Variant report

Variant	nsv1055961
Chromosome Location	chr19:55613727-55644076
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	chr19:55629856-55630090	K562	blood:	n/a	n/a
2	ARID3A	chr19:55629106-55629593	K562	blood:	n/a	n/a
3	ATF1	chr19:55626857-55627175	K562	blood:	n/a	n/a
4	ATF1	chr19:55628911-55629391	K562	blood:	n/a	chr19:55629053-55629067
5	ATF2	chr19:55624942-55625210	GM12878	blood:	n/a	n/a
6	ATF2	chr19:55628982-55629255	GM12878	blood:	n/a	chr19:55629055-55629066 chr19:55629053-55629067
7	ATF2	chr19:55624837-55625344	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr19:55629602-55630252	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr19:55628946-55629375	GM12878	blood:	n/a	chr19:55629055-55629066 chr19:55629053-55629067
10	ATF2	chr19:55624846-55625267	H1-hESC	embryonic stem cell:	n/a	n/a
11	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
12	ATF3	chr19:55627646-55627763	GM12878	blood:	n/a	n/a
13	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
14	ATF3	chr19:55627543-55627968	GM12878	blood:	n/a	n/a
15	ATF3	chr19:55628573-55628824	K562	blood:	n/a	n/a
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	chr19:55627575-55627841	K562	blood:	n/a	n/a
18	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
19	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
20	BACH1	chr19:55629658-55630686	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr19:55629171-55629416	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr19:55629200-55629306	K562	blood:	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	chr19:55628803-55629505	K562	blood:	n/a	n/a
27	BCLAF1	chr19:55628871-55629455	GM12878	blood:	n/a	n/a
28	BCLAF1	chr19:55628961-55629557	GM12878	blood:	n/a	n/a
29	BHLHE40	chr19:55628992-55629322	GM12878	blood:	n/a	n/a
30	BHLHE40	chr19:55624723-55625322	GM12878	blood:	n/a	chr19:55625125-55625134 chr19:55625126-55625135 chr19:55625125-55625134
31	BHLHE40	chr19:55624988-55625316	HepG2	liver:	n/a	chr19:55625125-55625134 chr19:55625126-55625135 chr19:55625125-55625134
32	BHLHE40	chr19:55629971-55630002	K562	blood:	n/a	n/a
33	BHLHE40	chr19:55624344-55624573	K562	blood:	n/a	n/a
34	BHLHE40	chr19:55624973-55625298	A549	lung:	n/a	chr19:55625125-55625134 chr19:55625126-55625135 chr19:55625125-55625134
35	BHLHE40	chr19:55627595-55627916	K562	blood:	n/a	n/a
36	BHLHE40	chr19:55624928-55625328	K562	blood:	n/a	chr19:55625125-55625134 chr19:55625126-55625135 chr19:55625125-55625134
37	BHLHE40	chr19:55629045-55629358	K562	blood:	n/a	n/a
38	BRCA1	chr19:55628922-55629412	Hela-S3	cervix:	n/a	n/a
39	BRCA1	chr19:55629059-55629356	HepG2	liver:	n/a	n/a
40	CBX3	chr19:55628948-55629498	K562	blood:	n/a	n/a
41	CBX3	chr19:55624180-55624628	K562	blood:	n/a	n/a
42	CBX3	chr19:55629695-55630281	K562	blood:	n/a	n/a
43	CCNT2	chr19:55628590-55629357	K562	blood:	n/a	n/a
44	CEBPB	chr19:55628981-55629576	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr19:55616898-55617076	K562	blood:	n/a	n/a
46	CEBPB	chr19:55629119-55629278	K562	blood:	n/a	n/a
47	CEBPB	chr19:55629982-55630090	K562	blood:	n/a	n/a
48	CEBPB	chr19:55642601-55642983	IMR90	lung:	n/a	n/a
49	CEBPB	chr19:55633927-55634176	A549	lung:	n/a	chr19:55634071-55634082
50	CEBPB	chr19:55633930-55634126	H1-hESC	embryonic stem cell:	n/a	chr19:55634071-55634082

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:55629097-55629147	NT2-D1	testis:	n/a
2	chr19:55631754-55631804	HCPEpiC	choroid plexus:	n/a
3	chr19:55629097-55629147	NT2-D1	testis:	n/a
4	chr19:55631754-55631804	HCPEpiC	choroid plexus:	n/a
5	chr19:55630001-55630051	IMR90	lung:	fetal
6	chr19:55629304-55629354	SK-N-MC	brain:	n/a
7	chr19:55629279-55629329	HL-60	blood:	n/a
8	chr19:55628995-55629045	HPAEpiC	pulmonary alveolar:	n/a
9	chr19:55631754-55631804	HL-60	blood:	n/a
10	chr19:55629097-55629147	ProgFib	skin:	n/a
11	chr19:55627728-55627778	HCT-116	colon:	n/a
12	chr19:55629104-55629154	HCT-116	colon:	n/a
13	chr19:55629097-55629147	AoSMC	blood vessel:	n/a
14	chr19:55628995-55629045	PANC-1	pancreas:	n/a
15	chr19:55628611-55628661	NHBE	bronchial:	n/a
16	chr19:55628998-55629048	PANC-1	pancreas:	n/a
17	chr19:55630001-55630051	AG04449	skin:	fetal
18	chr19:55629104-55629154	CMK	blood:	n/a
19	chr19:55629097-55629147	AG04450	lung:	fetal
20	chr19:55629097-55629147	K562	blood:	n/a
21	chr19:55631754-55631804	BE2_C	brain:	n/a
22	chr19:55631754-55631804	NHDF-neo	bronchial:	n/a
23	chr19:55629104-55629154	PFSK-1	brain:	n/a
24	chr19:55629304-55629354	AG10803	skin:	n/a
25	chr19:55627728-55627778	AG09319	gingival:	n/a
26	chr19:55628998-55629048	HNPCEpiC	eye:	n/a
27	chr19:55630336-55630386	HIPEpiC	eye:	n/a
28	chr19:55628998-55629048	SAEC	small airway:	n/a
29	chr19:55628570-55628620	NB4	blood:	n/a
