Variant report

Variant	nsv911774
Chromosome Location	chr19:42250325-42288821
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr19:42257990-42258186	GM12878	blood:	n/a	n/a
2	BHLHE40	chr19:42257236-42257273	A549	lung:	n/a	n/a
3	BRCA1	chr19:42250661-42250845	Hela-S3	cervix:	n/a	n/a
4	CBX3	chr19:42278204-42278885	HCT-116	colon:	n/a	n/a
5	CEBPB	chr19:42278385-42278849	MCF-7	breast:	n/a	n/a
6	CEBPB	chr19:42278147-42278921	HCT-116	colon:	n/a	n/a
7	CEBPB	chr19:42258406-42258941	MCF-7	breast:	n/a	n/a
8	CEBPB	chr19:42258453-42258801	MCF-7	breast:	n/a	n/a
9	CEBPB	chr19:42258041-42258115	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr19:42258033-42258079	K562	blood:	n/a	n/a
11	CEBPB	chr19:42278289-42278831	MCF-7	breast:	n/a	n/a
12	CTCF	chr19:42250700-42250850	GM12868	blood:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
13	CTCF	chr19:42257220-42257370	HFF-Myc	foreskin:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
14	CTCF	chr19:42257260-42257410	K562	blood:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
15	CTCF	chr19:42257820-42257970	A549	lung:	n/a	n/a
16	CTCF	chr19:42258277-42258452	Medullo	brain:	n/a	n/a
17	CTCF	chr19:42250660-42250810	GM12867	blood:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
18	CTCF	chr19:42258333-42258426	GM20000	blood:	n/a	n/a
19	CTCF	chr19:42257220-42257370	HepG2	liver:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
20	CTCF	chr19:42257220-42257370	HBMEC	blood vessel:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
21	CTCF	chr19:42257891-42258175	Lung_OC	lung:	n/a	n/a
22	CTCF	chr19:42250700-42250850	AoAF	blood vessel:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
23	CTCF	chr19:42250720-42250870	MCF-7	breast:	n/a	chr19:42250724-42250742
24	CTCF	chr19:42256955-42257062	GM19239	blood:	n/a	n/a
25	CTCF	chr19:42258283-42258371	GM10266	blood:	n/a	n/a
26	CTCF	chr19:42256780-42256930	GM12864	blood:	n/a	n/a
27	CTCF	chr19:42253520-42253539	GM10248	blood:	n/a	n/a
28	CTCF	chr19:42257152-42257403	MCF-7	breast:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
29	CTCF	chr19:42257044-42257458	HepG2	liver:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
30	CTCF	chr19:42257120-42257270	WI-38	lung:	n/a	n/a
31	CTCF	chr19:42257240-42257390	HEK293	kidney:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
32	CTCF	chr19:42250940-42251090	HUVEC	blood vessel:	n/a	n/a
33	CTCF	chr19:42257920-42258070	GM12875	blood:	n/a	n/a
34	CTCF	chr19:42250641-42250855	Fibrobl	skin:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
35	CTCF	chr19:42257878-42258218	Medullo	brain:	n/a	n/a
36	CTCF	chr19:42250680-42250830	SK-N-SH_RA	brain:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
37	CTCF	chr19:42257174-42257382	LNCaP	prostate:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
38	CTCF	chr19:42257900-42258050	WERI-Rb-1	eye:	n/a	n/a
39	CTCF	chr19:42256440-42256590	GM12865	blood:	n/a	n/a
40	CTCF	chr19:42257200-42257350	GM12869	blood:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
41	CTCF	chr19:42257220-42257370	HCM	heart:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
42	CTCF	chr19:42257240-42257390	GM12866	blood:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
43	CTCF	chr19:42257025-42257031	GM10266	blood:	n/a	n/a
44	CTCF	chr19:42250603-42250814	SK-N-SH_RA	brain:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
45	CTCF	chr19:42257920-42258070	HEEpiC	esophagus:	n/a	n/a
46	CTCF	chr19:42257940-42258090	GM12871	blood:	n/a	n/a
47	CTCF	chr19:42257220-42257370	NHEK	skin:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
48	CTCF	chr19:42250640-42250870	GM12867	blood:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
49	CTCF	chr19:42257628-42257725	Medullo	brain:	n/a	n/a
50	CTCF	chr19:42257118-42257397	HUVEC	blood vessel:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42259235-42259285	GM12891	blood:	n/a
2	chr19:42260485-42260535	HNPCEpiC	eye:	n/a
3	chr19:42259235-42259285	NHBE	bronchial:	n/a
4	chr19:42259235-42259285	GM12892	blood:	n/a
5	chr19:42260485-42260535	HPAEpiC	pulmonary alveolar:	n/a
6	chr19:42259395-42259445	IMR90	lung:	fetal
7	chr19:42258336-42258386	SK-N-SH	brain:	n/a
8	chr19:42274924-42274974	Hela-S3	cervix:	n/a
9	chr19:42259235-42259285	MCF10A-Er-Src	breast:	n/a
10	chr19:42259081-42259131	HMEC	breast:	n/a
11	chr19:42258336-42258386	HUVEC	blood vessel:	n/a
12	chr19:42259395-42259445	HPAEpiC	pulmonary alveolar:	n/a
13	chr19:42259395-42259445	NHBE	bronchial:	n/a
14	chr19:42260485-42260535	Jurkat	blood:	n/a
15	chr19:42259235-42259285	CMK	blood:	n/a
16	chr19:42259235-42259285	RPTEC	kidney:	n/a
17	chr19:42259081-42259131	BE2_C	brain:	n/a
18	chr19:42275193-42275243	HNPCEpiC	eye:	n/a
