Variant report

Variant	nsv911797
Chromosome Location	chr19:42904653-42906914
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	chr19:42905478-42905731	K562	blood:	n/a	n/a
2	ARID3A	chr19:42905543-42905768	HepG2	liver:	n/a	n/a
3	BACH1	chr19:42906009-42906392	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr19:42904890-42906637	A549	lung:	n/a	n/a
5	BCL3	chr19:42905332-42906631	A549	lung:	n/a	n/a
6	BCL3	chr19:42905879-42906251	GM12878	blood:	n/a	n/a
7	BCLAF1	chr19:42905382-42905834	GM12878	blood:	n/a	n/a
8	BHLHE40	chr19:42906129-42906266	K562	blood:	n/a	n/a
9	BHLHE40	chr19:42905595-42905671	K562	blood:	n/a	n/a
10	BRCA1	chr19:42906228-42906265	GM12878	blood:	n/a	n/a
11	CBX3	chr19:42905995-42906319	K562	blood:	n/a	n/a
12	CCNT2	chr19:42905996-42906282	K562	blood:	n/a	n/a
13	CEBPB	chr19:42905881-42906454	A549	lung:	n/a	n/a
14	CEBPB	chr19:42905986-42906404	MCF-7	breast:	n/a	n/a
15	CEBPB	chr19:42906006-42906338	A549	lung:	n/a	n/a
16	CEBPB	chr19:42905989-42906352	IMR90	lung:	n/a	n/a
17	CEBPB	chr19:42906057-42906275	K562	blood:	n/a	n/a
18	CEBPB	chr19:42906012-42906345	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr19:42906005-42906327	HepG2	liver:	n/a	n/a
20	CEBPB	chr19:42905991-42906334	HepG2	liver:	n/a	n/a
21	CHD2	chr19:42906217-42906220	GM12878	blood:	n/a	n/a
22	CHD2	chr19:42906009-42906166	HepG2	liver:	n/a	n/a
23	CHD2	chr19:42905415-42905719	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr19:42906087-42906207	H1-hESC	embryonic stem cell:	n/a	n/a
25	CREB1	chr19:42905394-42906601	A549	lung:	n/a	n/a
26	CREB1	chr19:42905409-42906429	H1-hESC	embryonic stem cell:	n/a	n/a
27	CREB1	chr19:42905388-42906508	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr19:42905540-42905690	A549	lung:	n/a	chr19:42905618-42905631 chr19:42905611-42905632 chr19:42905622-42905631 chr19:42905619-42905629 chr19:42905616-42905634
29	CTCF	chr19:42905620-42905770	GM12868	blood:	n/a	chr19:42905622-42905631
30	CTCF	chr19:42906080-42906230	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr19:42905520-42905670	HFF-Myc	foreskin:	n/a	chr19:42905618-42905631 chr19:42905611-42905632 chr19:42905622-42905631 chr19:42905619-42905629 chr19:42905616-42905634
32	CTCF	chr19:42906000-42906150	BE2_C	brain:	n/a	n/a
33	CTCF	chr19:42905400-42905550	A549	lung:	n/a	n/a
34	CTCF	chr19:42905560-42905710	RPTEC	kidney:	n/a	chr19:42905618-42905631 chr19:42905611-42905632 chr19:42905622-42905631 chr19:42905619-42905629 chr19:42905616-42905634
35	CTCF	chr19:42906060-42906210	AoAF	blood vessel:	n/a	n/a
36	CTCF	chr19:42905509-42905786	MCF-7	breast:	n/a	chr19:42905618-42905631 chr19:42905611-42905632 chr19:42905622-42905631 chr19:42905619-42905629 chr19:42905616-42905634
37	CTCF	chr19:42905560-42905710	HMF	breast:	n/a	chr19:42905618-42905631 chr19:42905611-42905632 chr19:42905622-42905631 chr19:42905619-42905629 chr19:42905616-42905634
38	CTCF	chr19:42905520-42905764	MCF-7	breast:	n/a	chr19:42905618-42905631 chr19:42905611-42905632 chr19:42905622-42905631 chr19:42905619-42905629 chr19:42905616-42905634
39	CTCF	chr19:42905512-42905776	ProgFib	skin:	n/a	chr19:42905618-42905631 chr19:42905611-42905632 chr19:42905622-42905631 chr19:42905619-42905629 chr19:42905616-42905634
40	CTCF	chr19:42906040-42906190	HBMEC	blood vessel:	n/a	n/a
41	CTCF	chr19:42905540-42905690	HFF-Myc	foreskin:	n/a	chr19:42905618-42905631 chr19:42905611-42905632 chr19:42905622-42905631 chr19:42905619-42905629 chr19:42905616-42905634
42	CTCF	chr19:42905520-42905670	AG10803	skin:	n/a	chr19:42905618-42905631 chr19:42905611-42905632 chr19:42905622-42905631 chr19:42905619-42905629 chr19:42905616-42905634
43	CTCF	chr19:42905600-42905750	AG04450	lung:	n/a	chr19:42905618-42905631 chr19:42905611-42905632 chr19:42905622-42905631 chr19:42905619-42905629 chr19:42905616-42905634
44	CTCF	chr19:42905410-42905809	H1-hESC	embryonic stem cell:	n/a	chr19:42905618-42905631 chr19:42905611-42905632 chr19:42905622-42905631 chr19:42905619-42905629 chr19:42905616-42905634
45	CTCF	chr19:42905511-42905815	A549	lung:	n/a	chr19:42905618-42905631 chr19:42905611-42905632 chr19:42905622-42905631 chr19:42905619-42905629 chr19:42905616-42905634