30	chr19:55630336-55630386	A549	lung:	n/a
31	chr19:55627738-55627788	AG04449	skin:	fetal
32	chr19:55627738-55627788	GM12892	blood:	n/a
33	chr19:55630336-55630386	SK-N-SH	brain:	n/a
34	chr19:55628998-55629048	SK-N-SH	brain:	n/a
35	chr19:55629304-55629354	BJ	skin:	n/a
36	chr19:55628570-55628620	Hepatocyte	liver:	n/a
37	chr19:55625184-55625234	HNPCEpiC	eye:	n/a
38	chr19:55627728-55627778	RPTEC	kidney:	n/a
39	chr19:55627738-55627788	LNCaP	prostate:	n/a
40	chr19:55628998-55629048	PFSK-1	brain:	n/a
41	chr19:55628611-55628661	SK-N-MC	brain:	n/a
42	chr19:55629097-55629147	HUVEC	blood vessel:	n/a
43	chr19:55627738-55627788	HUVEC	blood vessel:	n/a
44	chr19:55629104-55629154	SK-N-SH_RA	brain:	n/a
45	chr19:55627728-55627778	ProgFib	skin:	n/a
46	chr19:55628995-55629045	HMEC	breast:	n/a
47	chr19:55628611-55628661	HEEpiC	esophagus:	n/a
48	chr19:55628998-55629048	HAEpiC	amniotic membrane:	n/a
49	chr19:55630336-55630386	AG10803	skin:	n/a
50	chr19:55629097-55629147	Hela-S3	cervix:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:55586694..55588416-chr19:55627713..55629753,2	MCF-7	breast:
2	chr19:55628639..55629425-chr3:12882624..12883193,2	Hela-S3	cervix:
3	chr19:55627842..55630893-chr19:56150877..56153462,3	MCF-7	breast:
4	chr19:55641060..55642895-chr19:55643091..55645295,2	K562	blood:
5	chr19:55628556..55629065-chr7:105162615..105163265,2	Hela-S3	cervix:
6	chr19:55623549..55625871-chr19:55627412..55630421,4	K562	blood:
7	chr19:55572074..55574772-chr19:55626716..55630173,3	K562	blood:
8	chr19:55624850..55627348-chr19:55669347..55671433,3	K562	blood:
9	chr19:55611452..55618868-chr19:55626160..55631612,12	K562	blood:
10	chr19:55628447..55630304-chr19:56152037..56154900,2	K562	blood:
11	chr19:55573131..55575554-chr19:55627229..55630312,3	K562	blood:
12	chr19:55621073..55622688-chr19:55622903..55625815,2	K562	blood:
13	chr19:55610882..55614666-chr19:55626430..55628703,3	MCF-7	breast:
14	chr19:55609803..55612898-chr19:55614897..55617724,3	K562	blood:
15	chr19:55627300..55629174-chr19:55643950..55645744,3	MCF-7	breast:
16	chr19:55600794..55602436-chr19:55621159..55622928,2	K562	blood:
17	chr19:55581241..55584202-chr19:55619737..55622678,2	MCF-7	breast:
18	chr19:55624933..55628932-chr19:55685116..55688802,5	K562	blood:
19	chr19:55627278..55631711-chr19:55917816..55921434,6	K562	blood:
20	chr19:55627370..55629030-chr19:55666382..55669249,2	MCF-7	breast:
21	chr19:55628693..55630720-chr19:55630809..55635386,4	K562	blood:
22	chr19:55625250..55627278-chr19:55627441..55628964,2	MCF-7	breast:
23	chr19:55625474..55630122-chr19:55917760..55920694,6	K562	blood:
24	chr12:52447182..52448351-chr19:55628509..55629204,3	Hela-S3	cervix:
25	chr19:55590301..55596157-chr19:55624719..55630906,19	K562	blood:
26	chr19:55592215..55594143-chr19:55627542..55630136,2	MCF-7	breast:
27	chr19:55601384..55605740-chr19:55625589..55630501,6	MCF-7	breast:
28	chr19:55627139..55630124-chr19:55683805..55687284,3	K562	blood:
29	chr19:55619310..55621231-chr19:55766001..55768773,2	K562	blood:
30	chr19:55628586..55629129-chr8:42752124..42752980,2	Hela-S3	cervix:
31	chr19:55619270..55624859-chr19:55625800..55630759,15	MCF-7	breast:
32	chr19:55643804..55646450-chr19:55670003..55671924,2	MCF-7	breast:
33	chr19:55626440..55629266-chr19:55687388..55690294,2	K562	blood:
34	chr19:55627620..55630057-chr19:55971459..55973529,2	MCF-7	breast:
35	chr19:55627863..55630542-chr19:55666165..55668037,2	K562	blood:
36	chr19:55609257..55613232-chr19:55613674..55618222,6	K562	blood:
37	chr19:55628693..55630720-chr19:55630809..55635386,4	K562	blood:
38	chr19:55626838..55628634-chr19:56630662..56632626,2	MCF-7	breast:
39	chr19:55641060..55642895-chr19:55643091..55645295,2	K562	blood:
40	chr19:55626366..55629144-chr19:56151698..56154505,2	MCF-7	breast:
41	chr19:55580586..55583113-chr19:55627733..55630223,2	MCF-7	breast:
42	chr19:55626998..55630422-chr19:55645937..55649783,3	K562	blood:
43	chr19:55597985..55600071-chr19:55626718..55628397,2	K562	blood:
44	chr19:55618775..55620920-chr19:55622936..55624768,2	K562	blood:
45	chr19:55589341..55594280-chr19:55623400..55630615,14	K562	blood:
46	chr19:55619465..55621208-chr19:55622732..55625185,3	MCF-7	breast:
47	chr19:55627388..55630131-chr19:55656157..55658314,2	MCF-7	breast:
48	chr19:55627369..55630419-chr19:55655174..55659516,5	K562	blood:
49	chr19:55628693..55631230-chr19:55631667..55634541,2	K562	blood:
50	chr19:55618775..55620920-chr19:55622936..55624768,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP1R12C-1	chr19:55631695-55631751	NONHSAT067994
2	lnc-PPP1R12C-1	chr19:55631076-55631373	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
ENSG00000105063	chromatin interactions