19	chr19:42260485-42260535	SK-N-SH	brain:	n/a
20	chr19:42275193-42275243	HCM	heart:	n/a
21	chr19:42274924-42274974	SAEC	small airway:	n/a
22	chr19:42259395-42259445	NB4	blood:	n/a
23	chr19:42260485-42260535	AG04449	skin:	fetal
24	chr19:42260485-42260535	NHBE	bronchial:	n/a
25	chr19:42275193-42275243	GM12892	blood:	n/a
26	chr19:42259081-42259131	AG04449	skin:	fetal
27	chr19:42259395-42259445	Hepatocyte	liver:	n/a
28	chr19:42258336-42258386	AG10803	skin:	n/a
29	chr19:42275193-42275243	HRE	kidney:	n/a
30	chr19:42259081-42259131	K562	blood:	n/a
31	chr19:42274924-42274974	HRE	kidney:	n/a
32	chr19:42259235-42259285	ovcar-3	ovarian:	n/a
33	chr19:42259081-42259131	AoSMC	blood vessel:	n/a
34	chr19:42259081-42259131	RPTEC	kidney:	n/a
35	chr19:42259395-42259445	GM12878	blood:	n/a
36	chr19:42275193-42275243	AG09309	skin:	n/a
37	chr19:42259081-42259131	PrEC	prostate:	n/a
38	chr19:42258336-42258386	HPAEpiC	pulmonary alveolar:	n/a
39	chr19:42275193-42275243	HRCEpiC	kidney:	n/a
40	chr19:42275193-42275243	HPAEpiC	pulmonary alveolar:	n/a
41	chr19:42260485-42260535	BJ	skin:	n/a
42	chr19:42259235-42259285	HIPEpiC	eye:	n/a
43	chr19:42258336-42258386	GM06990	blood:	n/a
44	chr19:42275193-42275243	ECC-1	luminal epithelium:	n/a
45	chr19:42259081-42259131	NB4	blood:	n/a
46	chr19:42275193-42275243	HEEpiC	esophagus:	n/a
47	chr19:42258336-42258386	NT2-D1	testis:	n/a
48	chr19:42260485-42260535	ovcar-3	ovarian:	n/a
49	chr19:42259395-42259445	PFSK-1	brain:	n/a
50	chr19:42259395-42259445	ProgFib	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:42238387..42240007-chr19:42287933..42289826,2	MCF-7	breast:
2	chr19:42256878..42257460-chr19:42288323..42288994,2	MCF-7	breast:
3	chr19:42249789..42252137-chr19:42296229..42297905,2	MCF-7	breast:
4	chr19:42265754..42267325-chr19:42289223..42291890,2	K562	blood:
5	chr19:42270435..42273069-chr19:42278370..42280159,2	MCF-7	breast:
6	chr19:42278941..42284055-chr19:42287718..42293319,7	MCF-7	breast:
7	chr19:42256392..42258478-chr19:42289082..42290564,19	MCF-7	breast:
8	chr19:42258418..42261395-chr19:42263333..42266210,2	K562	blood:
9	chr19:42256878..42257460-chr19:42288323..42288994,2	MCF-7	breast:
10	chr19:42257481..42258252-chr19:42289232..42289768,2	MCF-7	breast:
11	chr19:42270435..42273069-chr19:42278370..42280159,2	MCF-7	breast:
12	chr19:42278093..42278816-chr19:42296664..42297371,2	MCF-7	breast:
13	chr19:42262778..42266389-chr19:42276917..42279036,3	MCF-7	breast:
14	chr19:42281683..42284072-chr19:42363148..42365714,2	MCF-7	breast:
15	chr19:42257939..42260578-chr19:42260800..42262480,2	K562	blood:
16	chr19:42271676..42273430-chr19:42276461..42278418,2	MCF-7	breast:
17	chr19:42255651..42257648-chr19:42288124..42290756,2	MCF-7	breast:
18	chr19:42267949..42271165-chr19:42271348..42273565,4	MCF-7	breast:
19	chr19:42208175..42212316-chr19:42277076..42281781,5	MCF-7	breast:
20	chr19:42259424..42262726-chr19:42264710..42268289,4	K562	blood:
21	chr19:42256872..42257731-chr19:42277925..42278830,2	MCF-7	breast:
22	chr19:42262778..42266389-chr19:42276917..42279036,3	MCF-7	breast:
23	chr19:42283769..42285761-chr19:42286969..42288964,2	MCF-7	breast:
24	chr19:42212037..42212962-chr19:42250295..42251188,4	MCF-7	breast:
25	chr19:42261241..42262900-chr19:42275127..42276730,2	MCF-7	breast:
26	chr19:42238849..42240375-chr19:42277307..42280132,2	MCF-7	breast:
27	chr19:42261241..42262900-chr19:42275127..42276730,2	MCF-7	breast:
28	chr19:42259424..42262726-chr19:42264710..42268289,4	K562	blood:
29	chr19:42286292..42289272-chr19:42318384..42321210,2	K562	blood:
30	chr19:42280334..42281890-chr19:42288112..42290516,2	MCF-7	breast:
31	chr19:42264279..42265864-chr19:42267759..42270746,2	MCF-7	breast:
32	chr19:42252191..42260165-chr19:42275924..42285275,20	MCF-7	breast:
33	chr19:42214835..42216861-chr19:42256777..42258757,2	MCF-7	breast:
34	chr19:42258231..42260656-chr19:42288307..42290436,3	MCF-7	breast:
35	chr19:42252204..42254602-chr19:42292364..42294329,2	MCF-7	breast:
36	chr19:42147964..42148906-chr19:42250000..42251190,4	MCF-7	breast:
37	chr19:42250749..42252304-chr19:42286973..42289582,3	MCF-7	breast:
38	chr19:42256268..42257789-chr19:42259874..42261531,2	MCF-7	breast:
39	chr19:42210268..42210769-chr19:42257717..42258347,2	MCF-7	breast:
40	chr19:42238634..42240225-chr19:42250463..42251967,2	MCF-7	breast:
41	chr19:42211076..42212814-chr19:42288522..42291440,2	MCF-7	breast:
42	chr19:42274897..42278651-chr19:42287593..42289573,3	MCF-7	breast:
43	chr19:42148303..42148992-chr19:42250108..42251260,4	K562	blood:
44	chr19:42277316..42282861-chr19:42295271..42298784,10	MCF-7	breast:
45	chr19:42256322..42257851-chr19:42324890..42325806,7	K562	blood:
46	chr19:42254797..42261680-chr19:42284783..42292674,12	MCF-7	breast:
47	chr19:42253200..42254991-chr19:42287539..42289133,2	MCF-7	breast:
48	chr19:42271676..42273430-chr19:42276461..42278418,2	MCF-7	breast:
49	chr19:42284065..42287581-chr19:42289073..42291292,3	MCF-7	breast:
50	chr19:42209556..42212105-chr19:42250130..42251602,39	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LYPD4-3	chr19:42261806-42261989	ENSG00000268833.1

Variant related genes	Relation type
CEACAM6	TF binding region
CEACAM6	CpG island
ENSG00000105388	chromatin interactions
ENSG00000269354	chromatin interactions
ENSG00000170956	chromatin interactions
ENSG00000268833	chromatin interactions
ENSG00000168564	chromatin interactions
ENSG00000007306	chromatin interactions
ENSG00000086548	chromatin interactions
ENSG00000105372	chromatin interactions
ENSG00000267881	chromatin interactions

Extended variants
information (count: 1566 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1566 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10415317	chr19:42250325-42250326	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs545199052	chr19:42250336-42250337	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs375969515	chr19:42250366-42250367	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs555652877	chr19:42250427-42250428	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs185497398	chr19:42250436-42250437	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs563293742	chr19:42250464-42250465	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs553721774	chr19:42250505-42250506	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs139570692	chr19:42250507-42250508	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs530857858	chr19:42250543-42250544	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs562716073	chr19:42250568-42250569	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs577812454	chr19:42250641-42250642	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs190019408	chr19:42250661-42250662	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs545092368	chr19:42250663-42250664	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs73932064	chr19:42250686-42250687	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs146559311	chr19:42250699-42250700	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs536137505	chr19:42250717-42250718	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs546949552	chr19:42250755-42250756	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs562028949	chr19:42250778-42250779	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs73932065	chr19:42250808-42250809	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs73932066	chr19:42250843-42250844	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs73932080	chr19:42250851-42250852	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs539506984	chr19:42250873-42250874	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs560587256	chr19:42250874-42250875	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs143198796	chr19:42250897-42250898	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs528058233	chr19:42250906-42250907	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs193041310	chr19:42250911-42250912	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs151213888	chr19:42250970-42250971	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs373658393	chr19:42251004-42251005	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs140311526	chr19:42251017-42251018	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs150338727	chr19:42251056-42251057	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs184861802	chr19:42251061-42251062	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs34291507	chr19:42251071-42251072	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs138017363	chr19:42251118-42251119	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs188683734	chr19:42251134-42251135	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs117539521	chr19:42251148-42251149	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs572080612	chr19:42251215-42251216	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs73932082	chr19:42251218-42251219	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs7257822	chr19:42251226-42251227	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs143577723	chr19:42251262-42251263	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs145864320	chr19:42251270-42251271	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs181163171	chr19:42251279-42251280	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs73932084	