Variant report

Variant	esv1791796
Chromosome Location	chr19:45673701-45681988
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:899)
CpG islands
(count:977)
Chromatin interactive
region (count:43)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:899 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:45681488-45682369	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:45674646-45675015	K562	blood:	n/a	n/a
3	ARID3A	chr19:45681621-45682077	K562	blood:	n/a	n/a
4	ATF1	chr19:45674539-45674944	K562	blood:	n/a	n/a
5	ATF1	chr19:45681004-45682199	K562	blood:	n/a	n/a
6	ATF2	chr19:45680892-45682228	GM12878	blood:	n/a	n/a
7	ATF2	chr19:45676954-45677442	GM12878	blood:	n/a	n/a
8	ATF3	chr19:45681512-45682044	H1-hESC	embryonic stem cell:	n/a	chr19:45681614-45681623 chr19:45681659-45681668
9	ATF3	chr19:45681371-45682278	K562	blood:	n/a	chr19:45681614-45681623 chr19:45681659-45681668
10	ATF3	chr19:45681519-45682167	H1-hESC	embryonic stem cell:	n/a	chr19:45681614-45681623 chr19:45681659-45681668
11	BCL3	chr19:45680260-45680594	GM12878	blood:	n/a	n/a
12	BCL3	chr19:45681211-45682392	A549	lung:	n/a	n/a
13	BCL3	chr19:45680734-45682586	A549	lung:	n/a	n/a
14	BCLAF1	chr19:45681169-45681637	GM12878	blood:	n/a	n/a
15	BHLHE40	chr19:45680390-45680590	K562	blood:	n/a	n/a
16	BHLHE40	chr19:45681463-45682616	A549	lung:	n/a	chr19:45682072-45682088
17	BHLHE40	chr19:45681127-45682679	HepG2	liver:	n/a	chr19:45682072-45682088
18	BHLHE40	chr19:45681236-45682748	GM12878	blood:	n/a	chr19:45682072-45682088
19	BHLHE40	chr19:45680931-45683148	K562	blood:	n/a	chr19:45682072-45682088
20	BHLHE40	chr19:45674723-45674906	K562	blood:	n/a	n/a
21	BRCA1	chr19:45681523-45682223	GM12878	blood:	n/a	n/a
22	BRCA1	chr19:45681173-45682297	Hela-S3	cervix:	n/a	n/a
23	CBX3	chr19:45674509-45674866	K562	blood:	n/a	n/a
24	CBX3	chr19:45680249-45680632	K562	blood:	n/a	n/a
25	CBX3	chr19:45681243-45682890	K562	blood:	n/a	n/a
26	CCNT2	chr19:45681299-45682206	K562	blood:	n/a	n/a
27	CEBPB	chr19:45681189-45682144	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr19:45681009-45682042	A549	lung:	n/a	n/a
29	CEBPB	chr19:45681306-45681973	MCF-7	breast:	n/a	n/a
30	CEBPB	chr19:45681431-45681838	HepG2	liver:	n/a	n/a
31	CEBPB	chr19:45679004-45679261	IMR90	lung:	n/a	n/a
32	CEBPB	chr19:45681219-45682117	HepG2	liver:	n/a	n/a
33	CEBPB	chr19:45681010-45682133	IMR90	lung:	n/a	n/a
34	CEBPB	chr19:45681419-45681951	A549	lung:	n/a	n/a
35	CEBPB	chr19:45681144-45682214	K562	blood:	n/a	n/a
36	CEBPB	chr19:45679090-45679254	K562	blood:	n/a	n/a
37	CEBPB	chr19:45681392-45681867	ECC-1	luminal epithelium:	n/a	n/a
38	CEBPB	chr19:45681061-45682118	A549	lung:	n/a	n/a
39	CEBPB	chr19:45681430-45681812	HepG2	liver:	n/a	n/a
40	CEBPB	chr19:45681025-45682247	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr19:45681106-45682206	ECC-1	luminal epithelium:	n/a	n/a
42	CEBPB	chr19:45679115-45679244	HepG2	liver:	n/a	n/a
43	CEBPB	chr19:45681148-45682188	HepG2	liver:	n/a	n/a
44	CEBPB	chr19:45678964-45679267	A549	lung:	n/a	n/a
45	CEBPB	chr19:45679618-45679803	K562	blood:	n/a	n/a
46	CEBPB	chr19:45681322-45682131	K562	blood:	n/a	n/a
47	CEBPB	chr19:45681374-45681882	K562	blood:	n/a	n/a
48	CEBPB	chr19:45681048-45682141	MCF-7	breast:	n/a	n/a
49	CEBPD	chr19:45681310-45681900	K562	blood:	n/a	n/a
50	CEBPD	chr19:45681308-45681751	HepG2	liver:	n/a	n/a

(count:977 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:45681828-45681878	HIPEpiC	eye:	n/a
2	chr19:45681828-45681878	HIPEpiC	eye:	n/a
3	chr19:45681987-45682037	U87	brain:	n/a
4	chr19:45681491-45681541	HCF	heart:	n/a
5	chr19:45681945-45681995	T-47D	breast:	n/a
6	chr19:45681503-45681553	SK-N-SH	brain:	n/a
7	chr19:45681491-45681541	U87	brain:	n/a
8	chr19:45681987-45682037	GM06990	blood:	n/a
9	chr19:45680948-45680998	HRPEpiC	eye:	n/a
10	chr19:45681510-45681560	SK-N-MC	brain:	n/a
11	chr19:45681968-45682018	CMK	blood:	n/a
12	chr19:45681503-45681553	ovcar-3	ovarian:	n/a
13	chr19:45681580-45681630	HPAEpiC	pulmonary alveolar:	n/a
14	chr19:45681945-45681995	PANC-1	pancreas:	n/a
15	chr19:45681580-45681630	Caco-2	colon:	n/a
16	chr19:45681987-45682037	NHDF-neo	bronchial:	n/a
17	chr19:45681899-45681949	Jurkat	blood:	n/a
18	chr19:45681968-45682018	AG04450	lung:	fetal
19	chr19:45681487-45681537	SK-N-SH	brain:	n/a
20	chr19:45681828-45681878	HAEpiC	amniotic membrane:	n/a
21	chr19:45681987-45682037	H1-hESC	embryonic stem cell:	embryo
22	chr19:45681487-45681537	GM12878	blood:	n/a
23	chr19:45681945-45681995	AoSMC	blood vessel:	n/a
24	chr19:45681503-45681553	GM12892	blood:	n/a
