Variant report

Variant	esv1850769
Chromosome Location	chr19:55622909-55641955
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	ARID3A	chr19:55629106-55629593	K562	blood:	n/a	n/a
2	ARID3A	chr19:55629856-55630090	K562	blood:	n/a	n/a
3	ATF1	chr19:55628911-55629391	K562	blood:	n/a	chr19:55629053-55629067
4	ATF1	chr19:55626857-55627175	K562	blood:	n/a	n/a
5	ATF2	chr19:55624837-55625344	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr19:55624846-55625267	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr19:55624942-55625210	GM12878	blood:	n/a	n/a
8	ATF2	chr19:55629602-55630252	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr19:55628982-55629255	GM12878	blood:	n/a	chr19:55629055-55629066 chr19:55629053-55629067
10	ATF2	chr19:55628946-55629375	GM12878	blood:	n/a	chr19:55629055-55629066 chr19:55629053-55629067
11	ATF3	chr19:55627646-55627763	GM12878	blood:	n/a	n/a
12	ATF3	chr19:55628971-55629279	HepG2	liver:	n/a	chr19:55629056-55629076 chr19:55629055-55629066 chr19:55629057-55629067 chr19:55629045-55629065 chr19:55629054-55629067 chr19:55629053-55629068 chr19:55629055-55629068 chr19:55629057-55629067 chr19:55629054-55629064 chr19:55629055-55629066 chr19:55629057-55629065 chr19:55629054-55629067 chr19:55629053-55629066 chr19:55629057-55629064 chr19:55629054-55629065
13	ATF3	chr19:55627575-55627841	K562	blood:	n/a	n/a
14	ATF3	chr19:55627543-55627968	GM12878	blood:	n/a	n/a
15	ATF3	chr19:55628974-55629328	H1-hESC	embryonic stem cell:	n/a	chr19:55629056-55629076 chr19:55629055-55629066 chr19:55629057-55629067 chr19:55629045-55629065 chr19:55629054-55629067 chr19:55629053-55629068 chr19:55629055-55629068 chr19:55629057-55629067 chr19:55629054-55629064 chr19:55629055-55629066 chr19:55629057-55629065 chr19:55629054-55629067 chr19:55629053-55629066 chr19:55629057-55629064 chr19:55629054-55629065
16	ATF3	chr19:55628949-55629373	K562	blood:	n/a	chr19:55629056-55629076 chr19:55629055-55629066 chr19:55629057-55629067 chr19:55629045-55629065 chr19:55629054-55629067 chr19:55629053-55629068 chr19:55629055-55629068 chr19:55629057-55629067 chr19:55629054-55629064 chr19:55629055-55629066 chr19:55629057-55629065 chr19:55629054-55629067 chr19:55629053-55629066 chr19:55629057-55629064 chr19:55629054-55629065
17	ATF3	chr19:55628976-55629390	K562	blood:	n/a	chr19:55629056-55629076 chr19:55629055-55629066 chr19:55629057-55629067 chr19:55629045-55629065 chr19:55629054-55629067 chr19:55629053-55629068 chr19:55629055-55629068 chr19:55629057-55629067 chr19:55629054-55629064 chr19:55629055-55629066 chr19:55629057-55629065 chr19:55629054-55629067 chr19:55629053-55629066 chr19:55629057-55629064 chr19:55629054-55629065
18	ATF3	chr19:55628949-55629430	H1-hESC	embryonic stem cell:	n/a	chr19:55629056-55629076 chr19:55629055-55629066 chr19:55629057-55629067 chr19:55629045-55629065 chr19:55629054-55629067 chr19:55629053-55629068 chr19:55629055-55629068 chr19:55629057-55629067 chr19:55629054-55629064 chr19:55629055-55629066 chr19:55629057-55629065 chr19:55629054-55629067 chr19:55629053-55629066 chr19:55629057-55629064 chr19:55629054-55629065
19	ATF3	chr19:55628573-55628824	K562	blood:	n/a	n/a
20	BACH1	chr19:55629200-55629306	K562	blood:	n/a	n/a
21	BACH1	chr19:55629658-55630686	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr19:55629171-55629416	H1-hESC	embryonic stem cell:	n/a	n/a
23	BCL3	chr19:55629607-55630330	A549	lung:	n/a	chr19:55629967-55629976
24	BCL3	chr19:55628967-55629569	A549	lung:	n/a	n/a
25	BCL3	chr19:55629006-55629597	A549	lung:	n/a	n/a
26	BCLAF1	chr19:55628961-55629557	GM12878	blood:	n/a	n/a
27	BCLAF1	chr19:55628803-55629505	K562	blood:	n/a	n/a
28	BCLAF1	chr19:55628871-55629455	GM12878	blood:	n/a	n/a
29	BHLHE40	chr19:55629045-55629358	K562	blood:	n/a	n/a
30	BHLHE40	chr19:55628992-55629322	GM12878	blood:	n/a	n/a
31	BHLHE40	chr19:55624928-55625328	K562	blood:	n/a	chr19:55625125-55625134 chr19:55625126-55625135 chr19:55625125-55625134
32	BHLHE40	chr19:55624988-55625316	HepG2	liver:	n/a	chr19:55625125-55625134 chr19:55625126-55625135 chr19:55625125-55625134
33	BHLHE40	chr19:55624973-55625298	A549	lung:	n/a	chr19:55625125-55625134 chr19:55625126-55625135 chr19:55625125-55625134
34	BHLHE40	chr19:55627595-55627916	K562	blood:	n/a	n/a