ENSG00000213015	chromatin interactions
ENSG00000108107	chromatin interactions
ENSG00000267577	chromatin interactions
ENSG00000105048	chromatin interactions
ENSG00000167646	chromatin interactions
ENSG00000267507	chromatin interactions
ENSG00000120925	chromatin interactions
ENSG00000167685	chromatin interactions
ENSG00000160439	chromatin interactions
ENSG00000125503	chromatin interactions
ENSG00000108106	chromatin interactions
ENSG00000196233	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000131037	chromatin interactions
ENSG00000233493	chromatin interactions
ENSG00000091127	chromatin interactions
ENSG00000170889	chromatin interactions
ENSG00000129991	chromatin interactions
ENSG00000063244	chromatin interactions
ENSG00000100664	chromatin interactions
ENSG00000129990	chromatin interactions
ENSG00000223660	chromatin interactions
ENSG00000144713	chromatin interactions
ENSG00000063241	chromatin interactions
ENSG00000171425	chromatin interactions
ENSG00000142409	chromatin interactions
ENSG00000173581	chromatin interactions

Extended variants
information (count: 1405 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1405 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8109370	chr19:55613727-55613728	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184742310	chr19:55613728-55613729	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs369006313	chr19:55613762-55613763	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs187939520	chr19:55613775-55613776	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs542170084	chr19:55613820-55613821	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs543539045	chr19:55613824-55613825	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs374589517	chr19:55613866-55613867	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs570634607	chr19:55613867-55613868	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs368951220	chr19:55613869-55613870	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs542610632	chr19:55613965-55613966	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs146426292	chr19:55614011-55614012	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs559698063	chr19:55614067-55614068	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs192692037	chr19:55614070-55614071	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs551384529	chr19:55614119-55614120	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs142665039	chr19:55614134-55614135	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs117347377	chr19:55614138-55614139	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs184537123	chr19:55614141-55614142	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs540683951	chr19:55614142-55614143	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs567392136	chr19:55614176-55614177	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs146903654	chr19:55614178-55614179	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs117031942	chr19:55614195-55614196	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs138736403	chr19:55614244-55614245	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs538992956	chr19:55614246-55614247	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs558971704	chr19:55614253-55614254	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs374122427	chr19:55614310-55614311	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs148924911	chr19:55614343-55614344	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs143636944	chr19:55614344-55614345	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs148119143	chr19:55614367-55614368	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs573739697	chr19:55614368-55614369	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs11673435	chr19:55614395-55614396	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs553052687	chr19:55614406-55614407	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs141866909	chr19:55614416-55614417	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs545318340	chr19:55614420-55614421	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs565009180	chr19:55614425-55614426	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs574466386	chr19:55614433-55614434	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs376910868	chr19:55614462-55614463	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs138011996	chr19:55614466-55614467	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs530089197	chr19:55614474-55614475	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs34410551	chr19:55614485-55614486	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs546684642	