46	CTCF	chr19:42905540-42905690	GM12864	blood:	n/a	chr19:42905618-42905631 chr19:42905611-42905632 chr19:42905622-42905631 chr19:42905619-42905629 chr19:42905616-42905634
47	CTCF	chr19:42906060-42906210	AG09319	gingival:	n/a	n/a
48	CTCF	chr19:42905505-42905776	HUVEC	blood vessel:	n/a	chr19:42905618-42905631 chr19:42905611-42905632 chr19:42905622-42905631 chr19:42905619-42905629 chr19:42905616-42905634
49	CTCF	chr19:42906060-42906210	HCM	heart:	n/a	n/a
50	CTCF	chr19:42906040-42906190	BJ	skin:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42905978-42906028	BE2_C	brain:	n/a
2	chr19:42905978-42906028	BE2_C	brain:	n/a
3	chr19:42906601-42906651	CMK	blood:	n/a
4	chr19:42905724-42905774	HPAEpiC	pulmonary alveolar:	n/a
5	chr19:42905724-42905774	BJ	skin:	n/a
6	chr19:42905128-42905178	RPTEC	kidney:	n/a
7	chr19:42905978-42906028	HAEpiC	amniotic membrane:	n/a
8	chr19:42905724-42905774	AG04450	lung:	fetal
9	chr19:42905128-42905178	HCT-116	colon:	n/a
10	chr19:42905440-42905490	GM12878	blood:	n/a
11	chr19:42905724-42905774	PrEC	prostate:	n/a
12	chr19:42905128-42905178	HMEC	breast:	n/a
13	chr19:42905128-42905178	PFSK-1	brain:	n/a
14	chr19:42905724-42905774	SK-N-SH	brain:	n/a
15	chr19:42905724-42905774	AoSMC	blood vessel:	n/a
16	chr19:42905724-42905774	GM12878	blood:	n/a
17	chr19:42905440-42905490	GM06990	blood:	n/a
18	chr19:42906601-42906651	HNPCEpiC	eye:	n/a
19	chr19:42905978-42906028	HUVEC	blood vessel:	n/a
20	chr19:42905128-42905178	AG04449	skin:	fetal
21	chr19:42906601-42906651	NHDF-neo	bronchial:	n/a
22	chr19:42905978-42906028	NHBE	bronchial:	n/a
23	chr19:42905978-42906028	GM12878	blood:	n/a
24	chr19:42905128-42905178	CMK	blood:	n/a
25	chr19:42906601-42906651	BE2_C	brain:	n/a
26	chr19:42905440-42905490	HL-60	blood:	n/a
27	chr19:42906601-42906651	NHBE	bronchial:	n/a
28	chr19:42905978-42906028	HRE	kidney:	n/a
29	chr19:42905128-42905178	HCM	heart:	n/a
30	chr19:42905440-42905490	GM19239	blood:	n/a
31	chr19:42905724-42905774	GM19239	blood:	n/a
32	chr19:42905724-42905774	K562	blood:	n/a
33	chr19:42905440-42905490	ProgFib	skin:	n/a
34	chr19:42905128-42905178	AG09319	gingival:	n/a
35	chr19:42906601-42906651	HRE	kidney:	n/a
36	chr19:42905128-42905178	AG09309	skin:	n/a
37	chr19:42906601-42906651	SKMC	muscle:	n/a
38	chr19:42906601-42906651	NT2-D1	testis:	n/a
39	chr19:42905724-42905774	MCF10A-Er-Src	breast:	n/a
40	chr19:42905128-42905178	ovcar-3	ovarian:	n/a
41	chr19:42906601-42906651	AG09309	skin:	n/a
42	chr19:42905440-42905490	NHBE	bronchial:	n/a
43	chr19:42905440-42905490	K562	blood:	n/a
44	chr19:42905440-42905490	H1-hESC	embryonic stem cell:	embryo
45	chr19:42905724-42905774	HCT-116	colon:	n/a
46	chr19:42905978-42906028	CMK	blood:	n/a
47	chr19:42906601-42906651	HRCEpiC	kidney:	n/a
48	chr19:42905440-42905490	ovcar-3	ovarian:	n/a
49	chr19:42905128-42905178	HNPCEpiC	eye:	n/a
50	chr19:42905440-42905490	HAEpiC	amniotic membrane:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:42900633..42903687-chr19:42904617..42908034,6	MCF-7	breast:
2	chr19:42900819..42903655-chr19:42904775..42907143,2	MCF-7	breast:
3	chr19:42895668..42898012-chr19:42901990..42905454,3	K562	blood:
4	chr19:42636919..42637858-chr19:42905037..42905701,9	K562	blood:
5	chr19:42904602..42907517-chr19:42908247..42910710,2	MCF-7	breast:
6	chr19:42903018..42905424-chr19:42908896..42911686,2	MCF-7	breast:
7	chr19:42786293..42789026-chr19:42903312..42906811,3	MCF-7	breast:
8	chr19:42829022..42830328-chr19:42905348..42906313,3	MCF-7	breast:
9	chr19:42583843..42585623-chr19:42905148..42907036,2	MCF-7	breast:
10	chr19:42904315..42908218-chr19:42909528..42916555,10	K562	blood:
11	chr19:42771317..42774035-chr19:42904213..42905727,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC011497.1-2	chr19:42905734-42905799	ENSG00000213904.4

Variant related genes	Relation type
LIPE-AS1	TF binding region
LIPE-AS1	CpG island
ENSG00000266226	chromatin interactions
ENSG00000079435	chromatin interactions
ENSG00000213904	chromatin interactions
ENSG00000079432	chromatin interactions
ENSG00000105429	chromatin interactions
ENSG00000268525	chromatin interactions

Extended variants
