/a
26	chr19:18077727-18077777	SAEC	small airway:	n/a
27	chr19:18092781-18092831	AoSMC	blood vessel:	n/a
28	chr19:18075251-18075301	HAEpiC	amniotic membrane:	n/a
29	chr19:18077834-18077884	H1-hESC	embryonic stem cell:	embryo
30	chr19:18063313-18063363	A549	lung:	n/a
31	chr19:18060683-18060733	NB4	blood:	n/a
32	chr19:18077834-18077884	MCF10A-Er-Src	breast:	n/a
33	chr19:18092781-18092831	SAEC	small airway:	n/a
34	chr19:18061256-18061306	ovcar-3	ovarian:	n/a
35	chr19:18077834-18077884	HIPEpiC	eye:	n/a
36	chr19:18093867-18093917	NH-A	brain:	n/a
37	chr19:18093867-18093917	HPAEpiC	pulmonary alveolar:	n/a
38	chr19:18061155-18061205	HEEpiC	esophagus:	n/a
39	chr19:18077834-18077884	ovcar-3	ovarian:	n/a
40	chr19:18077791-18077841	AG09319	gingival:	n/a
41	chr19:18061472-18061522	BE2_C	brain:	n/a
42	chr19:18078973-18079023	T-47D	breast:	n/a
43	chr19:18092781-18092831	ovcar-3	ovarian:	n/a
44	chr19:18084986-18085036	MCF10A-Er-Src	breast:	n/a
45	chr19:18075251-18075301	NT2-D1	testis:	n/a
46	chr19:18092728-18092778	U87	brain:	n/a
47	chr19:18063762-18063812	GM06990	blood:	n/a
48	chr19:18092781-18092831	AG04450	lung:	fetal
49	chr19:18075251-18075301	RPTEC	kidney:	n/a
50	chr19:18084986-18085036	AG04449	skin:	fetal

(count:70 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:18091990..18093970-chr19:18094646..18097380,2	K562	blood:
2	chr19:18055988..18065489-chr19:18073307..18083163,16	K562	blood:
3	chr19:18074215..18077620-chr19:18078489..18082245,4	K562	blood:
4	chr19:18076632..18080569-chr19:18093653..18095894,3	K562	blood:
5	chr19:18058883..18061817-chr19:18083400..18086380,2	K562	blood:
6	chr19:18077567..18079811-chr19:18082377..18085090,2	K562	blood:
7	chr19:18058545..18060351-chr19:18094684..18096854,2	MCF-7	breast:
8	chr19:18076276..18077913-chr19:18085096..18087175,2	K562	blood:
9	chr19:18052887..18055484-chr19:18079172..18081041,3	K562	blood:
10	chr19:18085605..18088089-chr19:18094950..18097092,2	K562	blood:
11	chr19:18063624..18065452-chr19:18085492..18088181,2	K562	blood:
12	chr19:18057090..18059767-chr19:18110634..18113948,3	MCF-7	breast:
13	chr19:18064928..18066707-chr19:18077223..18078894,2	MCF-7	breast:
14	chr19:18074213..18076660-chr19:18083467..18086200,2	MCF-7	breast:
15	chr19:18052069..18059812-chr19:18106129..18113779,16	K562	blood:
16	chr19:18094000..18095903-chr19:18144296..18146129,2	K562	blood:
17	chr19:18083865..18087529-chr19:18108200..18110509,3	K562	blood:
18	chr19:18058858..18061007-chr19:18390720..18393623,2	K562	blood:
19	chr19:18055988..18065489-chr19:18073307..18083163,16	K562	blood:
20	chr19:18057399..18062095-chr19:18108081..18112546,5	K562	blood:
21	chr19:18091439..18094834-chr19:18096342..18098912,3	K562	blood:
22	chr19:18062540..18064652-chr19:18110369..18112055,2	MCF-7	breast:
23	chr19:18058855..18062679-chr19:18075387..18079032,3	MCF-7	breast:
24	chr19:18057965..18060030-chr19:18157844..18159639,2	K562	blood:
25	chr19:17982249..17983850-chr19:18081596..18084484,2	K562	blood:
26	chr19:18083279..18085015-chr19:18096044..18097768,2	K562	blood:
27	chr19:18060053..18061688-chr19:18218502..18220719,2	K562	blood:
28	chr19:18074215..18077620-chr19:18078489..18082245,4	K562	blood:
29	chr19:18061398..18062926-chr19:18110709..18112847,2	MCF-7	breast:
30	chr19:18057353..18059947-chr19:18110814..18113485,3	MCF-7	breast:
31	chr19:18077567..18079811-chr19:18082377..18085090,2	K562	blood:
32	chr19:18058855..18062679-chr19:18075387..18079032,3	MCF-7	breast:
33	chr19:18059749..18060616-chr19:18107405..18108095,3	MCF-7	breast:
34	chr19:17974807..17978167-chr19:18058036..18060976,4	K562	blood:
35	chr19:18058545..18060351-chr19:18094684..18096854,2	MCF-7	breast:
36	chr19:18085605..18088089-chr19:18094950..18097092,2	K562	blood:
37	chr19:18063771..18065782-chr19:18108055..18109961,2	MCF-7	breast:
38	chr19:17970109..17972099-chr19:18059372..18061707,2	MCF-7	breast:
39	chr19:18092395..18094277-chr19:18107509..18109156,2	K562	blood:
40	chr19:18083279..18085488-chr19:18094397..18097544,3	K562	blood:
41	chr19:18079573..18082569-chr19:18112067..18113857,2	K562	blood:
42	chr19:17977046..17979867-chr19:18087845..18090111,2	K562	blood:
43	chr19:17969127..17971945-chr19:18063059..18065460,2	K562	blood:
44	chr19:18052531..18054243-chr19:18083293..18086646,3	K562	blood:
45	chr19:17969435..17972591-chr19:18056494..18062279,6	K562	blood:
46	chr19:18057341..18060009-chr19:18227603..18230383,4	K562	blood:
47	chr19:18076868..18079514-chr19:18090514..18092677,2	K562	blood:
48	chr19:18057024..18060346-chr19:18095045..18097691,3	K562	blood:
49	chr19:18079287..18080876-chr19:18108150..18111999,3	K562	blood:
50	chr19:18058787..18061046-chr19:18077855..18080971,5	K562	blood:

(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
ENSG00000267959	chromatin interactions
ENSG00000252591	chromatin interactions
ENSG00000130522	chromatin interactions
ENSG00000105640	chromatin interactions
ENSG00000243455	chromatin interactions
ENSG00000105643	chromatin interactions
ENSG00000105642	chromatin interactions
ENSG00000007080	chromatin interactions
ENSG00000105641	chromatin interactions

Extended variants
information (count: 1299 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1299 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12609274	chr19:18059744-18059745	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116837258	chr19:18059902-18059903	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs557881297	chr19:18059910-18059911	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs568034032	chr19:18059921-18059922	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs138418421	chr19:18059984-18059985	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs556718374	chr19:18059992-18059993	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs76989713	chr19:18060047-18060048	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs143925553	chr19:18060062-18060063	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs553696952	chr19:18060076-18060077	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs189440503	chr19:18060079-18060080	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs181203996	chr19:18060109-18060110	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs542013861	chr19:18060134-18060135	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs555853970	chr19:18060170-18060171	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs370452443	chr19:18060192-18060193	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs544668831	chr19:18060298-18060299	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs556743471	chr19:18060299-18060300	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs564184279	chr19:18060313-18060314	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs533143633	chr19:18060315-18060316	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs578129554	chr19:18060328-18060329	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs147262719	chr19:18060334-18060335	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs139673825	chr19:18060346-18060347	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs143580018	chr19:18060361-18060362	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs576590668	chr19:18060369-18060370	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs548044976	chr19:18060396-18060397	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs568231884	chr19:18060436-18060437	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs530549305	chr19:18060437-18060438	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs550693369	chr19:18060438-18060439	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs6512238	chr19:18060457-18060458	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs368550975	chr19:18060471-18060472	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs539401533	chr19:18060479-18060480	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs553709156	chr19:18060480-18060481	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs567144043	chr19:18060481-18060482	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs11672874	chr19:18060482-18060483	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs35010285	chr19:18060540-18060541	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs555709051	chr19:18060557-18060558	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs575789918	chr19:18060604-18060605	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs144191783	chr19:18060650-18060651	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs368373266	chr19:18060711-18060712	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs572829583	chr19:18060726-18060727	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs577617874	chr19:18060736-18060737	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs372175691	chr19:18060825-18060826	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs559236843	chr19:18060876-18060877	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs528410891	chr19:18060927-18060928	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs542086642	chr19:18061015-18061016	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs541843629	chr19:18061041-18061042	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs186081748	chr19:18061071-18061072	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs573309631	chr19:18061082-18061083	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs530722533	chr19:18061112-18061113	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs550707331	chr19:18061119-18061120	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs564125759	chr19:18061158-18061159	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1042 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18058000-18060000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr19:18058200-18059800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:18058200-18059800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr19:18058200-18059800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr19:18058200-18060000	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr19:18058200-18060000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:18058200-18060000	Active TSS	Aorta	Aorta
8	chr19:18058400-18059800	Active TSS	H1 Cell Line	embryonic stem cell
9	chr19:18058400-18059800	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr19:18058400-18059800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr19:18058400-18059800	Active TSS	Rectal Smooth Muscle	rectum
12	chr19:18058400-18059800	Active TSS	Right Atrium	heart
13	chr19:18058400-18059800	Active TSS	Right Ventricle	heart
14	chr19:18058400-18060000	Active TSS	Ovary	ovary
15	chr19:18058600-18059800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:18058600-18059800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
17	chr19:18058600-18059800	Active TSS	Thymus	Thymus
18	chr19:18058600-18060000	Active TSS	Fetal Brain Female	brain
19	chr19:18058600-18060000	Enhancers	Placenta	Placenta
20	chr19:18058600-18060800	Weak transcription	Gastric	stomach
21	chr19:18058600-18061000	Enhancers	K562	blood
22	chr19:18059200-18060000	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr19:18059200-18060000	Weak transcription	Liver	Liver
24	chr19:18059200-18060000	Weak transcription	Esophagus	oesophagus
25	chr19:18059200-18060800	Weak transcription	Lung	lung
26	chr19:18059200-18062200	Enhancers	Fetal Brain Male	brain
27	chr19:18059200-18063800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
28	chr19:18059200-18064400	Enhancers	Pancreas	Pancrea
29	chr19:18059400-18059800	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr19:18059400-18059800	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr19:18059400-18059800	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr19:18059400-18059800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
33	chr19:18059400-18059800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr19:18059400-18059800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr19:18059400-18059800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr19:18059400-18059800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:18059400-18059800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr19:18059400-18059800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr19:18059400-18059800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr19:18059400-18059800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr19:18059400-18059800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr19:18059400-18059800	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr19:18059400-18059800	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr19:18059400-18059800	Enhancers	Fetal Kidney	kidney
45	chr19:18059400-18059800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
46	chr19:18059400-18059800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
47	chr19:18059400-18059800	Flanking Active TSS	Dnd41	blood
48	chr19:18059400-18060000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:18059400-18060000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr19:18059400-18060000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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