Variant report

Variant	nsv901644
Chromosome Location	chr14:38049107-38064738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1099)
CpG islands
(count:2016)
Chromatin interactive
region (count:107)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1099 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:38062250-38062328	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:38057217-38058999	HepG2	liver:	n/a	n/a
3	ARID3A	chr14:38062570-38065874	HepG2	liver:	n/a	n/a
4	ARID3A	chr14:38055724-38056888	HepG2	liver:	n/a	n/a
5	ARID3A	chr14:38059293-38059710	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	BACH1	chr14:38064346-38064563	H1-hESC	embryonic stem cell:	n/a	n/a
9	BHLHE40	chr14:38063300-38063721	HepG2	liver:	n/a	n/a
10	BHLHE40	chr14:38063317-38063788	K562	blood:	n/a	n/a
11	BHLHE40	chr14:38064021-38065888	HepG2	liver:	n/a	chr14:38064929-38064945 chr14:38064053-38064069 chr14:38065568-38065584
12	BHLHE40	chr14:38064034-38064506	K562	blood:	n/a	chr14:38064053-38064069
13	BRCA1	chr14:38063097-38063799	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr14:38064049-38064336	HepG2	liver:	n/a	n/a
15	BRCA1	chr14:38057239-38057644	HepG2	liver:	n/a	n/a
16	CCNT2	chr14:38063667-38064544	K562	blood:	n/a	n/a
17	CEBPB	chr14:38049315-38049772	IMR90	lung:	n/a	chr14:38049447-38049458 chr14:38049449-38049460
18	CEBPB	chr14:38063406-38063894	Hela-S3	cervix:	n/a	chr14:38063618-38063629
19	CEBPB	chr14:38049300-38049639	HepG2	liver:	n/a	chr14:38049447-38049458 chr14:38049449-38049460
20	CEBPB	chr14:38055737-38056070	HepG2	liver:	n/a	chr14:38055886-38055898 chr14:38055919-38055930 chr14:38055919-38055932 chr14:38055920-38055931
21	CEBPB	chr14:38062196-38062366	HepG2	liver:	n/a	n/a
22	CEBPB	chr14:38049202-38049836	Hela-S3	cervix:	n/a	chr14:38049447-38049458 chr14:38049449-38049460
23	CEBPB	chr14:38057175-38057605	HepG2	liver:	n/a	chr14:38057227-38057240
24	CEBPB	chr14:38057036-38057436	H1-hESC	embryonic stem cell:	n/a	chr14:38057227-38057240
25	CEBPB	chr14:38064367-38065778	MCF-7	breast:	n/a	n/a
26	CEBPB	chr14:38064423-38064489	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr14:38064482-38064614	HepG2	liver:	n/a	n/a
28	CEBPB	chr14:38055775-38056080	IMR90	lung:	n/a	chr14:38055886-38055898 chr14:38055919-38055930 chr14:38055919-38055932 chr14:38055920-38055931
29	CEBPB	chr14:38049306-38049726	A549	lung:	n/a	chr14:38049447-38049458 chr14:38049449-38049460
30	CEBPB	chr14:38055751-38056011	A549	lung:	n/a	chr14:38055886-38055898 chr14:38055919-38055930 chr14:38055919-38055932 chr14:38055920-38055931
31	CEBPB	chr14:38049344-38049812	A549	lung:	n/a	chr14:38049447-38049458 chr14:38049449-38049460
32	CEBPB	chr14:38052395-38053418	MCF-7	breast:	n/a	n/a
33	CEBPD	chr14:38056965-38057951	HepG2	liver:	n/a	chr14:38057228-38057239
34	CEBPD	chr14:38064131-38065690	HepG2	liver:	n/a	n/a
35	CEBPD	chr14:38063986-38065839	HepG2	liver:	n/a	n/a
36	CEBPD	chr14:38052481-38053399	HepG2	liver:	n/a	n/a
37	CHD1	chr14:38063425-38063845	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD1	chr14:38060477-38060869	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD1	chr14:38057190-38057567	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr14:38049338-38049720	Hela-S3	cervix:	n/a	n/a
41	CHD2	chr14:38057043-38058282	HepG2	liver:	n/a	n/a
42	CHD2	chr14:38064025-38064563	K562	blood:	n/a	n/a
43	CHD2	chr14:38063491-38065864	HepG2	liver:	n/a	chr14:38065391-38065401
44	CHD2	chr14:38064535-38064598	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr14:38060934-38060995	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD2	chr14:38052636-38052642	HepG2	liver:	n/a	n/a
47	CHD2	chr14:38064019-38065564	Hela-S3	cervix:	n/a	chr14:38065391-38065401
48	CHD2	chr14:38057068-38057327	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD2	chr14:38060672-38060684	HepG2	liver:	n/a	n/a
50	CHD2	chr14:38063370-38063743	Hela-S3	cervix:	n/a	n/a

