Variant report

Variant	esv3331653
Chromosome Location	chr19:56631165-56634013
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	chr19:56632736-56633711	K562	blood:	n/a	n/a
2	ARID3A	chr19:56631716-56632120	HepG2	liver:	n/a	n/a
3	ARID3A	chr19:56632572-56633230	HepG2	liver:	n/a	n/a
4	ATF2	chr19:56632622-56632975	GM12878	blood:	n/a	n/a
5	ATF3	chr19:56632651-56633374	A549	lung:	n/a	chr19:56632684-56632693 chr19:56632871-56632880 chr19:56632892-56632901
6	ATF3	chr19:56632520-56633279	A549	lung:	n/a	chr19:56632684-56632693 chr19:56632558-56632567 chr19:56632871-56632880 chr19:56632892-56632901 chr19:56632522-56632531
7	BACH1	chr19:56631728-56632034	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL3	chr19:56631575-56632169	A549	lung:	n/a	chr19:56632123-56632132 chr19:56632006-56632019
9	BCL3	chr19:56632489-56633376	A549	lung:	n/a	chr19:56632557-56632566 chr19:56632602-56632615 chr19:56632821-56632830 chr19:56632551-56632564 chr19:56632521-56632530 chr19:56632656-56632665 chr19:56632825-56632834 chr19:56632560-56632573 chr19:56632555-56632568 chr19:56632686-56632699
10	BCLAF1	chr19:56632507-56633421	GM12878	blood:	n/a	chr19:56632557-56632566 chr19:56632602-56632615 chr19:56632821-56632830 chr19:56632551-56632564 chr19:56632521-56632530 chr19:56632656-56632665 chr19:56632825-56632834 chr19:56632560-56632573 chr19:56632555-56632568 chr19:56632686-56632699
11	BCLAF1	chr19:56631751-56632215	GM12878	blood:	n/a	chr19:56632123-56632132 chr19:56632006-56632019
12	BCLAF1	chr19:56632504-56633296	GM12878	blood:	n/a	chr19:56632557-56632566 chr19:56632602-56632615 chr19:56632821-56632830 chr19:56632551-56632564 chr19:56632521-56632530 chr19:56632656-56632665 chr19:56632825-56632834 chr19:56632560-56632573 chr19:56632555-56632568 chr19:56632686-56632699
13	BCLAF1	chr19:56632504-56633296	K562	blood:	n/a	chr19:56632557-56632566 chr19:56632602-56632615 chr19:56632821-56632830 chr19:56632551-56632564 chr19:56632521-56632530 chr19:56632656-56632665 chr19:56632825-56632834 chr19:56632560-56632573 chr19:56632555-56632568 chr19:56632686-56632699
14	BHLHE40	chr19:56632672-56633486	K562	blood:	n/a	n/a
15	BHLHE40	chr19:56632631-56633273	GM12878	blood:	n/a	n/a
16	BHLHE40	chr19:56631633-56632084	K562	blood:	n/a	n/a
17	BHLHE40	chr19:56631860-56632211	GM12878	blood:	n/a	chr19:56632182-56632198
18	BHLHE40	chr19:56632870-56633045	A549	lung:	n/a	n/a
19	BRCA1	chr19:56631785-56632054	HepG2	liver:	n/a	n/a
20	BRCA1	chr19:56633025-56633225	HepG2	liver:	n/a	n/a
21	BRCA1	chr19:56632883-56633302	H1-hESC	embryonic stem cell:	n/a	n/a
22	BRCA1	chr19:56631952-56632067	GM12878	blood:	n/a	n/a
23	BRCA1	chr19:56632692-56633225	Hela-S3	cervix:	n/a	n/a
24	CBX3	chr19:56632589-56633399	K562	blood:	n/a	n/a
25	CBX3	chr19:56631613-56632021	K562	blood:	n/a	n/a
26	CCNT2	chr19:56631720-56633541	K562	blood:	n/a	chr19:56632004-56632013 chr19:56632528-56632537 chr19:56632892-56632901 chr19:56632522-56632531 chr19:56632174-56632183
27	CEBPB	chr19:56632677-56633327	Hela-S3	cervix:	n/a	n/a
28	CEBPD	chr19:56632556-56632931	HepG2	liver:	n/a	n/a
29	CEBPD	chr19:56630899-56631305	K562	blood:	n/a	n/a
30	CEBPD	chr19:56631587-56633174	HepG2	liver:	n/a	n/a
31	CEBPD	chr19:56632518-56633253	K562	blood:	n/a	n/a
32	CEBPD	chr19:56631594-56633204	K562	blood:	n/a	n/a
33	CHD1	chr19:56631720-56632189	GM12878	blood:	n/a	n/a
34	CHD1	chr19:56630697-56633691	IMR90	lung:	n/a	chr19:56632691-56632701 chr19:56632869-56632879 chr19:56632983-56632993
35	CHD1	chr19:56631935-56632114	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD1	chr19:56633022-56633280	GM12878	blood:	n/a	n/a
37	CHD2	chr19:56631765-56632225	GM12878	blood:	n/a	n/a
38	CHD2	chr19:56631717-56632175	K562	blood:	n/a	n/a
39	CHD2	chr19:56632578-56633300	HepG2	liver:	n/a	chr19:56632691-56632701 chr19:56632869-56632879 chr19:56632983-56632993
