Variant report

Variant	esv3442417
Chromosome Location	chr14:81901624-81904172
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:398)
CpG islands
(count:489)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:398 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:81901267-81902062	K562	blood:	n/a	n/a
2	BACH1	chr14:81901876-81903141	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr14:81902376-81902479	K562	blood:	n/a	n/a
4	BHLHE40	chr14:81901830-81902174	K562	blood:	n/a	n/a
5	CBX3	chr14:81901874-81902282	K562	blood:	n/a	n/a
6	CBX3	chr14:81902846-81903212	K562	blood:	n/a	n/a
7	CCNT2	chr14:81901668-81903078	K562	blood:	n/a	n/a
8	CEBPB	chr14:81903008-81903343	K562	blood:	n/a	chr14:81903180-81903191
9	CEBPB	chr14:81901817-81902216	HepG2	liver:	n/a	n/a
10	CEBPB	chr14:81902083-81902094	A549	lung:	n/a	n/a
11	CEBPB	chr14:81901977-81902229	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr14:81903000-81903340	HepG2	liver:	n/a	chr14:81903180-81903191
13	CEBPB	chr14:81902931-81903467	MCF-7	breast:	n/a	chr14:81903180-81903191
14	CEBPB	chr14:81902725-81903361	Hela-S3	cervix:	n/a	chr14:81903180-81903191
15	CEBPB	chr14:81903009-81903380	K562	blood:	n/a	chr14:81903180-81903191
16	CEBPB	chr14:81901567-81902066	K562	blood:	n/a	n/a
17	CEBPB	chr14:81902992-81903326	H1-hESC	embryonic stem cell:	n/a	chr14:81903180-81903191
18	CEBPB	chr14:81901811-81902480	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr14:81903120-81903237	HepG2	liver:	n/a	chr14:81903180-81903191
20	CEBPD	chr14:81902881-81903233	HepG2	liver:	n/a	n/a
21	CHD1	chr14:81902182-81902276	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD1	chr14:81901618-81901710	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr14:81902949-81903247	HepG2	liver:	n/a	n/a
24	CHD2	chr14:81901883-81903099	Hela-S3	cervix:	n/a	n/a
25	CHD2	chr14:81902713-81903303	K562	blood:	n/a	n/a
26	CHD2	chr14:81901953-81902213	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chr14:81902696-81903133	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr14:81901888-81902427	HepG2	liver:	n/a	n/a
29	CREB1	chr14:81902711-81902963	A549	lung:	n/a	n/a
30	CTCF	chr14:81902360-81902510	HRE	kidney:	n/a	chr14:81902492-81902505
31	CTCF	chr14:81901926-81902081	MCF-7	breast:	n/a	chr14:81901976-81901989
32	CTCF	chr14:81902140-81902290	MCF-7	breast:	n/a	n/a
33	CTCF	chr14:81902260-81902410	HRPEpiC	eye:	n/a	n/a
34	CTCF	chr14:81902000-81902150	MCF-7	breast:	n/a	n/a
35	CTCF	chr14:81902029-81902049	Kidney_OC	kidney:	n/a	n/a
36	CTCF	chr14:81901936-81902059	Hela-S3	cervix:	n/a	chr14:81901976-81901989
37	CTCF	chr14:81901880-81902030	NHDF-neo	bronchial:	n/a	chr14:81901976-81901989
38	CTCF	chr14:81902383-81902618	K562	blood:	n/a	chr14:81902492-81902505 chr14:81902525-81902541 chr14:81902527-81902540
39	CTCF	chr14:81901915-81902028	MCF-7	breast:	n/a	chr14:81901976-81901989
40	CTCF	chr14:81901912-81902105	MCF-7	breast:	n/a	chr14:81901976-81901989
41	CTCF	chr14:81902380-81902530	WERI-Rb-1	eye:	n/a	chr14:81902492-81902505
42	CTCF	chr14:81901960-81902110	SK-N-SH_RA	brain:	n/a	chr14:81901976-81901989
43	CTCF	chr14:81901920-81902070	HEEpiC	esophagus:	n/a	chr14:81901976-81901989
44	CTCF	chr14:81902040-81902190	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr14:81901900-81902050	WERI-Rb-1	eye:	n/a	chr14:81901976-81901989
46	CTCF	chr14:81901980-81902130	HRPEpiC	eye:	n/a	n/a
47	CTCF	chr14:81901940-81902090	GM12865	blood:	n/a	chr14:81901976-81901989
48	CTCF	chr14:81902000-81902150	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr14:81901959-81901999	Gliobla	brain:	n/a	chr14:81901976-81901989
50	CTCF	chr14:81901976-81902070	GM19239	blood:	n/a	chr14:81901976-81901989

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:81902963-81903013	BE2_C	brain:	n/a
2	chr14:81902963-81903013	BE2_C	brain:	n/a
3	chr14:81903146-81903196	AoSMC	blood vessel:	n/a
4	chr14:81902346-81902396	PANC-1	pancreas:	n/a
5	chr14:81902974-81903024	U87	brain:	n/a
6	chr14:81902154-81902204	HepG2	liver:	n/a
7	chr14:81903609-81903659	AG04450	lung:	fetal
8	chr14:81902963-81903013	MCF-7	breast:	n/a
9	chr14:81902736-81902786	PrEC	prostate:	n/a
10	chr14:81902974-81903024	RPTEC	kidney:	n/a
11	chr14:81902736-81902786	NH-A	brain:	n/a
12	chr14:81902736-81902786	SAEC	small airway:	n/a
13	chr14:81903609-81903659	AG09319	gingival:	n/a
14	chr14:81902974-81903024	AG04449	skin:	fetal
15	chr14:81901907-81901957	NT2-D1	testis:	n/a
16	chr14:81903146-81903196	PrEC	prostate:	n/a
17	chr14:81903609-81903659	PFSK-1	brain:	n/a
18	chr14:81903146-81903196	HL-60	blood:	n/a
19	chr14:81902346-81902396	HRE	kidney:	n/a
20	chr14:81902963-81903013	SKMC	muscle:	n/a
21	chr14:81902974-81903024	IMR90	lung:	fetal
22	chr14:81902736-81902786	GM12892	blood:	n/a
23	chr14:81902974-81903024	H1-hESC	embryonic stem cell:	embryo
24	chr14:81903146-81903196	RPTEC	kidney:	n/a
25	chr14:81901907-81901957	NHBE	bronchial:	n/a
26	chr14:81902346-81902396	PrEC	prostate:	n/a
27	chr14:81903146-81903196	NH-A	brain:	n/a
28	chr14:81902963-81903013	PANC-1	pancreas:	n/a