(count:2016 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:38058284-38058334	GM12892	blood:	n/a
2	chr14:38064456-38064506	ovcar-3	ovarian:	n/a
3	chr14:38064490-38064540	HCF	heart:	n/a
4	chr14:38058284-38058334	GM12892	blood:	n/a
5	chr14:38064456-38064506	ovcar-3	ovarian:	n/a
6	chr14:38064490-38064540	HCF	heart:	n/a
7	chr14:38064490-38064540	NT2-D1	testis:	n/a
8	chr14:38051289-38051339	HEK293	kidney:	embryo
9	chr14:38052884-38052934	NB4	blood:	n/a
10	chr14:38063813-38063863	SK-N-MC	brain:	n/a
11	chr14:38060857-38060907	SK-N-SH	brain:	n/a
12	chr14:38064513-38064563	BE2_C	brain:	n/a
13	chr14:38054297-38054347	GM19239	blood:	n/a
14	chr14:38052740-38052790	K562	blood:	n/a
15	chr14:38060564-38060614	U87	brain:	n/a
16	chr14:38054759-38054809	AoSMC	blood vessel:	n/a
17	chr14:38064532-38064582	NT2-D1	testis:	n/a
18	chr14:38061988-38062038	H1-hESC	embryonic stem cell:	embryo
19	chr14:38051289-38051339	GM06990	blood:	n/a
20	chr14:38058284-38058334	GM12878	blood:	n/a
21	chr14:38054759-38054809	AG10803	skin:	n/a
22	chr14:38053726-38053776	H1-hESC	embryonic stem cell:	embryo
23	chr14:38054759-38054809	Caco-2	colon:	n/a
24	chr14:38061988-38062038	HCF	heart:	n/a
25	chr14:38053972-38054022	HRPEpiC	eye:	n/a
26	chr14:38053599-38053649	MCF10A-Er-Src	breast:	n/a
27	chr14:38054165-38054215	AG10803	skin:	n/a
28	chr14:38064456-38064506	Caco-2	colon:	n/a
29	chr14:38053726-38053776	HPAEpiC	pulmonary alveolar:	n/a
30	chr14:38057893-38057943	Hela-S3	cervix:	n/a
31	chr14:38058243-38058293	CMK	blood:	n/a
32	chr14:38058639-38058689	GM12891	blood:	n/a
33	chr14:38061326-38061376	LNCaP	prostate:	n/a
34	chr14:38058263-38058313	GM19239	blood:	n/a
35	chr14:38053972-38054022	SKMC	muscle:	n/a
36	chr14:38057893-38057943	HCF	heart:	n/a
37	chr14:38049805-38049855	PrEC	prostate:	n/a
38	chr14:38064112-38064162	Hepatocyte	liver:	n/a
39	chr14:38063564-38063614	GM12892	blood:	n/a
40	chr14:38053726-38053776	GM19239	blood:	n/a
41	chr14:38060857-38060907	CMK	blood:	n/a
42	chr14:38058639-38058689	LNCaP	prostate:	n/a
43	chr14:38058243-38058293	MCF-7	breast:	n/a
44	chr14:38064456-38064506	AG04449	skin:	fetal
45	chr14:38053726-38053776	HEK293	kidney:	embryo
46	chr14:38057893-38057943	NHBE	bronchial:	n/a
47	chr14:38052740-38052790	BJ	skin:	n/a
48	chr14:38061458-38061508	ovcar-3	ovarian:	n/a
49	chr14:38053308-38053358	ovcar-3	ovarian:	n/a
50	chr14:38052740-38052790	U87	brain:	n/a

(count:107 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr14:38061358..38063507-chr3:161089489..161091930,2	MCF-7	breast:
2	chr14:37924566..37927073-chr14:38060566..38062784,2	MCF-7	breast:
3	chr14:38056746..38059083-chr14:38363861..38366801,2	MCF-7	breast:
4	chr14:37903287..37907312-chr14:38059908..38064571,5	MCF-7	breast:
5	chr14:37709149..37730989-chr14:38048141..38067789,135	MCF-7	breast:
6	chr14:37732063..37736405-chr14:38055420..38059808,4	MCF-7	breast:
7	chr14:37744550..37746871-chr14:38059550..38062065,2	MCF-7	breast:
8	chr14:38053183..38055954-chr14:38113662..38116528,3	MCF-7	breast:
9	chr14:38064014..38064548-chr15:90645261..90646074,2	MCF-7	breast:
10	chr14:38063715..38066524-chr16:54963024..54965693,2	MCF-7	breast:
11	chr14:38063644..38065305-chr17:59487657..59489465,2	MCF-7	breast:
12	chr14:37996620..37999759-chr14:38060620..38062986,3	MCF-7	breast:
13	chr14:38035774..38036456-chr14:38064681..38065639,3	MCF-7	breast:
14	chr14:38053037..38053658-chr14:38063411..38063954,2	MCF-7	breast:
15	chr14:38052731..38054342-chr14:38064553..38065582,5	MCF-7	breast:
16	chr14:37664939..37667912-chr14:38062947..38065316,3	MCF-7	breast:
17	chr12:133136306..133139084-chr14:38062974..38065575,2	MCF-7	breast:
18	chr14:38056756..38058941-chr20:52239750..52241770,2	MCF-7	breast:
19	chr14:38056260..38058013-chr14:38136356..38140465,3	MCF-7	breast:
20	chr14:37868199..37870734-chr14:38056121..38058989,2	MCF-7	breast:
21	chr14:38051074..38053594-chr16:89788190..89790581,2	MCF-7	breast:
22	chr14:37731472..37733246-chr14:38060600..38063260,2	MCF-7	breast:
23	chr14:37641087..37642667-chr14:38063502..38066629,3	MCF-7	breast:
24	chr11:65264612..65267517-chr14:38054268..38055972,2	MCF-7	breast:
25	chr14:37996356..38000397-chr14:38056446..38059493,3	MCF-7	breast:
26	chr14:38048849..38050356-chr19:926470..928737,2	MCF-7	breast:
27	chr14:38035462..38036377-chr14:38063741..38064636,2	MCF-7	breast:
28	chr14:38006457..38009317-chr14:38049847..38052544,2	MCF-7	breast:
29	chr14:38062286..38064819-chr20:46129105..46132077,2	MCF-7	breast:
30	chr14:38021477..38023434-chr14:38051873..38053665,2	MCF-7	breast:
31	chr12:7053819..7056575-chr14:38063408..38066179,2	MCF-7	breast:
32	chr14:38049811..38051883-chr14:38056230..38058824,2	K562	blood:
33	chr14:38064124..38065674-chr20:47662197..47664307,2	MCF-7	breast:
34	chr14:38035549..38036658-chr14:38063068..38063787,3	MCF-7	breast:
35	chr12:120729261..120730769-chr14:38062187..38064055,2	MCF-7	breast:
36	chr14:38064675..38065527-chr8:142011229..142012065,2	Hela-S3	cervix:
37	chr14:38061711..38062291-chr14:38118987..38119728,2	MCF-7	breast:
38	chr14:38054348..38056983-chr16:85495948..85497819,2	MCF-7	breast:
39	chr14:38013794..38017816-chr14:38049871..38055560,6	MCF-7	breast:
40	chr14:38035794..38036299-chr14:38056945..38057588,2	MCF-7	breast:
41	chr14:38050621..38053581-chr14:38135495..38137848,2	MCF-7	breast:
42	chr14:38035956..38036475-chr14:38064723..38065603,2	MCF-7	breast:
43	chr14:38059647..38062011-chr19:58890686..58893348,2	MCF-7	breast:
44	chr14:38054286..38055806-chr14:38336745..38339551,2	MCF-7	breast:
45	chr14:21736096..21738321-chr14:38062641..38065635,3	MCF-7	breast:
46	chr14:38060569..38062165-chr14:38339643..38341361,2	MCF-7	breast:
47	chr14:38018016..38020323-chr14:38050834..38052652,3	MCF-7	breast:
48	chr14:38035708..38036563-chr14:38060466..38061108,2	MCF-7	breast:
49	chr14:38013523..38020726-chr14:38055776..38060374,10	MCF-7	breast:
50	chr14:38059772..38062294-chr6:35436080..35437583,2	MCF-7	breast:

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

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

No data

Variant related genes	Relation type
TTC6	TF binding region
FOXA1	TF binding region
TTC6	CpG island
FOXA1	CpG island
ENSG00000235505	chromatin interactions
ENSG00000129514	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000141279	chromatin interactions
ENSG00000176842	chromatin interactions
ENSG00000253716	chromatin interactions
ENSG00000196542	chromatin interactions
ENSG00000114346	chromatin interactions
ENSG00000198755	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000124207	chromatin interactions
ENSG00000111679	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000207046	chromatin interactions
ENSG00000182197	chromatin interactions
ENSG00000258708	chromatin interactions
ENSG00000116793	chromatin interactions
ENSG00000151338	chromatin interactions
ENSG00000259685	chromatin interactions
ENSG00000259087	chromatin interactions
ENSG00000158805	chromatin interactions
ENSG00000135480	chromatin interactions
ENSG00000112787	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000251562	chromatin interactions
ENSG00000152475	chromatin interactions
ENSG00000183032	chromatin interactions
ENSG00000221869	chromatin interactions
ENSG00000152518	chromatin interactions
ENSG00000092199	chromatin interactions
ENSG00000182054	chromatin interactions
ENSG00000169398	chromatin interactions
ENSG00000227431	chromatin interactions
ENSG00000116017	chromatin interactions
ENSG00000104731	chromatin interactions
ENSG00000245694	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000139865	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000270117	chromatin interactions

Extended variants
