Variant report

Variant	nsv901643
Chromosome Location	chr14:38047789-38081005
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1562)
CpG islands
(count:4271)
Chromatin interactive
region (count:136)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1562 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

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	chr14:38065271-38065427	K562	blood:	n/a	n/a
3	ARID3A	chr14:38057217-38058999	HepG2	liver:	n/a	n/a
4	ARID3A	chr14:38055724-38056888	HepG2	liver:	n/a	n/a
5	ARID3A	chr14:38072046-38072361	HepG2	liver:	n/a	n/a
6	ARID3A	chr14:38059293-38059710	HepG2	liver:	n/a	n/a
7	ARID3A	chr14:38077854-38078044	HepG2	liver:	n/a	n/a
8	ARID3A	chr14:38062570-38065874	HepG2	liver:	n/a	n/a
9	ATF1	chr14:38065088-38065545	K562	blood:	n/a	n/a
10	BACH1	chr14:38068750-38069407	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr14:38065596-38065808	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr14:38066757-38067117	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr14:38055583-38055770	K562	blood:	n/a	n/a
14	BACH1	chr14:38064935-38065230	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr14:38064974-38065220	K562	blood:	n/a	n/a
16	BACH1	chr14:38057273-38058078	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr14:38064346-38064563	H1-hESC	embryonic stem cell:	n/a	n/a
18	BCL3	chr14:38065168-38065727	A549	lung:	n/a	chr14:38065574-38065587
19	BHLHE40	chr14:38064034-38064506	K562	blood:	n/a	chr14:38064053-38064069
20	BHLHE40	chr14:38065019-38065504	K562	blood:	n/a	n/a
21	BHLHE40	chr14:38064021-38065888	HepG2	liver:	n/a	chr14:38064929-38064945 chr14:38064053-38064069 chr14:38065568-38065584
22	BHLHE40	chr14:38063300-38063721	HepG2	liver:	n/a	n/a
23	BHLHE40	chr14:38063317-38063788	K562	blood:	n/a	n/a
24	BHLHE40	chr14:38072053-38072483	HepG2	liver:	n/a	n/a
25	BRCA1	chr14:38065028-38065362	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr14:38063097-38063799	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr14:38057239-38057644	HepG2	liver:	n/a	n/a
28	BRCA1	chr14:38064049-38064336	HepG2	liver:	n/a	n/a
29	BRCA1	chr14:38072074-38072189	HepG2	liver:	n/a	n/a
30	BRCA1	chr14:38065169-38065626	HepG2	liver:	n/a	n/a
31	BRCA1	chr14:38064866-38064867	HepG2	liver:	n/a	n/a
32	CCNT2	chr14:38064876-38065569	K562	blood:	n/a	chr14:38065466-38065475
33	CCNT2	chr14:38063667-38064544	K562	blood:	n/a	n/a
34	CEBPB	chr14:38064423-38064489	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr14:38049306-38049726	A549	lung:	n/a	chr14:38049447-38049458 chr14:38049449-38049460
36	CEBPB	chr14:38055775-38056080	IMR90	lung:	n/a	chr14:38055886-38055898 chr14:38055919-38055930 chr14:38055919-38055932 chr14:38055920-38055931
37	CEBPB	chr14:38052395-38053418	MCF-7	breast:	n/a	n/a
38	CEBPB	chr14:38049315-38049772	IMR90	lung:	n/a	chr14:38049447-38049458 chr14:38049449-38049460
39	CEBPB	chr14:38064988-38065817	HepG2	liver:	n/a	n/a
40	CEBPB	chr14:38057175-38057605	HepG2	liver:	n/a	chr14:38057227-38057240
41	CEBPB	chr14:38064482-38064614	HepG2	liver:	n/a	n/a
42	CEBPB	chr14:38049300-38049639	HepG2	liver:	n/a	chr14:38049447-38049458 chr14:38049449-38049460
43	CEBPB	chr14:38055737-38056070	HepG2	liver:	n/a	chr14:38055886-38055898 chr14:38055919-38055930 chr14:38055919-38055932 chr14:38055920-38055931
44	CEBPB	chr14:38049344-38049812	A549	lung:	n/a	chr14:38049447-38049458 chr14:38049449-38049460
45	CEBPB	chr14:38055751-38056011	A549	lung:	n/a	chr14:38055886-38055898 chr14:38055919-38055930 chr14:38055919-38055932 chr14:38055920-38055931
46	CEBPB	chr14:38057036-38057436	H1-hESC	embryonic stem cell:	n/a	chr14:38057227-38057240
47	CEBPB	chr14:38063406-38063894	Hela-S3	cervix:	n/a	chr14:38063618-38063629
48	CEBPB	chr14:38064367-38065778	MCF-7	breast:	n/a	n/a
49	CEBPB	chr14:38049202-38049836	Hela-S3	cervix:	n/a	chr14:38049447-38049458 chr14:38049449-38049460
50	CEBPB	chr14:38062196-38062366	HepG2	liver:	n/a	n/a