29	chr14:81902346-81902396	SK-N-SH_RA	brain:	n/a
30	chr14:81903609-81903659	Caco-2	colon:	n/a
31	chr14:81903146-81903196	Hela-S3	cervix:	n/a
32	chr14:81902974-81903024	HCM	heart:	n/a
33	chr14:81902974-81903024	PrEC	prostate:	n/a
34	chr14:81902963-81903013	PFSK-1	brain:	n/a
35	chr14:81903609-81903659	MCF10A-Er-Src	breast:	n/a
36	chr14:81902154-81902204	Caco-2	colon:	n/a
37	chr14:81903609-81903659	RPTEC	kidney:	n/a
38	chr14:81902154-81902204	Jurkat	blood:	n/a
39	chr14:81902963-81903013	AG09319	gingival:	n/a
40	chr14:81901907-81901957	GM12878	blood:	n/a
41	chr14:81902963-81903013	GM12891	blood:	n/a
42	chr14:81903146-81903196	U87	brain:	n/a
43	chr14:81902963-81903013	LNCaP	prostate:	n/a
44	chr14:81903146-81903196	Hepatocyte	liver:	n/a
45	chr14:81901907-81901957	MCF-7	breast:	n/a
46	chr14:81902346-81902396	HRPEpiC	eye:	n/a
47	chr14:81903146-81903196	HepG2	liver:	n/a
48	chr14:81903609-81903659	T-47D	breast:	n/a
49	chr14:81902346-81902396	AG09309	skin:	n/a
50	chr14:81902963-81903013	HCT-116	colon:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:81789758..81792094-chr14:81900694..81903096,3	MCF-7	breast:
2	chr14:81866745..81868446-chr14:81903093..81904882,2	K562	blood:
3	chr14:81866819..81868444-chr14:81899264..81901997,2	K562	blood:
4	chr14:81901271..81902197-chr9:83452129..83452649,2	MCF-7	breast:
5	chr14:81768263..81770023-chr14:81899967..81902259,2	K562	blood:
6	chr14:81900832..81903821-chr14:81904078..81906924,3	K562	blood:
7	chr14:81850220..81853055-chr14:81900012..81901931,2	K562	blood:
8	chr14:81684220..81688666-chr14:81897892..81904337,14	K562	blood:
9	chr14:81684709..81688864-chr14:81899235..81906709,16	MCF-7	breast:
10	chr14:81683389..81688783-chr14:81897521..81903580,11	MCF-7	breast:
11	chr14:81684581..81688465-chr14:81899255..81904181,10	K562	blood:
12	chr14:81903553..81905384-chr14:81907954..81910407,2	MCF-7	breast:

No data

Variant related genes	Relation type
STON2	TF binding region
STON2	CpG island
ENSG00000140022	chromatin interactions
ENSG00000165417	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528701187	chr14:81901628-81901629	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs146375710	chr14:81901672-81901673	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs183715252	chr14:81901724-81901725	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs139689398	chr14:81901729-81901730	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs548136034	chr14:81901737-81901738	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs561753414	chr14:81901742-81901743	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs113921561	chr14:81901758-81901759	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs569574767	chr14:81901792-81901793	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs537298833	chr14:81901884-81901885	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs552512493	chr14:81901889-81901890	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs570648075	chr14:81901896-81901897	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs534858224	chr14:81901908-81901909	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs553168598	chr14:81901921-81901922	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs150062502	chr14:81901954-81901955	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs552464201	chr14:81901965-81901966	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs144368239	chr14:81901990-81901991	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs541380895	chr14:81902033-81902034	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs144717535	chr14:81902036-81902037	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs377145967	chr14:81902041-81902042	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs557294891	chr14:81902174-81902175	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs575237070	chr14:81902241-81902242	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs77529834	chr14:81902244-81902245	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs569449278	chr14:81902353-81902354	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs573080683	chr14:81902392-81902393	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs373324240	chr14:81902519-81902520	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs565891885	chr14:81902566-81902567	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs188591949	chr14:81902598-81902599	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs12880820	chr14:81902605-81902606	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs113337213	chr14:81902611-81902612	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs541565135	chr14:81902628-81902629	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs12880961	chr14:81902665-81902666	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs148721148	chr14:81902721-81902722	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs12881002	chr14:81902727-81902728	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs12881325	chr14:81902751-81902752	