information (count: 520 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:520 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17179281	chr14:38049107-38049108	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574564616	chr14:38049159-38049160	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs199825656	chr14:38049212-38049213	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs534206798	chr14:38049223-38049224	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs150226699	chr14:38049241-38049242	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs369075834	chr14:38049258-38049259	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs557091035	chr14:38049287-38049288	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs183382780	chr14:38049385-38049386	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs574616242	chr14:38049401-38049402	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs546471455	chr14:38049425-38049426	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs559832804	chr14:38049528-38049529	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs528071708	chr14:38049577-38049578	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs570072300	chr14:38049606-38049607	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs138858665	chr14:38049661-38049662	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs34798963	chr14:38049681-38049682	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs374505412	chr14:38049696-38049697	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs530589071	chr14:38049697-38049698	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs550706956	chr14:38049790-38049791	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs541655315	chr14:38049801-38049802	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs533026310	chr14:38049887-38049888	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs546864853	chr14:38049891-38049892	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs186637001	chr14:38049972-38049973	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs112627501	chr14:38049973-38049974	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs535763106	chr14:38050041-38050042	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs191442094	chr14:38050048-38050049	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs182392247	chr14:38050081-38050082	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs188278061	chr14:38050093-38050094	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs192848154	chr14:38050110-38050111	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs185351839	chr14:38050115-38050116	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs59861537	chr14:38050128-38050129	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs188518144	chr14:38050138-38050139	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs573433033	chr14:38050217-38050218	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs542558281	chr14:38050227-38050228	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs377698605	chr14:38050258-38050259	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs56866821	chr14:38050274-38050275	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs140579412	chr14:38050305-38050306	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs544323172	chr14:38050343-38050344	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs193234148	chr14:38050345-38050346	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs530836112	chr14:38050519-38050520	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs533134488	chr14:38050574-38050575	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs566461191	chr14:38050678-38050679	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs535531013	chr14:38050682-38050683	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs546450338	chr14:38050700-38050701	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs546086819	chr14:38050704-38050705	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs185109668	chr14:38050748-38050749	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs564092916	