40	CHD2	chr19:56632629-56633526	K562	blood:	n/a	chr19:56632691-56632701 chr19:56632869-56632879 chr19:56632983-56632993
41	CHD2	chr19:56631533-56632204	Hela-S3	cervix:	n/a	n/a
42	CHD2	chr19:56631957-56632160	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr19:56632430-56633284	Hela-S3	cervix:	n/a	chr19:56632691-56632701 chr19:56632869-56632879 chr19:56632983-56632993
44	CHD2	chr19:56632591-56633283	H1-hESC	embryonic stem cell:	n/a	chr19:56632691-56632701 chr19:56632869-56632879 chr19:56632983-56632993
45	CHD2	chr19:56631642-56632152	HepG2	liver:	n/a	n/a
46	CHD2	chr19:56632552-56633416	GM12878	blood:	n/a	chr19:56632691-56632701 chr19:56632869-56632879 chr19:56632983-56632993
47	CREB1	chr19:56632236-56633086	K562	blood:	n/a	n/a
48	CREB1	chr19:56632531-56633285	H1-hESC	embryonic stem cell:	n/a	n/a
49	CREB1	chr19:56631433-56633296	A549	lung:	n/a	n/a
50	CREB1	chr19:56632534-56633225	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56632673-56632723	H1-hESC	embryonic stem cell:	embryo
2	chr19:56632808-56632858	HCM	heart:	n/a
3	chr19:56631888-56631938	GM12892	blood:	n/a
4	chr19:56631888-56631938	SKMC	muscle:	n/a
5	chr19:56631888-56631938	HIPEpiC	eye:	n/a
6	chr19:56633048-56633098	HCM	heart:	n/a
7	chr19:56633191-56633241	SAEC	small airway:	n/a
8	chr19:56633048-56633098	ProgFib	skin:	n/a
9	chr19:56633104-56633154	HMEC	breast:	n/a
10	chr19:56633191-56633241	HEEpiC	esophagus:	n/a
11	chr19:56632869-56632919	HCT-116	colon:	n/a
12	chr19:56633048-56633098	U87	brain:	n/a
13	chr19:56633191-56633241	GM12891	blood:	n/a
14	chr19:56632746-56632796	PANC-1	pancreas:	n/a
15	chr19:56632673-56632723	HMEC	breast:	n/a
16	chr19:56631888-56631938	HMEC	breast:	n/a
17	chr19:56633104-56633154	HIPEpiC	eye:	n/a
18	chr19:56633048-56633098	BE2_C	brain:	n/a
19	chr19:56631288-56631338	NB4	blood:	n/a
20	chr19:56632673-56632723	AG04450	lung:	fetal
21	chr19:56632746-56632796	ECC-1	luminal epithelium:	n/a
22	chr19:56633104-56633154	AG10803	skin:	n/a
23	chr19:56631888-56631938	Caco-2	colon:	n/a
24	chr19:56633191-56633241	ProgFib	skin:	n/a
25	chr19:56632869-56632919	SKMC	muscle:	n/a
26	chr19:56631888-56631938	ECC-1	luminal epithelium:	n/a
27	chr19:56632869-56632919	T-47D	breast:	n/a
28	chr19:56632673-56632723	PANC-1	pancreas:	n/a
29	chr19:56632808-56632858	AG10803	skin:	n/a
30	chr19:56633048-56633098	HCF	heart:	n/a
31	chr19:56632869-56632919	HEK293	kidney:	embryo
32	chr19:56632673-56632723	AG09319	gingival:	n/a
33	chr19:56631888-56631938	NHDF-neo	bronchial:	n/a
34	chr19:56633048-56633098	T-47D	breast:	n/a
35	chr19:56632869-56632919	A549	lung:	n/a
36	chr19:56633191-56633241	NT2-D1	testis:	n/a
37	chr19:56631288-56631338	ProgFib	skin:	n/a
38	chr19:56633104-56633154	HepG2	liver:	n/a
39	chr19:56632746-56632796	U87	brain:	n/a
40	chr19:56633191-56633241	HUVEC	blood vessel:	n/a
41	chr19:56633048-56633098	GM06990	blood:	n/a
42	chr19:56632869-56632919	Hela-S3	cervix:	n/a
43	chr19:56632869-56632919	AG10803	skin:	n/a
44	chr19:56633104-56633154	HCPEpiC	choroid plexus:	n/a
45	chr19:56633048-56633098	GM12892	blood:	n/a
46	chr19:56631288-56631338	MCF10A-Er-Src	breast:	n/a
47	chr19:56633191-56633241	Hela-S3	cervix:	n/a
48	chr19:56632746-56632796	SKMC	muscle:	n/a
49	chr19:56633048-56633098	IMR90	lung:	fetal
50	chr19:56632869-56632919	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:56632611..56633416-chr20:43976520..43977189,2	Hela-S3	cervix:
2	chr19:56632137..56632836-chr3:128902622..128903215,2	Hela-S3	cervix:
3	chr19:56629593..56636020-chr19:56650029..56654099,17	K562	blood:
4	chr19:56627257..56634581-chr19:56650310..56656612,28	MCF-7	breast:
5	chr19:56630318..56632496-chr21:46494292..46496510,2	K562	blood:
6	chr19:56630391..56632820-chr19:56902199..56906311,3	K562	blood:
7	chr19:56629557..56632352-chr19:56654228..56656025,2	K562	blood:
8	chr19:56630391..56632820-chr19:56902199..56904998,2	K562	blood:
9	chr19:56630500..56632010-chr19:56658354..56660515,2	MCF-7	breast:
10	chr17:41150376..41150927-chr19:56632321..56632951,2	Hela-S3	cervix:
11	chr19:56629015..56635457-chr19:56649954..56657591,25	MCF-7	breast:
12	chr19:56631390..56634909-chr19:56825062..56827444,3	MCF-7	breast:
13	chr19:56630861..56631692-chr2:122288387..122288901,2	HCT-116	colon:
14	chr19:56632216..56633155-chr19:56652902..56653633,2	K562	blood:
15	chr14:90422308..90422816-chr19:56631324..56632109,2	Hela-S3	cervix:
16	chr19:56631557..56632388-chr22:32145652..32146286,2	Hela-S3	cervix:
17	chr19:56629593..56635165-chr19:56650391..56656450,20	K562	blood:
18	chr10:126479978..126480551-chr19:56631808..56632649,2	Hela-S3	cervix:
19	chr19:56629872..56632038-chr19:56819906..56821500,2	MCF-7	breast:
20	chr19:56164264..56167135-chr19:56631802..56633967,4	K562	blood:
21	chr19:56631772..56632381-chr3:136580872..136581456,2	Hela-S3	cervix:
22	chr19:56631872..56632543-chr9:102669033..102669852,2	Hela-S3	cervix:
23	chr19:55626838..55628634-chr19:56630662..56632626,2	MCF-7	breast:
24	chr19:56605498..56607205-chr19:56630684..56632400,2	K562	blood:
25	chr19:56154949..56157092-chr19:56632186..56634615,2	K562	blood:
26	chr15:83478077..83478694-chr19:56632004..56632840,2	Hela-S3	cervix:
27	chr19:56629946..56632652-chr19:56657182..56659175,2	K562	blood:
28	chr19:56629808..56631953-chr19:56643126..56645330,2	K562	blood:
29	chr1:113162443..113163296-chr19:56631885..56632717,2	Hela-S3	cervix:
30	chr19:56631391..56633030-chr19:56824712..56827583,2	K562	blood:
31	chr19:56632300..56632847-chr7:86781637..86782157,2	Hela-S3	cervix:
32	chr19:56165463..56168899-chr19:56631045..56633379,3	K562	blood:
33	chr19:56631659..56633594-chr19:56825559..56827609,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF444-1	chr19:56633053-56633087	XLOC_013164

Variant related genes	Relation type
ZNF787	TF binding region
ZNF787	CpG island
ENSG00000267454	chromatin interactions
ENSG00000203791	chromatin interactions
ENSG00000125503	chromatin interactions
ENSG00000124145	chromatin interactions
ENSG00000267549	chromatin interactions
ENSG00000063244	chromatin interactions
ENSG00000169714	chromatin interactions
ENSG00000116489	chromatin interactions
ENSG00000042088	chromatin interactions
ENSG00000131469	chromatin interactions
ENSG00000135164	chromatin interactions
ENSG00000258539	chromatin interactions
ENSG00000167685	chromatin interactions
ENSG00000224046	chromatin interactions
ENSG00000197381	chromatin interactions
ENSG00000131848	chromatin interactions
ENSG00000264229	chromatin interactions
ENSG00000171425	chromatin interactions
ENSG00000156232	chromatin interactions
ENSG00000183530	chromatin interactions
ENSG00000158092	chromatin interactions
ENSG00000239213	chromatin interactions
ENSG00000018869	chromatin interactions

Extended variants
information (count: 111 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76878584	chr19:56631199-56631200	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs550575862	chr19:56631208-56631209	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs73934684	chr19:56631221-56631222	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs578991	chr19:56631228-56631229	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs553124530	chr19:56631241-56631242	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs146231989	chr19:56631281-56631282	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs538717456	chr19:56631288-56631289	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs558718350	chr19:56631316-56631317	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs8103672	