35	BHLHE40	chr19:55629971-55630002	K562	blood:	n/a	n/a
36	BHLHE40	chr19:55624344-55624573	K562	blood:	n/a	n/a
37	BHLHE40	chr19:55624723-55625322	GM12878	blood:	n/a	chr19:55625125-55625134 chr19:55625126-55625135 chr19:55625125-55625134
38	BRCA1	chr19:55629059-55629356	HepG2	liver:	n/a	n/a
39	BRCA1	chr19:55628922-55629412	Hela-S3	cervix:	n/a	n/a
40	CBX3	chr19:55629695-55630281	K562	blood:	n/a	n/a
41	CBX3	chr19:55624180-55624628	K562	blood:	n/a	n/a
42	CBX3	chr19:55628948-55629498	K562	blood:	n/a	n/a
43	CCNT2	chr19:55628590-55629357	K562	blood:	n/a	n/a
44	CEBPB	chr19:55633926-55634234	HepG2	liver:	n/a	chr19:55634071-55634082
45	CEBPB	chr19:55629119-55629278	K562	blood:	n/a	n/a
46	CEBPB	chr19:55641626-55641782	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr19:55633930-55634126	H1-hESC	embryonic stem cell:	n/a	chr19:55634071-55634082
48	CEBPB	chr19:55628981-55629576	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr19:55637845-55638117	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr19:55629982-55630090	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:55628570-55628620	MCF10A-Er-Src	breast:	n/a
2	chr19:55628998-55629048	Caco-2	colon:	n/a
3	chr19:55628570-55628620	MCF10A-Er-Src	breast:	n/a
4	chr19:55628998-55629048	Caco-2	colon:	n/a
5	chr19:55630336-55630386	RPTEC	kidney:	n/a
6	chr19:55629097-55629147	H1-hESC	embryonic stem cell:	embryo
7	chr19:55628998-55629048	Hela-S3	cervix:	n/a
8	chr19:55629104-55629154	MCF10A-Er-Src	breast:	n/a
9	chr19:55629104-55629154	LNCaP	prostate:	n/a
10	chr19:55631754-55631804	HRPEpiC	eye:	n/a
11	chr19:55628611-55628661	MCF-7	breast:	n/a
12	chr19:55630001-55630051	Jurkat	blood:	n/a
13	chr19:55629104-55629154	PrEC	prostate:	n/a
14	chr19:55628611-55628661	BJ	skin:	n/a
15	chr19:55625184-55625234	GM19239	blood:	n/a
16	chr19:55625184-55625234	BJ	skin:	n/a
17	chr19:55629279-55629329	HL-60	blood:	n/a
18	chr19:55629097-55629147	NHDF-neo	bronchial:	n/a
19	chr19:55631754-55631804	HL-60	blood:	n/a
20	chr19:55629104-55629154	AG04450	lung:	fetal
21	chr19:55630336-55630386	HCPEpiC	choroid plexus:	n/a
22	chr19:55628995-55629045	HL-60	blood:	n/a
23	chr19:55628995-55629045	PFSK-1	brain:	n/a
24	chr19:55625184-55625234	HUVEC	blood vessel:	n/a
25	chr19:55631754-55631804	GM06990	blood:	n/a
26	chr19:55625184-55625234	CMK	blood:	n/a
27	chr19:55627728-55627778	AG04450	lung:	fetal
28	chr19:55631754-55631804	AG09309	skin:	n/a
29	chr19:55631754-55631804	ovcar-3	ovarian:	n/a
30	chr19:55631754-55631804	Caco-2	colon:	n/a
31	chr19:55630336-55630386	ECC-1	luminal epithelium:	n/a
32	chr19:55628611-55628661	ECC-1	luminal epithelium:	n/a
33	chr19:55631754-55631804	H1-hESC	embryonic stem cell:	embryo
34	chr19:55627728-55627778	MCF-7	breast:	n/a
35	chr19:55630336-55630386	K562	blood:	n/a
36	chr19:55628611-55628661	AoSMC	blood vessel:	n/a
37	chr19:55629279-55629329	SAEC	small airway:	n/a
38	chr19:55628998-55629048	ECC-1	luminal epithelium:	n/a
39	chr19:55627728-55627778	NH-A	brain:	n/a
40	chr19:55627728-55627778	Caco-2	colon:	n/a
41	chr19:55629279-55629329	HAEpiC	amniotic membrane:	n/a
42	chr19:55629304-55629354	K562	blood:	n/a
43	chr19:55628570-55628620	A549	lung:	n/a
44	chr19:55631754-55631804	HAEpiC	amniotic membrane:	n/a
45	chr19:55629279-55629329	A549	lung:	n/a
46	chr19:55630001-55630051	HepG2	liver:	n/a
47	chr19:55629104-55629154	GM12892	blood:	n/a
48	chr19:55625184-55625234	HPAEpiC	pulmonary alveolar:	n/a
49	chr19:55628611-55628661	AG09319	gingival:	n/a
50	chr19:55629097-55629147	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:55641060..55642895-chr19:55643091..55645295,2	K562	blood:
2	chr19:55624850..55627348-chr19:55669347..55671433,3	K562	blood:
3	chr19:55625250..55627278-chr19:55627441..55628964,2	MCF-7	breast:
4	chr19:55627804..55630494-chr19:55895380..55898353,2	K562	blood:
5	chr19:55628693..55631230-chr19:55631667..55634541,2	K562	blood:
6	chr19:55627388..55630131-chr19:55656157..55658314,2	MCF-7	breast:
7	chr19:55580586..55583113-chr19:55627733..55630223,2	MCF-7	breast:
8	chr19:55628693..55630720-chr19:55630809..55635386,4	K562	blood:
9	chr19:55572074..55574772-chr19:55626716..55630173,3	K562	blood:
10	chr19:55628693..55630720-chr19:55630809..55635386,4	K562	blood:
11	chr12:52447182..52448351-chr19:55628509..55629204,3	Hela-S3	cervix:
12	chr19:55627599..55630640-chr19:55656141..55660358,7	K562	blood:
13	chr19:55627139..55630124-chr19:55683805..55687284,3	K562	blood:
14	chr19:55628586..55629129-chr8:42752124..42752980,2	Hela-S3	cervix:
15	chr19:54703373..54705649-chr19:55627800..55630510,2	K562	blood:
16	chr19:55586694..55588416-chr19:55627713..55629753,2	MCF-7	breast:
17	chr19:55626440..55629266-chr19:55687388..55690294,2	K562	blood:
18	chr19:55627889..55630005-chr19:55651215..55652810,2	K562	blood:
19	chr19:55600794..55602436-chr19:55621159..55622928,2	K562	blood:
20	chr19:55627390..55629908-chr19:55969619..55972403,2	K562	blood:
21	chr19:55627278..55631711-chr19:55917816..55921434,6	K562	blood:
22	chr19:55626998..55630422-chr19:55645937..55649783,3	K562	blood:
23	chr19:55627602..55630542-chr19:55666165..55668443,2	K562	blood:
24	chr19:55625002..55627636-chr19:55639311..55642160,2	K562	blood:
25	chr19:55625002..55627203-chr19:55640660..55642809,2	K562	blood:
26	chr19:55627620..55630057-chr19:55971459..55973529,2	MCF-7	breast:
27	chr19:55628901..55630499-chr19:55635724..55639417,3	K562	blood:
28	chr19:55573131..55575554-chr19:55627229..55630312,3	K562	blood:
29	chr19:55628447..55630304-chr19:56152037..56154900,2	K562	blood:
30	chr19:55626366..55629144-chr19:56151698..56154505,2	MCF-7	breast:
31	chr19:55589341..55594280-chr19:55623400..55630615,14	K562	blood:
32	chr19:55606533..55609893-chr19:55627288..55629671,4	MCF-7	breast:
33	chr19:55627421..55629071-chr19:56166474..56168541,2	MCF-7	breast:
34	chr19:55618775..55620920-chr19:55622936..55624768,2	K562	blood:
35	chr19:55623549..55625871-chr19:55627412..55630421,4	K562	blood:
36	chr19:55619270..55624859-chr19:55625800..55630759,15	MCF-7	breast:
37	chr10:98591605..98592442-chr19:55628620..55629157,2	Hela-S3	cervix:
38	chr19:55628556..55629065-chr7:105162615..105163265,2	Hela-S3	cervix:
39	chr19:55595762..55599604-chr19:55620879..55624420,3	K562	blood:
40	chr19:55624933..55628932-chr19:55685116..55688802,5	K562	blood:
41	chr19:55625474..55630122-chr19:55917760..55920694,6	K562	blood:
42	chr19:55627863..55630542-chr19:55666165..55668037,2	K562	blood:
43	chr19:55628693..55631230-chr19:55631667..55634541,2	K562	blood:
44	chr19:55627388..55629698-chr19:55672061..55673602,2	K562	blood:
45	chr19:55597966..55599485-chr19:55626673..55628218,2	K562	blood:
46	chr19:55592215..55594143-chr19:55627542..55630136,2	MCF-7	breast:
47	chr19:55590301..55596157-chr19:55624719..55630906,19	K562	blood:
48	chr19:55626838..55628634-chr19:56630662..56632626,2	MCF-7	breast:
49	chr19:55626891..55629240-chr19:55658482..55660842,2	MCF-7	breast:
50	chr19:55628639..55629425-chr3:12882624..12883193,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP1R12C-1	chr19:55631076-55631373	NONHSAT067994
2	lnc-PPP1R12C-1	chr19:55631695-55631751	NONHSAT067994
3	lnc-PPP1R12C-1	chr19:55630618-55630750	NONHSAT067994

miRNA name	Chromosome Location	mirBase accession
hsa-miR-7975	chr19:55634593-55634610	MIMAT0031178

Variant related genes	Relation type
ENSG00000267507	TF binding region
PPP1R12C	TF binding region
ENSG00000267507	CpG island
PPP1R12C	CpG island
ENSG00000144713	chromatin interactions
ENSG00000167685	chromatin interactions
ENSG00000170889	chromatin interactions
ENSG00000233493	chromatin interactions
ENSG00000173581	chromatin interactions
ENSG00000267507	chromatin interactions
ENSG00000167646	chromatin interactions
ENSG00000129990	chromatin interactions
ENSG00000108106	chromatin interactions
ENSG00000129991	chromatin interactions
ENSG00000223660	chromatin interactions
ENSG00000063241	chromatin interactions
ENSG00000160439	chromatin interactions
ENSG00000131037	chromatin interactions
ENSG00000213015	chromatin interactions
ENSG00000196233	chromatin interactions
ENSG00000267577	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000108107	chromatin interactions
ENSG00000120925	chromatin interactions
ENSG00000171425	chromatin interactions
ENSG00000105048	chromatin interactions
ENSG00000142409	chromatin interactions
ENSG00000091127	chromatin interactions
ENSG00000125503	chromatin interactions
ENSG00000063244	chromatin interactions

Extended variants