information (count: 85 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34950679	chr19:42904653-42904654	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377609266	chr19:42904694-42904695	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs563005027	chr19:42904769-42904770	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs549565410	chr19:42904775-42904776	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs369826277	chr19:42904803-42904804	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs185644536	chr19:42904834-42904835	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs34449004	chr19:42904835-42904836	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs138417729	chr19:42904880-42904881	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs190108125	chr19:42904890-42904891	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs534427430	chr19:42904892-42904893	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs555985861	chr19:42904981-42904982	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs574094651	chr19:42905004-42905005	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs544693317	chr19:42905052-42905053	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs556350392	chr19:42905058-42905059	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs577989560	chr19:42905078-42905079	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs556139650	chr19:42905124-42905125	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs577183829	chr19:42905134-42905135	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs11882107	chr19:42905154-42905155	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs560052444	chr19:42905164-42905165	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs527572330	chr19:42905174-42905175	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs544988487	chr19:42905252-42905253	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs117002420	chr19:42905253-42905254	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs561139865	chr19:42905265-42905266	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs142709638	chr19:42905310-42905311	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs182370375	chr19:42905410-42905411	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs372199790	chr19:42905414-42905415	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs544606589	chr19:42905415-42905416	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs571226857	chr19:42905496-42905497	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs532171782	chr19:42905539-42905540	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs547400418	chr19:42905568-42905569	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs564996154	chr19:42905590-42905591	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs367759836	chr19:42905609-42905610	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs372184958	chr19:42905610-42905611	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs36024215	chr19:42905645-42905646	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs529196566	chr19:42905733-42905734	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs186606298	chr19:42905737-42905738	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
37	rs567854890	chr19:42905739-42905740	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
38	rs113461674	chr19:42905742-42905743	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
39	rs34462078	chr19:42905782-42905783	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
40	rs851304	chr19:42905830-42905831	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs184011567	chr19:42905942-42905943	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs530744411	chr19:42905947-42905948	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs538690370	chr19:42905972-42905973	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs201301144	chr19:42905974-42905975	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs188554466	chr19:42905994-42905995	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs572063779	chr19:42906004-42906005	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs36104839	chr19:42906024-42906025	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs560990701	chr19:42906072-42906073	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs201698347	chr19:42906075-42906076	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs1800537	chr19:42906105-42906106	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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

