Variant report

Variant	nsv901645
Chromosome Location	chr14:38051035-38064215
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:988)
CpG islands
(count:1650)
Chromatin interactive
region (count:101)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:988 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:38059293-38059710	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:38055724-38056888	HepG2	liver:	n/a	n/a
3	ARID3A	chr14:38062250-38062328	HepG2	liver:	n/a	n/a
4	ARID3A	chr14:38057217-38058999	HepG2	liver:	n/a	n/a
5	ARID3A	chr14:38062570-38065874	HepG2	liver:	n/a	n/a
6	BACH1	chr14:38055583-38055770	K562	blood:	n/a	n/a
7	BACH1	chr14:38057273-38058078	H1-hESC	embryonic stem cell:	n/a	n/a
8	BHLHE40	chr14:38064034-38064506	K562	blood:	n/a	chr14:38064053-38064069
9	BHLHE40	chr14:38064021-38065888	HepG2	liver:	n/a	chr14:38064929-38064945 chr14:38064053-38064069 chr14:38065568-38065584
10	BHLHE40	chr14:38063300-38063721	HepG2	liver:	n/a	n/a
11	BHLHE40	chr14:38063317-38063788	K562	blood:	n/a	n/a
12	BRCA1	chr14:38063097-38063799	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr14:38064049-38064336	HepG2	liver:	n/a	n/a
14	BRCA1	chr14:38057239-38057644	HepG2	liver:	n/a	n/a
15	CCNT2	chr14:38063667-38064544	K562	blood:	n/a	n/a
16	CEBPB	chr14:38052395-38053418	MCF-7	breast:	n/a	n/a
17	CEBPB	chr14:38055751-38056011	A549	lung:	n/a	chr14:38055886-38055898 chr14:38055919-38055930 chr14:38055919-38055932 chr14:38055920-38055931
18	CEBPB	chr14:38063406-38063894	Hela-S3	cervix:	n/a	chr14:38063618-38063629
19	CEBPB	chr14:38055737-38056070	HepG2	liver:	n/a	chr14:38055886-38055898 chr14:38055919-38055930 chr14:38055919-38055932 chr14:38055920-38055931
20	CEBPB	chr14:38057175-38057605	HepG2	liver:	n/a	chr14:38057227-38057240
21	CEBPB	chr14:38055775-38056080	IMR90	lung:	n/a	chr14:38055886-38055898 chr14:38055919-38055930 chr14:38055919-38055932 chr14:38055920-38055931
22	CEBPB	chr14:38062196-38062366	HepG2	liver:	n/a	n/a
23	CEBPB	chr14:38057036-38057436	H1-hESC	embryonic stem cell:	n/a	chr14:38057227-38057240
24	CEBPD	chr14:38064131-38065690	HepG2	liver:	n/a	n/a
25	CEBPD	chr14:38052481-38053399	HepG2	liver:	n/a	n/a
26	CEBPD	chr14:38056965-38057951	HepG2	liver:	n/a	chr14:38057228-38057239
27	CEBPD	chr14:38063986-38065839	HepG2	liver:	n/a	n/a
28	CHD1	chr14:38057190-38057567	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD1	chr14:38060477-38060869	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD1	chr14:38063425-38063845	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr14:38063491-38065864	HepG2	liver:	n/a	chr14:38065391-38065401
32	CHD2	chr14:38057068-38057327	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr14:38064025-38064563	K562	blood:	n/a	n/a
34	CHD2	chr14:38060672-38060684	HepG2	liver:	n/a	n/a
35	CHD2	chr14:38057043-38058282	HepG2	liver:	n/a	n/a
36	CHD2	chr14:38052636-38052642	HepG2	liver:	n/a	n/a
37	CHD2	chr14:38063370-38063743	Hela-S3	cervix:	n/a	n/a
38	CHD2	chr14:38064019-38065564	Hela-S3	cervix:	n/a	chr14:38065391-38065401
39	CHD2	chr14:38060934-38060995	H1-hESC	embryonic stem cell:	n/a	n/a
40	CREB1	chr14:38057027-38057445	A549	lung:	n/a	n/a
41	CREB1	chr14:38064214-38064654	A549	lung:	n/a	n/a
42	CREB1	chr14:38056672-38058632	HepG2	liver:	n/a	n/a
43	CREB1	chr14:38052797-38053363	A549	lung:	n/a	n/a
44	CREB1	chr14:38063234-38065884	HepG2	liver:	n/a	n/a
45	CREB1	chr14:38057814-38058499	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTBP2	chr14:38057024-38057879	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTBP2	chr14:38060581-38062070	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTBP2	chr14:38052522-38054797	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTBP2	chr14:38063545-38065794	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr14:38063824-38063830	Fibrobl	skin:	n/a	n/a

(count:1650 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:38051289-38051339	U87	brain:	n/a