chr19:42251392-42251393	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs185261319	chr19:42251398-42251399	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs566944510	chr19:42251403-42251404	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs73047349	chr19:42251409-42251410	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs116779423	chr19:42251416-42251417	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs187968056	chr19:42251417-42251418	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs371569655	chr19:42251428-42251429	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs77265235	chr19:42251432-42251433	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs556514148	chr19:42251434-42251435	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	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
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:348 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42246600-42250600	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr19:42246600-42250800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr19:42246600-42251000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr19:42247000-42251000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:42248000-42250600	Enhancers	Fetal Intestine Large	intestine
6	chr19:42248200-42251000	Enhancers	Fetal Intestine Small	intestine
7	chr19:42248400-42250800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr19:42248400-42250800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr19:42249000-42250600	Enhancers	Colonic Mucosa	Colon
10	chr19:42249000-42251200	Enhancers	Stomach Mucosa	stomach
11	chr19:42249400-42251000	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr19:42249600-42250400	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr19:42250200-42250400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:42250200-42250400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
15	chr19:42250200-42250400	Enhancers	Small Intestine	intestine
16	chr19:42250200-42250600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
17	chr19:42250200-42250800	Enhancers	Duodenum Mucosa	Duodenum
18	chr19:42250400-42250600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
19	chr19:42250400-42250600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr19:42250400-42250800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
21	chr19:42250400-42250800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr19:42250400-42250800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
23	chr19:42250400-42251200	Enhancers	Primary hematopoietic stem cells	blood
24	chr19:42250600-42250800	Bivalent Enhancer	Primary T cells from cord blood	blood
25	chr19:42250600-42250800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
26	chr19:42250600-42250800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
27	chr19:42250600-42251000	Bivalent Enhancer	Primary B cells from cord blood	blood
28	chr19:42250600-42251000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr19:42250600-42251000	Bivalent Enhancer	A549	lung
30	chr19:42250600-42252400	Weak transcription	Colonic Mucosa	Colon
31	chr19:42250800-42251000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
32	chr19:42250800-42251000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
33	chr19:42250800-42251000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
34	chr19:42250800-42251000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
35	chr19:42250800-42251000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
36	chr19:42250800-42251000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
37	chr19:42250800-42251000	Enhancers	Pancreas	Pancrea
38	chr19:42250800-42251200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
39	chr19:42250800-42251400	Enhancers	Esophagus	oesophagus
40	chr19:42250800-42253200	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr19:42251000-42251400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
42	chr19:42251000-42254400	Weak transcription	Pancreas	Pancrea
43	chr19:42251200-42251400	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr19:42251200-42252400	Weak transcription	Stomach Mucosa	stomach
45	chr19:42251400-42252200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr19:42251400-42256200	Weak transcription	Esophagus	oesophagus
47	chr19:42252200-42252400	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr19:42252400-42253200	Enhancers	Colonic Mucosa	Colon
49	chr19:42252400-42253200	Enhancers	Stomach Mucosa	stomach
50	chr19:42252400-42254400	Weak transcription	Rectal Mucosa Donor 31	rectum

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