chr19:56631317-56631318	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs544216176	chr19:56631319-56631320	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs11436180	chr19:56631346-56631347	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs397949131	chr19:56631349-56631350	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs371021793	chr19:56631350-56631351	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs578069	chr19:56631356-56631357	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs189936303	chr19:56631400-56631401	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs560731189	chr19:56631423-56631424	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs74734888	chr19:56631435-56631436	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs541240646	chr19:56631452-56631453	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs552220730	chr19:56631479-56631480	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs139298318	chr19:56631487-56631488	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs531554085	chr19:56631524-56631525	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs35559126	chr19:56631543-56631544	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs548080150	chr19:56631545-56631546	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs370464774	chr19:56631546-56631547	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs573092016	chr19:56631624-56631625	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs548576383	chr19:56631636-56631637	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs567034406	chr19:56631654-56631655	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs529999050	chr19:56631726-56631727	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs183434569	chr19:56631756-56631757	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs115685555	chr19:56631768-56631769	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs538851784	chr19:56631779-56631780	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs144122790	chr19:56631799-56631800	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs568975614	chr19:56631843-56631844	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs376180099	chr19:56631846-56631847	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
35	rs554538017	chr19:56631930-56631931	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
36	rs574394484	chr19:56631974-56631975	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
37	rs371132085	chr19:56632001-56632002	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
38	rs540896757	chr19:56632014-56632015	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
39	rs62120760	chr19:56632025-56632026	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
40	rs576996821	chr19:56632082-56632083	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
41	rs545992326	chr19:56632115-56632116	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
42	rs562605414	chr19:56632129-56632130	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
43	rs531682864	chr19:56632146-56632147	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
44	rs188835769	chr19:56632277-56632278	Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
45	rs524988	chr19:56632532-56632533	Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs527720037	chr19:56632561-56632562	Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
47	rs10418700	chr19:56632583-56632584	Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
48	rs566793461	chr19:56632589-56632590	Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
49	rs532298343	chr19:56632598-56632599	Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
50	rs552409472	chr19:56632601-56632602	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