2	chr14:38053972-38054022	IMR90	lung:	fetal
3	chr14:38052740-38052790	LNCaP	prostate:	n/a
4	chr14:38051289-38051339	U87	brain:	n/a
5	chr14:38053972-38054022	IMR90	lung:	fetal
6	chr14:38052740-38052790	LNCaP	prostate:	n/a
7	chr14:38053378-38053428	ECC-1	luminal epithelium:	n/a
8	chr14:38063564-38063614	AG10803	skin:	n/a
9	chr14:38054759-38054809	ovcar-3	ovarian:	n/a
10	chr14:38053972-38054022	AG04450	lung:	fetal
11	chr14:38063813-38063863	NT2-D1	testis:	n/a
12	chr14:38061988-38062038	MCF-7	breast:	n/a
13	chr14:38054759-38054809	T-47D	breast:	n/a
14	chr14:38061326-38061376	GM19239	blood:	n/a
15	chr14:38054297-38054347	HRE	kidney:	n/a
16	chr14:38052884-38052934	A549	lung:	n/a
17	chr14:38053308-38053358	NB4	blood:	n/a
18	chr14:38061458-38061508	PFSK-1	brain:	n/a
19	chr14:38058243-38058293	RPTEC	kidney:	n/a
20	chr14:38064112-38064162	CMK	blood:	n/a
21	chr14:38058639-38058689	U87	brain:	n/a
22	chr14:38053972-38054022	MCF-7	breast:	n/a
23	chr14:38063564-38063614	CMK	blood:	n/a
24	chr14:38054297-38054347	HCT-116	colon:	n/a
25	chr14:38057893-38057943	Caco-2	colon:	n/a
26	chr14:38060564-38060614	HEK293	kidney:	embryo
27	chr14:38053599-38053649	HMEC	breast:	n/a
28	chr14:38057472-38057522	HCPEpiC	choroid plexus:	n/a
29	chr14:38053378-38053428	K562	blood:	n/a
30	chr14:38064112-38064162	HCT-116	colon:	n/a
31	chr14:38053308-38053358	MCF-7	breast:	n/a
32	chr14:38060564-38060614	AG10803	skin:	n/a
33	chr14:38063564-38063614	HRCEpiC	kidney:	n/a
34	chr14:38053972-38054022	Caco-2	colon:	n/a
35	chr14:38058639-38058689	NB4	blood:	n/a
36	chr14:38057893-38057943	PFSK-1	brain:	n/a
37	chr14:38057893-38057943	A549	lung:	n/a
38	chr14:38060857-38060907	GM12878	blood:	n/a
39	chr14:38053726-38053776	NB4	blood:	n/a
40	chr14:38053726-38053776	PANC-1	pancreas:	n/a
41	chr14:38057893-38057943	SK-N-SH_RA	brain:	n/a
42	chr14:38060564-38060614	HCM	heart:	n/a
43	chr14:38064112-38064162	U87	brain:	n/a
44	chr14:38054297-38054347	Caco-2	colon:	n/a
45	chr14:38054165-38054215	AoSMC	blood vessel:	n/a
46	chr14:38055252-38055302	H1-hESC	embryonic stem cell:	embryo
47	chr14:38057893-38057943	NH-A	brain:	n/a
48	chr14:38053599-38053649	HepG2	liver:	n/a
49	chr14:38063813-38063863	GM12878	blood:	n/a
50	chr14:38058639-38058689	NHDF-neo	bronchial:	n/a

(count:101 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr14:38058730..38062004-chr14:38152244..38154718,3	MCF-7	breast:
2	chr14:38055655..38059490-chr14:38342768..38346428,4	MCF-7	breast:
3	chr12:52539263..52541137-chr14:38055892..38058453,2	MCF-7	breast:
4	chr12:120728734..120731323-chr14:38058246..38060152,2	MCF-7	breast:
5	chr14:38061626..38064274-chr8:144362134..144365132,2	MCF-7	breast:
6	chr14:38061358..38063507-chr3:161089489..161091930,2	MCF-7	breast:
7	chr14:38051890..38052684-chr14:38061075..38061786,2	MCF-7	breast:
8	chr14:38061292..38062805-chr14:38087179..38088948,2	MCF-7	breast:
9	chr14:37811526..37813219-chr14:38057927..38059734,2	MCF-7	breast:
10	chr14:38049811..38051883-chr14:38056230..38058824,2	K562	blood:
11	chr14:38062598..38064269-chr16:87798800..87800930,2	MCF-7	breast:
12	chr14:38063715..38066524-chr16:54963024..54965693,2	MCF-7	breast:
13	chr14:38055921..38058875-chr14:38061516..38064509,2	K562	blood:
14	chr14:38052731..38054342-chr14:38064553..38065582,5	MCF-7	breast:
15	chr12:52638172..52640523-chr14:38063240..38065213,2	MCF-7	breast:
16	chr14:38064151..38065863-chr2:43452314..43453931,2	MCF-7	breast:
17	chr14:38052352..38053048-chr14:38063149..38064449,4	MCF-7	breast:
18	chr14:37977669..37980526-chr14:38060967..38062630,2	MCF-7	breast:
19	chr14:38009151..38011590-chr14:38058939..38061053,2	MCF-7	breast:
20	chr14:38060569..38062165-chr14:38339643..38341361,2	MCF-7	breast:
21	chr14:37731472..37733246-chr14:38060600..38063260,2	MCF-7	breast:
22	chr14:38056260..38058013-chr14:38136356..38140465,3	MCF-7	breast:
23	chr14:37749616..37751782-chr14:38055400..38058293,2	MCF-7	breast:
24	chr14:38052164..38054489-chr14:38155614..38158177,2	MCF-7	breast:
25	chr14:38003108..38005323-chr14:38059907..38061947,2	MCF-7	breast:
26	chr14:38056756..38058941-chr20:52239750..52241770,2	MCF-7	breast:
27	chr14:38061711..38062291-chr14:38118987..38119728,2	MCF-7	breast:
28	chr14:37709149..37730989-chr14:38048141..38067789,135	MCF-7	breast:
29	chr14:37708906..37733371-chr14:38048131..38068843,170	MCF-7	breast:
30	chr14:37697471..37699396-chr14:38051501..38053443,2	MCF-7	breast:
31	chr14:38013523..38020726-chr14:38055776..38060374,10	MCF-7	breast:
32	chr14:38006457..38009317-chr14:38049847..38052544,2	MCF-7	breast:
33	chr14:38063644..38065305-chr17:59487657..59489465,2	MCF-7	breast:
34	chr14:37996356..38000397-chr14:38056446..38059493,3	MCF-7	breast:
35	chr14:38064014..38064548-chr15:90645261..90646074,2	MCF-7	breast:
36	chr14:37703862..37705867-chr14:38056619..38058843,2	MCF-7	breast:
37	chr14:37664939..37667912-chr14:38062947..38065316,3	MCF-7	breast:
38	chr14:38035549..38036658-chr14:38063068..38063787,3	MCF-7	breast:
39	chr14:38061973..38064113-chr8:48650908..48653008,2	MCF-7	breast:
40	chr14:37903287..37907312-chr14:38059908..38064571,5	MCF-7	breast:
41	chr12:120729261..120730769-chr14:38062187..38064055,2	MCF-7	breast:
42	chr14:38053132..38055336-chr16:8951638..8953945,2	MCF-7	breast:
43	chr14:38056746..38059083-chr14:38363861..38366801,2	MCF-7	breast:
44	chr14:38052525..38053293-chr14:38064796..38065530,4	MCF-7	breast:
45	chr14:38062286..38064819-chr20:46129105..46132077,2	MCF-7	breast:
46	chr12:133136306..133139084-chr14:38062974..38065575,2	MCF-7	breast:
47	chr14:38064152..38064718-chr3:172468271..172468926,2	Hela-S3	cervix:
48	chr14:38061188..38062037-chr14:38183857..38184453,2	MCF-7	breast:
49	chr14:38023383..38025089-chr14:38055151..38056886,2	MCF-7	breast:
50	chr14:37704717..37707352-chr14:38053028..38056563,4	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC25A21-3	chr14:38064106-38064155	NONHSAT036465
2	lnc-SLC25A21-3	chr14:38063080-38063818	NONHSAT036465

No data

Variant related genes	Relation type
TTC6	TF binding region
FOXA1	TF binding region
TTC6	CpG island
FOXA1	CpG island
ENSG00000141279	chromatin interactions
ENSG00000259087	chromatin interactions
ENSG00000129514	chromatin interactions
ENSG00000176842	chromatin interactions
ENSG00000124207	chromatin interactions
ENSG00000270117	chromatin interactions
ENSG00000221869	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000151338	chromatin interactions
ENSG00000182197	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000227431	chromatin interactions
ENSG00000111679	chromatin interactions
ENSG00000196542	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000207046	chromatin interactions
ENSG00000183032	chromatin interactions
ENSG00000258708	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000245694	chromatin interactions
ENSG00000198755	chromatin interactions
ENSG00000092199	chromatin interactions
ENSG00000235505	chromatin interactions
ENSG00000251562	chromatin interactions
ENSG00000152518	chromatin interactions
ENSG00000104731	chromatin interactions
ENSG00000112787	chromatin interactions
ENSG00000135480	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000116793	chromatin interactions
ENSG00000259685	chromatin interactions
ENSG00000182054	chromatin interactions
ENSG00000158805	chromatin interactions
ENSG00000114346	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000152475	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000253716	chromatin interactions
ENSG00000139865	chromatin interactions

Extended variants