25	chr19:45681407-45681457	ECC-1	luminal epithelium:	n/a
26	chr19:45681503-45681553	NT2-D1	testis:	n/a
27	chr19:45681407-45681457	RPTEC	kidney:	n/a
28	chr19:45680948-45680998	GM19239	blood:	n/a
29	chr19:45681510-45681560	K562	blood:	n/a
30	chr19:45681968-45682018	H1-hESC	embryonic stem cell:	embryo
31	chr19:45681945-45681995	MCF10A-Er-Src	breast:	n/a
32	chr19:45681968-45682018	A549	lung:	n/a
33	chr19:45681945-45681995	SK-N-SH	brain:	n/a
34	chr19:45681716-45681766	LNCaP	prostate:	n/a
35	chr19:45681407-45681457	SK-N-MC	brain:	n/a
36	chr19:45681968-45682018	HepG2	liver:	n/a
37	chr19:45681580-45681630	ovcar-3	ovarian:	n/a
38	chr19:45681407-45681457	HCPEpiC	choroid plexus:	n/a
39	chr19:45681503-45681553	HNPCEpiC	eye:	n/a
40	chr19:45681968-45682018	HEEpiC	esophagus:	n/a
41	chr19:45681407-45681457	HCF	heart:	n/a
42	chr19:45681968-45682018	NH-A	brain:	n/a
43	chr19:45681945-45681995	BE2_C	brain:	n/a
44	chr19:45680948-45680998	AG10803	skin:	n/a
45	chr19:45681945-45681995	NT2-D1	testis:	n/a
46	chr19:45681510-45681560	T-47D	breast:	n/a
47	chr19:45681407-45681457	HUVEC	blood vessel:	n/a
48	chr19:45681487-45681537	HEEpiC	esophagus:	n/a
49	chr19:45681899-45681949	GM06990	blood:	n/a
50	chr19:45681968-45682018	GM19239	blood:	n/a

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45662322..45663842-chr19:45681568..45683237,2	K562	blood:
2	chr19:45674624..45677350-chr19:45825375..45827077,2	K562	blood:
3	chr19:45681420..45684587-chr19:45687242..45692393,7	MCF-7	breast:
4	chr19:45658848..45663469-chr19:45680259..45684163,6	MCF-7	breast:
5	chr11:69061460..69062140-chr19:45681721..45682573,2	HCT-116	colon:
6	chr19:45541123..45542652-chr19:45681977..45683668,2	MCF-7	breast:
7	chr19:45672516..45674709-chr19:45674785..45678342,3	MCF-7	breast:
8	chr19:45662986..45665751-chr19:45672149..45675841,4	MCF-7	breast:
9	chr19:45679504..45683518-chr19:45685241..45688488,5	MCF-7	breast:
10	chr19:45673214..45674833-chr19:45677772..45679460,2	K562	blood:
11	chr19:45672516..45674709-chr19:45674785..45678342,3	MCF-7	breast:
12	chr17:16341750..16342479-chr19:45681510..45682384,2	Hela-S3	cervix:
13	chr19:45680180..45683713-chr19:45733323..45737109,3	K562	blood:
14	chr19:45673214..45674833-chr19:45677772..45679460,2	K562	blood:
15	chr19:45672317..45675503-chr19:45675709..45677747,4	K562	blood:
16	chr19:45662322..45668242-chr19:45680645..45684470,7	K562	blood:
17	chr19:45639686..45641880-chr19:45681901..45684356,2	MCF-7	breast:
18	chr19:45681162..45683480-chr19:45842144..45844672,3	K562	blood:
19	chr19:45667869..45670716-chr19:45675537..45677306,2	MCF-7	breast:
20	chr19:45503982..45506844-chr19:45681115..45683310,3	K562	blood:
21	chr19:45594874..45597676-chr19:45681810..45683655,2	K562	blood:
22	chr19:45665456..45669944-chr19:45672662..45676859,4	MCF-7	breast:
23	chr19:45652739..45654632-chr19:45677367..45679374,2	MCF-7	breast:
24	chr19:45675481..45678583-chr19:45681504..45683285,3	K562	blood:
25	chr19:45615655..45617695-chr19:45672938..45674572,2	MCF-7	breast:
26	chr19:45672317..45675503-chr19:45675709..45677747,4	K562	blood:
27	chr19:45594755..45598539-chr19:45681810..45685400,4	K562	blood:
28	chr19:45663229..45667496-chr19:45672423..45675746,6	K562	blood:
29	chr19:45660357..45662141-chr19:45673721..45675839,2	MCF-7	breast:
30	chr19:45655086..45657605-chr19:45680853..45682730,2	MCF-7	breast:
31	chr19:45680559..45684359-chr19:45688843..45692525,5	MCF-7	breast:
32	chr19:45644450..45646816-chr19:45679774..45683109,3	MCF-7	breast:
33	chr19:45663965..45672033-chr19:45672145..45675901,9	K562	blood:
34	chr19:45675726..45677672-chr19:45752421..45754832,2	MCF-7	breast:
35	chr19:45581068..45583958-chr19:45681428..45684016,2	K562	blood:
36	chr19:45594892..45596535-chr19:45681783..45683354,2	MCF-7	breast:
37	chr19:45578352..45580821-chr19:45679388..45681588,2	K562	blood:
38	chr19:45673701..45675733-chr19:45689481..45691712,2	MCF-7	breast:
39	chr19:45654421..45658397-chr19:45679888..45682724,3	K562	blood:
40	chr19:45675317..45679355-chr19:45679533..45681845,4	K562	blood:
41	chr19:45675822..45679295-chr19:45679475..45683800,7	MCF-7	breast:
42	chr19:45596183..45598071-chr19:45678820..45681016,3	K562	blood:
43	chr19:45652567..45654233-chr19:45681921..45683559,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267545	TF binding region
BLOC1S3	TF binding region
TRAPPC6A	TF binding region
ENSG00000267545	CpG island
BLOC1S3	CpG island
TRAPPC6A	CpG island
ENSG00000007255	chromatin interactions
ENSG00000266958	chromatin interactions
ENSG00000189114	chromatin interactions