chr19:55614501-55614502	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs566566907	chr19:55614502-55614503	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs376755672	chr19:55614527-55614528	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs10401227	chr19:55614574-55614575	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs189764896	chr19:55614580-55614581	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs142707171	chr19:55614582-55614583	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs538443694	chr19:55614606-55614607	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs554820655	chr19:55614620-55614621	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs568668912	chr19:55614644-55614645	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs146026709	chr19:55614663-55614664	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs372916410	chr19:55614671-55614672	ZNF genes & repeats Weak transcription Strong transcription	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:1488 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55593800-55620400	Weak transcription	HMEC	breast
2	chr19:55599200-55626600	Weak transcription	Fetal Kidney	kidney
3	chr19:55599200-55627200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:55599400-55614800	Weak transcription	GM12878-XiMat	blood
5	chr19:55599800-55626000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr19:55600000-55613800	Weak transcription	NH-A	brain
7	chr19:55600000-55614600	Weak transcription	HSMM	muscle
8	chr19:55600000-55626600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr19:55600000-55627000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr19:55600200-55614600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr19:55600600-55614600	Weak transcription	HUVEC	blood vessel
12	chr19:55601400-55626400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:55602000-55613800	Strong transcription	Gastric	stomach
14	chr19:55602000-55615400	Strong transcription	Lung	lung
15	chr19:55602000-55618400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr19:55602800-55614200	Weak transcription	Psoas Muscle	Psoas
17	chr19:55602800-55626400	Weak transcription	Hela-S3	cervix
18	chr19:55605600-55614400	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr19:55606400-55613800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr19:55606400-55621600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr19:55606600-55614000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr19:55606600-55614200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr19:55606600-55627200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr19:55606800-55613800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr19:55607000-55614800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr19:55607600-55624200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr19:55607800-55614800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr19:55609000-55613800	Strong transcription	Pancreas	Pancrea
29	chr19:55609000-55614200	Strong transcription	Fetal Stomach	stomach
30	chr19:55609000-55614400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:55609000-55614600	Strong transcription	Adipose Nuclei	Adipose
32	chr19:55609000-55614800	Strong transcription	Esophagus	oesophagus
33	chr19:55609000-55616000	Strong transcription	Colon Smooth Muscle	Colon
34	chr19:55609000-55618400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr19:55609200-55614000	Strong transcription	Fetal Brain Female	brain
36	chr19:55609200-55615000	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr19:55609200-55615200	Strong transcription	Duodenum Mucosa	Duodenum
38	chr19:55609200-55615200	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr19:55609400-55614400	Strong transcription	Fetal Intestine Small	intestine
40	chr19:55609400-55614600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr19:55609400-55614600	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr19:55609400-55614600	Strong transcription	Fetal Intestine Large	intestine
43	chr19:55609400-55614600	Strong transcription	Thymus	Thymus
44	chr19:55609400-55614800	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr19:55609400-55614800	Strong transcription	Fetal Thymus	thymus
46	chr19:55609400-55615200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr19:55609400-55615200	Strong transcription	Liver	Liver
48	chr19:55609400-55618400	Strong transcription	Dnd41	blood
49	chr19:55609600-55614600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr19:55609600-55614600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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