information (count: 451 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:451 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12436923	chr14:38051035-38051036	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553260488	chr14:38051068-38051069	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs573395736	chr14:38051158-38051159	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs200580860	chr14:38051174-38051175	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs199696773	chr14:38051175-38051176	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs200829554	chr14:38051176-38051177	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs201673555	chr14:38051177-38051178	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs397786899	chr14:38051178-38051179	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs201173573	chr14:38051179-38051180	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs117050652	chr14:38051238-38051239	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs575303296	chr14:38051273-38051274	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs544259848	chr14:38051276-38051277	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs530367828	chr14:38051310-38051311	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs370702279	chr14:38051317-38051318	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs564187430	chr14:38051372-38051373	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs180918225	chr14:38051464-38051465	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs577630225	chr14:38051531-38051532	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs184043870	chr14:38051539-38051540	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs548380794	chr14:38051685-38051686	Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs189894851	chr14:38051742-38051743	Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs145649793	chr14:38051769-38051770	Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs374412019	chr14:38051894-38051895	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs548853894	chr14:38051911-38051912	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs562474737	chr14:38051917-38051918	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs181406241	chr14:38051951-38051952	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs138172257	chr14:38052019-38052020	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs570842783	chr14:38052063-38052064	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs539511187	chr14:38052078-38052079	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs35204574	chr14:38052110-38052111	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs566951316	chr14:38052144-38052145	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs536096899	chr14:38052198-38052199	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs557640001	chr14:38052228-38052229	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs556081780	chr14:38052306-38052307	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs117640584	chr14:38052310-38052311	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs117326642	chr14:38052339-38052340	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs148700106	chr14:38052417-38052418	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs113307746	chr14:38052446-38052447	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs34511173	chr14:38052461-38052462	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs372218156	chr14:38052476-38052477	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs201774481	chr14:38052483-38052484	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs28428475	chr14:38052485-38052486	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs34997946	chr14:38052486-38052487	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs28582352	chr14:38052487-38052488	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs59190659	chr14:38052492-38052493	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs77559722	chr14:38052493-38052494	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs59836488	chr14:38052494-38052495	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs8006003	chr14:38052495-38052496	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs113593993	chr14:38052502-38052503	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs557427530	chr14:38052555-38052556	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs577568068	chr14:38052687-38052688	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Prostate cancer	21147910	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:779 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38037200-38052400	Weak transcription	Liver	Liver