ENSG00000179846	chromatin interactions
ENSG00000267037	chromatin interactions
ENSG00000104892	chromatin interactions
ENSG00000225157	chromatin interactions
ENSG00000104859	chromatin interactions
ENSG00000267044	chromatin interactions
ENSG00000170684	chromatin interactions
ENSG00000267545	chromatin interactions
ENSG00000268341	chromatin interactions
ENSG00000007047	chromatin interactions
ENSG00000104866	chromatin interactions
ENSG00000104879	chromatin interactions
ENSG00000172927	chromatin interactions
ENSG00000130201	chromatin interactions
ENSG00000104856	chromatin interactions
ENSG00000142252	chromatin interactions
ENSG00000175061	chromatin interactions

Extended variants
information (count: 371 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28367893	chr19:45673701-45673702	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs146361771	chr19:45673702-45673703	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs189252535	chr19:45673750-45673751	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs575675158	chr19:45673803-45673804	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs566377425	chr19:45673835-45673836	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs558172251	chr19:45673877-45673878	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs578040167	chr19:45673883-45673884	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs548625353	chr19:45673926-45673927	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs546121413	chr19:45673928-45673929	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs2240742	chr19:45673929-45673930	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs34550999	chr19:45673932-45673933	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs528289208	chr19:45673946-45673947	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs34946822	chr19:45673955-45673956	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs375705027	chr19:45673971-45673972	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs541992424	chr19:45673990-45673991	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs561658402	chr19:45674020-45674021	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs78626409	chr19:45674078-45674079	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs550365193	chr19:45674097-45674098	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs375779043	chr19:45674098-45674099	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs569717059	chr19:45674109-45674110	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs532740795	chr19:45674119-45674120	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs546906795	chr19:45674120-45674121	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs566809581	chr19:45674122-45674123	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs368866499	chr19:45674126-45674127	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs139656036	chr19:45674164-45674165	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs561495902	chr19:45674215-45674216	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs373496802	chr19:45674246-45674247	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs569289924	chr19:45674273-45674274	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs113458075	chr19:45674285-45674286	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs558233960	chr19:45674290-45674291	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs371198470	chr19:45674334-45674335	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs190753765	chr19:45674347-45674348	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs537136678	chr19:45674429-45674430	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs553336929	chr19:45674488-45674489	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs150712507	chr19:45674557-45674558	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs570795004	chr19:45674558-45674559	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs201189859	chr19:45674563-45674564	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs370291492	chr19:45674596-45674597	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs541705390	chr19:45674598-45674599	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs561929339	chr19:45674655-45674656	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs80222272	chr19:45674720-45674721	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs543925717	chr19:45674748-45674749	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs573734539	chr19:45674749-45674750	