Chromatin state (count:556 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42901800-42905400	Weak transcription	Aorta	Aorta
2	chr19:42902200-42905000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:42902200-42905000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr19:42902200-42905000	Weak transcription	Fetal Muscle Leg	muscle
5	chr19:42902200-42905200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr19:42902200-42905200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:42902200-42905200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:42902200-42905200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:42902200-42905200	Weak transcription	Primary T cells from cord blood	blood
10	chr19:42902200-42905200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr19:42902200-42905200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr19:42902200-42905200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr19:42902200-42905200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:42902200-42905200	Weak transcription	Fetal Brain Male	brain
15	chr19:42902200-42905200	Weak transcription	Fetal Intestine Large	intestine
16	chr19:42902200-42905200	Weak transcription	Fetal Lung	lung
17	chr19:42902200-42905200	Weak transcription	Fetal Thymus	thymus
18	chr19:42902200-42905200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr19:42902200-42905200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr19:42902200-42905200	Weak transcription	Stomach Mucosa	stomach
21	chr19:42902200-42905400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr19:42902200-42905400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr19:42902200-42905400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr19:42902200-42905400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr19:42902200-42905400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr19:42902200-42905400	Weak transcription	Brain Substantia Nigra	brain
27	chr19:42902200-42905400	Weak transcription	Left Ventricle	heart
28	chr19:42902200-42905400	Weak transcription	Lung	lung
29	chr19:42902200-42905400	Weak transcription	Psoas Muscle	Psoas
30	chr19:42902200-42905400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr19:42902200-42905400	Weak transcription	Right Atrium	heart
32	chr19:42902200-42905400	Weak transcription	HSMM	muscle
33	chr19:42902200-42905400	Weak transcription	HSMMtube	muscle
34	chr19:42902200-42905600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr19:42902200-42905600	Weak transcription	Small Intestine	intestine
36	chr19:42902400-42904800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr19:42902400-42904800	Weak transcription	Primary B cells from cord blood	blood
38	chr19:42902400-42904800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr19:42902400-42904800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr19:42902400-42904800	Weak transcription	Fetal Heart	heart
41	chr19:42902400-42905000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr19:42902400-42905000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr19:42902400-42905000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr19:42902400-42905000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr19:42902400-42905000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr19:42902400-42905000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr19:42902400-42905000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr19:42902400-42905000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr19:42902400-42905000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr19:42902400-42905000	Weak transcription	Fetal Intestine Small	intestine

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