2	chr14:38048200-38051800	Weak transcription	HepG2	liver
3	chr14:38050000-38051800	Weak transcription	A549	lung
4	chr14:38050800-38052400	Weak transcription	Hela-S3	cervix
5	chr14:38051600-38052200	Bivalent Enhancer	Fetal Intestine Large	intestine
6	chr14:38051600-38052200	Bivalent Enhancer	Fetal Intestine Small	intestine
7	chr14:38051800-38052200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr14:38051800-38052200	Enhancers	A549	lung
9	chr14:38051800-38052600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
10	chr14:38051800-38053600	Active TSS	HepG2	liver
11	chr14:38051800-38054600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr14:38052000-38052200	Enhancers	Stomach Mucosa	stomach
13	chr14:38052000-38055200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr14:38052200-38052400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
15	chr14:38052200-38052600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:38052200-38052600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
17	chr14:38052200-38053400	Active TSS	A549	lung
18	chr14:38052200-38053800	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr14:38052200-38054200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
20	chr14:38052400-38052600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
21	chr14:38052400-38052600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr14:38052400-38052600	Enhancers	Liver	Liver
23	chr14:38052400-38052600	Active TSS	Colonic Mucosa	Colon
24	chr14:38052400-38052600	Active TSS	Duodenum Mucosa	Duodenum
25	chr14:38052400-38052800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:38052400-38052800	Bivalent Enhancer	NH-A	brain
27	chr14:38052400-38053000	Bivalent/Poised TSS	Stomach Mucosa	stomach
28	chr14:38052400-38053200	Bivalent/Poised TSS	Lung	lung
29	chr14:38052400-38053400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
30	chr14:38052400-38053400	Bivalent/Poised TSS	Small Intestine	intestine
31	chr14:38052400-38053400	Active TSS	Hela-S3	cervix
32	chr14:38052400-38053600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:38052400-38053600	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr14:38052400-38054600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:38052400-38054800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
36	chr14:38052400-38054800	Active TSS	Esophagus	oesophagus
37	chr14:38052600-38052800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:38052600-38052800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
39	chr14:38052600-38052800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
40	chr14:38052600-38052800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:38052600-38052800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:38052600-38052800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
43	chr14:38052600-38052800	Bivalent Enhancer	Brain Germinal Matrix	brain
44	chr14:38052600-38052800	Bivalent Enhancer	Psoas Muscle	Psoas
45	chr14:38052600-38052800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
46	chr14:38052600-38053000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
47	chr14:38052600-38053000	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr14:38052600-38053000	Bivalent Enhancer	Adipose Nuclei	Adipose
49	chr14:38052600-38053000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
50	chr14:38052600-38053000	Bivalent/Poised TSS	Fetal Stomach	stomach

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