information (count: 879 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:879 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180881180	chr19:55622920-55622921	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs577832017	chr19:55622998-55622999	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs543568824	chr19:55623002-55623003	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs562245259	chr19:55623005-55623006	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs570349305	chr19:55623019-55623020	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs374455701	chr19:55623030-55623031	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs549028988	chr19:55623041-55623042	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs142869344	chr19:55623084-55623085	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs541548740	chr19:55623162-55623163	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs561755042	chr19:55623174-55623175	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs527268646	chr19:55623201-55623202	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs547694405	chr19:55623299-55623300	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs185423350	chr19:55623334-55623335	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs373690706	chr19:55623354-55623355	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs533173209	chr19:55623375-55623376	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs549957510	chr19:55623399-55623400	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs116311770	chr19:55623401-55623402	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs555466496	chr19:55623416-55623417	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs535995180	chr19:55623417-55623418	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs372126909	chr19:55623446-55623447	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs188617600	chr19:55623462-55623463	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs111948319	chr19:55623463-55623464	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs376768431	chr19:55623473-55623474	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs558436264	chr19:55623497-55623498	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs577868716	chr19:55623509-55623510	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs562829948	chr19:55623524-55623525	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs59876929	chr19:55623546-55623547	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs397939945	chr19:55623549-55623550	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs181143913	chr19:55623559-55623560	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs557170868	chr19:55623563-55623564	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs374672127	chr19:55623596-55623597	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs369072181	chr19:55623600-55623601	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs34613384	chr19:55623618-55623619	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs80313268	chr19:55623635-55623636	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs555139461	chr19:55623744-55623745	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs541068471	chr19:55623747-55623748	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs572025522	chr19:55623758-55623759	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs540630506	chr19:55623759-55623760	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs10573756	chr19:55623792-55623793	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs370007115	chr19:55623796-55623797	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs564377931	chr19:55623799-55623800	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs559346687	chr19:55623803-55623804	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs533313689	chr19:55623804-55623805	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs604216	chr19:55623806-55623807	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs371927757	chr19:55623815-55623816	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs143271686	chr19:55623837-55623838	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs147539657	chr19:55623851-55623852	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs116840455	chr19:55623871-55623872	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs374885966	chr19:55623875-55623876	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs530796599	chr19:55623879-55623880	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	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