chr14:38050767-38050768	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs188262587	chr14:38050810-38050811	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs548868105	chr14:38050841-38050842	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs568108481	chr14:38050863-38050864	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs537085668	chr14:38050867-38050868	Enhancers Weak transcription	Chromatin interactive region	1 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:825 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38037200-38052400	Weak transcription	Liver	Liver
2	chr14:38048200-38049600	Enhancers	Hela-S3	cervix
3	chr14:38048200-38051800	Weak transcription	HepG2	liver
4	chr14:38048400-38049200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:38048400-38050000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:38048400-38050000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:38048600-38050200	Enhancers	HMEC	breast
8	chr14:38048600-38050400	Enhancers	NHEK	skin
9	chr14:38048800-38049600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:38049000-38050200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:38049600-38049800	Enhancers	A549	lung
12	chr14:38049600-38050000	Flanking Active TSS	Hela-S3	cervix
13	chr14:38050000-38050800	Enhancers	Hela-S3	cervix
14	chr14:38050000-38051800	Weak transcription	A549	lung
15	chr14:38050200-38050800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:38050800-38051000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:38050800-38052400	Weak transcription	Hela-S3	cervix
18	chr14:38051600-38052200	Bivalent Enhancer	Fetal Intestine Large	intestine
19	chr14:38051600-38052200	Bivalent Enhancer	Fetal Intestine Small	intestine
20	chr14:38051800-38052200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr14:38051800-38052200	Enhancers	A549	lung
22	chr14:38051800-38052600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
23	chr14:38051800-38053600	Active TSS	HepG2	liver
24	chr14:38051800-38054600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr14:38052000-38052200	Enhancers	Stomach Mucosa	stomach
26	chr14:38052000-38055200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
27	chr14:38052200-38052400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
28	chr14:38052200-38052600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:38052200-38052600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
30	chr14:38052200-38053400	Active TSS	A549	lung
31	chr14:38052200-38053800	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr14:38052200-38054200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
33	chr14:38052400-38052600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
34	chr14:38052400-38052600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr14:38052400-38052600	Enhancers	Liver	Liver
36	chr14:38052400-38052600	Active TSS	Colonic Mucosa	Colon
37	chr14:38052400-38052600	Active TSS	Duodenum Mucosa	Duodenum
38	chr14:38052400-38052800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr14:38052400-38052800	Bivalent Enhancer	NH-A	brain
40	chr14:38052400-38053000	Bivalent/Poised TSS	Stomach Mucosa	stomach
41	chr14:38052400-38053200	Bivalent/Poised TSS	Lung	lung
42	chr14:38052400-38053400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
43	chr14:38052400-38053400	Bivalent/Poised TSS	Small Intestine	intestine
44	chr14:38052400-38053400	Active TSS	Hela-S3	cervix
45	chr14:38052400-38053600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:38052400-38053600	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr14:38052400-38054600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:38052400-38054800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
49	chr14:38052400-38054800	Active TSS	Esophagus	oesophagus
50	chr14:38052600-38052800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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