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs142924671	chr19:45674775-45674776	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs532800369	chr19:45674802-45674803	Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs182654999	chr19:45674807-45674808	Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs374573441	chr19:45674835-45674836	Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs57302271	chr19:45674845-45674846	Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs373780620	chr19:45674877-45674878	Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs529578585	chr19:45674917-45674918	Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Adrenocortical carcinoma	18281524	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Muscular dystrophy	17160897	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:713 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45660200-45674000	Weak transcription	A549	lung
2	chr19:45665400-45680400	Weak transcription	Brain Substantia Nigra	brain
3	chr19:45665400-45680600	Weak transcription	Fetal Lung	lung
4	chr19:45665600-45680400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr19:45665800-45674600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:45665800-45680200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr19:45665800-45680400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr19:45667400-45681000	Weak transcription	Aorta	Aorta
9	chr19:45668000-45674600	Weak transcription	HSMMtube	muscle
10	chr19:45668000-45680600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr19:45668200-45674600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr19:45668200-45676000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr19:45668400-45673800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr19:45668400-45673800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr19:45668400-45673800	Weak transcription	Stomach Mucosa	stomach
16	chr19:45668400-45675600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr19:45668400-45676800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr19:45668400-45680400	Weak transcription	Fetal Intestine Large	intestine
19	chr19:45668400-45680600	Weak transcription	Colon Smooth Muscle	Colon
20	chr19:45668400-45680600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr19:45668600-45673800	Weak transcription	Primary T cells from cord blood	blood
22	chr19:45668600-45673800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr19:45668600-45675600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr19:45668600-45679000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr19:45668800-45680400	Weak transcription	Brain Anterior Caudate	brain
26	chr19:45668800-45680400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr19:45669000-45674000	Weak transcription	GM12878-XiMat	blood
28	chr19:45669000-45674600	Weak transcription	Thymus	Thymus
29	chr19:45669000-45680200	Weak transcription	Fetal Brain Female	brain
30	chr19:45670000-45674000	Weak transcription	Primary B cells from cord blood	blood
31	chr19:45670200-45680200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr19:45670200-45680400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr19:45670400-45674000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr19:45670400-45675000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr19:45670400-45675600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr19:45670400-45675600	Weak transcription	Right Atrium	heart
37	chr19:45670400-45675800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr19:45670600-45673800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:45670600-45673800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr19:45670600-45673800	Weak transcription	Adipose Nuclei	Adipose
41	chr19:45670600-45673800	Weak transcription	HMEC	breast
42	chr19:45670600-45674000	Weak transcription	NHEK	skin
43	chr19:45670600-45674600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr19:45670600-45674600	Weak transcription	Fetal Muscle Leg	muscle
45	chr19:45670600-45675000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr19:45670600-45680400	Weak transcription	Brain Angular Gyrus	brain
47	chr19:45670600-45680400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr19:45670800-45674600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr19:45670800-45675600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr19:45670800-45680400	Weak transcription	H9 Cell Line	embryonic stem cell

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