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20459607	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Lung squamous cell carcinoma	20842114	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	21203850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1018 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55599200-55626600	Weak transcription	Fetal Kidney	kidney
2	chr19:55599200-55627200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:55599800-55626000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr19:55600000-55626600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr19:55600000-55627000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr19:55601400-55626400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr19:55602800-55626400	Weak transcription	Hela-S3	cervix
8	chr19:55606600-55627200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr19:55607600-55624200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr19:55611600-55623000	Weak transcription	Right Atrium	heart
11	chr19:55612000-55623000	Weak transcription	Fetal Heart	heart
12	chr19:55612400-55626200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr19:55613400-55623400	Weak transcription	Small Intestine	intestine
14	chr19:55614800-55626800	Weak transcription	Primary B cells from cord blood	blood
15	chr19:55615000-55624400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:55615000-55624400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr19:55615000-55624400	Weak transcription	Fetal Brain Male	brain
18	chr19:55615000-55625600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr19:55615000-55627200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr19:55615000-55627400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr19:55615200-55623800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:55615200-55624000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:55615200-55624200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr19:55615200-55624400	Weak transcription	Psoas Muscle	Psoas
25	chr19:55615200-55624400	Weak transcription	NH-A	brain
26	chr19:55615200-55624600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:55615200-55624600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr19:55615200-55625000	Weak transcription	HSMM	muscle
29	chr19:55615200-55626600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr19:55615200-55627200	Weak transcription	HSMMtube	muscle
31	chr19:55616200-55623200	Strong transcription	Fetal Stomach	stomach
32	chr19:55618200-55623200	Weak transcription	Ovary	ovary
33	chr19:55618400-55623000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr19:55618400-55624200	Weak transcription	NHDF-Ad	bronchial
35	chr19:55618600-55624200	Weak transcription	Brain Substantia Nigra	brain
36	chr19:55619600-55624000	Strong transcription	Duodenum Mucosa	Duodenum
37	chr19:55619600-55624600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr19:55619600-55624600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr19:55619800-55623000	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr19:55619800-55623400	Strong transcription	Primary T cells from cord blood	blood
41	chr19:55619800-55623600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:55619800-55624800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr19:55619800-55625000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr19:55620000-55623600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr19:55620000-55624200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr19:55620000-55624800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr19:55620200-55623000	Strong transcription	Spleen	Spleen
48	chr19:55620200-55624400	Strong transcription	Fetal Intestine Large	intestine
49	chr19:55620200-55624800	Strong transcription	Thymus	Thymus
50	chr19:55620200-55625000	Strong transcription	Primary neutrophils fromperipheralblood	blood

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