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs117645122	chr14:81902765-81902766	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs3853423	chr14:81902771-81902772	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs552494126	chr14:81902792-81902793	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs570785808	chr14:81902809-81902810	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs528278233	chr14:81902816-81902817	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs546738622	chr14:81902819-81902820	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs377475720	chr14:81902836-81902837	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs568183273	chr14:81902839-81902840	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs535896259	chr14:81902893-81902894	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs370493052	chr14:81902906-81902907	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs557184085	chr14:81902942-81902943	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs551981494	chr14:81902943-81902944	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs568908899	chr14:81902952-81902953	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs569650951	chr14:81902956-81902957	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs541906695	chr14:81903007-81903008	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs539476903	chr14:81903072-81903073	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:441 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81900000-81901800	Weak transcription	Spleen	Spleen
2	chr14:81900600-81901800	Bivalent Enhancer	Fetal Lung	lung
3	chr14:81900600-81902400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:81900800-81901800	Active TSS	Fetal Brain Male	brain
5	chr14:81900800-81903400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr14:81901000-81901800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:81901000-81901800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:81901000-81901800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:81901000-81901800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:81901000-81902400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr14:81901000-81903000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr14:81901000-81903600	Bivalent/Poised TSS	Fetal Kidney	kidney
13	chr14:81901200-81901800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:81901200-81901800	Flanking Active TSS	NHEK	skin
15	chr14:81901200-81902000	Active TSS	Fetal Brain Female	brain
16	chr14:81901200-81902000	Flanking Active TSS	HMEC	breast
17	chr14:81901200-81902200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:81901200-81902200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:81901200-81902600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr14:81901200-81903200	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr14:81901200-81903600	Active TSS	H9 Cell Line	embryonic stem cell
22	chr14:81901400-81901800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:81901400-81901800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
24	chr14:81901400-81901800	Active TSS	Fetal Muscle Trunk	muscle
25	chr14:81901400-81901800	Active TSS	Ovary	ovary
26	chr14:81901400-81901800	Flanking Active TSS	HepG2	liver
27	chr14:81901400-81902000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
28	chr14:81901400-81902000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr14:81901400-81902000	Flanking Active TSS	Hela-S3	cervix
30	chr14:81901400-81902200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:81901400-81902200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:81901400-81902200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr14:81901400-81902400	Flanking Active TSS	Liver	Liver
34	chr14:81901400-81902400	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
35	chr14:81901400-81902400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
36	chr14:81901400-81903000	Active TSS	Brain Cingulate Gyrus	brain
37	chr14:81901400-81903200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
38	chr14:81901400-81903200	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr14:81901400-81903400	Active TSS	K562	blood
40	chr14:81901400-81903600	Active TSS	Brain Substantia Nigra	brain
41	chr14:81901400-81903600	Active TSS	Right Atrium	heart
42	chr14:81901600-81901800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:81901600-81901800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
44	chr14:81901600-81901800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
45	chr14:81901600-81901800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
46	chr14:81901600-81901800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr14:81901600-81901800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr14:81901600-81901800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
49	chr14:81901600-81901800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
50	chr14:81901600-81901800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links