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
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD

Chromatin state (count:523 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56593000-56631200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:56623000-56631400	Genic enhancers	Spleen	Spleen
3	chr19:56624200-56631800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:56624600-56631200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr19:56625400-56631200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr19:56628000-56631200	Genic enhancers	Fetal Stomach	stomach
7	chr19:56628000-56631600	Enhancers	Primary T cells fromperipheralblood	blood
8	chr19:56628200-56631200	Enhancers	Esophagus	oesophagus
9	chr19:56628200-56631400	Genic enhancers	Primary B cells from peripheral blood	blood
10	chr19:56628800-56631400	Enhancers	Lung	lung
11	chr19:56629000-56631200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr19:56629000-56631400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr19:56629200-56631200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr19:56629400-56631200	Enhancers	Fetal Thymus	thymus
15	chr19:56629400-56631800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr19:56629600-56631200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr19:56629800-56631200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr19:56629800-56631200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr19:56629800-56631600	Enhancers	Fetal Heart	heart
20	chr19:56630000-56631200	Enhancers	Brain Substantia Nigra	brain
21	chr19:56630000-56631200	Enhancers	Colon Smooth Muscle	Colon
22	chr19:56630000-56631200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
23	chr19:56630000-56631200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
24	chr19:56630000-56631800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr19:56630000-56631800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr19:56630200-56631200	Enhancers	Fetal Brain Male	brain
27	chr19:56630200-56631200	Enhancers	Fetal Lung	lung
28	chr19:56630200-56631200	Transcr. at gene 5' and 3'	Hela-S3	cervix
29	chr19:56630200-56631400	Enhancers	Thymus	Thymus
30	chr19:56630200-56631600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr19:56630200-56631600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr19:56630200-56631800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr19:56630400-56631200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr19:56630400-56631200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr19:56630400-56631200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr19:56630400-56631200	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr19:56630400-56631200	Flanking Active TSS	Psoas Muscle	Psoas
38	chr19:56630400-56631400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:56630400-56631400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr19:56630400-56631400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
41	chr19:56630400-56631400	Transcr. at gene 5' and 3'	A549	lung
42	chr19:56630400-56631600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr19:56630400-56631600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr19:56630400-56631600	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr19:56630400-56631600	Flanking Active TSS	Liver	Liver
46	chr19:56630400-56631600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr19:56630400-56631600	Flanking Active TSS	Right Ventricle	heart
48	chr19:56630400-56631600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr19:56630400-56631600	Flanking Active TSS	HMEC	breast
50	chr19:56630400-56631800	Flanking Active TSS	Colonic Mucosa	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links