(count:4271 , 50 per page) page: 1 2 3 4 5 6 7 ... 86

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:38071285-38071335	HCPEpiC	choroid plexus:	n/a
2	chr14:38071285-38071335	HCPEpiC	choroid plexus:	n/a
3	chr14:38057752-38057802	MCF10A-Er-Src	breast:	n/a
4	chr14:38080240-38080290	BE2_C	brain:	n/a
5	chr14:38066873-38066923	HCT-116	colon:	n/a
6	chr14:38060564-38060614	HRCEpiC	kidney:	n/a
7	chr14:38067622-38067672	Jurkat	blood:	n/a
8	chr14:38051289-38051339	HIPEpiC	eye:	n/a
9	chr14:38065582-38065632	ovcar-3	ovarian:	n/a
10	chr14:38060857-38060907	PFSK-1	brain:	n/a
11	chr14:38054165-38054215	GM12892	blood:	n/a
12	chr14:38067219-38067269	GM06990	blood:	n/a
13	chr14:38060564-38060614	AoSMC	blood vessel:	n/a
14	chr14:38058263-38058313	Hela-S3	cervix:	n/a
15	chr14:38064490-38064540	HPAEpiC	pulmonary alveolar:	n/a
16	chr14:38064493-38064543	AG04450	lung:	fetal
17	chr14:38080446-38080496	ECC-1	luminal epithelium:	n/a
18	chr14:38065152-38065202	IMR90	lung:	fetal
19	chr14:38060857-38060907	HEK293	kidney:	embryo
20	chr14:38071968-38072018	IMR90	lung:	fetal
21	chr14:38072401-38072451	H1-hESC	embryonic stem cell:	embryo
22	chr14:38068755-38068805	AG09319	gingival:	n/a
23	chr14:38054297-38054347	NB4	blood:	n/a
24	chr14:38058243-38058293	MCF-7	breast:	n/a
25	chr14:38063564-38063614	H1-hESC	embryonic stem cell:	embryo
26	chr14:38066873-38066923	AG04449	skin:	fetal
27	chr14:38068608-38068658	SAEC	small airway:	n/a
28	chr14:38072498-38072548	HUVEC	blood vessel:	n/a
29	chr14:38069079-38069129	AG10803	skin:	n/a
30	chr14:38071768-38071818	SKMC	muscle:	n/a
31	chr14:38065152-38065202	GM12878	blood:	n/a
32	chr14:38053972-38054022	HPAEpiC	pulmonary alveolar:	n/a
33	chr14:38057752-38057802	HepG2	liver:	n/a
34	chr14:38080904-38080954	Hepatocyte	liver:	n/a
35	chr14:38069206-38069256	MCF10A-Er-Src	breast:	n/a
36	chr14:38068553-38068603	NHDF-neo	bronchial:	n/a
37	chr14:38054297-38054347	HCM	heart:	n/a
38	chr14:38071968-38072018	MCF-7	breast:	n/a
39	chr14:38065127-38065177	HIPEpiC	eye:	n/a
40	chr14:38069001-38069051	NHBE	bronchial:	n/a
41	chr14:38053599-38053649	SKMC	muscle:	n/a
42	chr14:38068858-38068908	HUVEC	blood vessel:	n/a
43	chr14:38065303-38065353	SK-N-MC	brain:	n/a
44	chr14:38057893-38057943	HNPCEpiC	eye:	n/a
45	chr14:38058639-38058689	GM12891	blood:	n/a
46	chr14:38063813-38063863	Hepatocyte	liver:	n/a
47	chr14:38054759-38054809	AG04450	lung:	fetal
48	chr14:38052884-38052934	Hela-S3	cervix:	n/a
49	chr14:38064112-38064162	HAEpiC	amniotic membrane:	n/a
50	chr14:38067219-38067269	HNPCEpiC	eye:	n/a

(count:136 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr14:38063458..38065003-chr17:45607681..45609442,2	MCF-7	breast:
2	chr14:38063715..38066524-chr16:54963024..54965693,2	MCF-7	breast:
3	chr14:38035462..38036377-chr14:38063741..38064636,2	MCF-7	breast:
4	chr14:38051959..38054896-chr14:38346073..38349054,2	MCF-7	breast:
5	chr14:38009151..38011590-chr14:38058939..38061053,2	MCF-7	breast:
6	chr14:38065961..38068630-chr14:38077390..38079134,2	K562	blood:
7	chr14:37722315..37724544-chr14:38070398..38072993,2	MCF-7	breast:
8	chr14:37731472..37733246-chr14:38060600..38063260,2	MCF-7	breast:
9	chr14:38066762..38068262-chr17:59431562..59433870,3	MCF-7	breast:
10	chr14:38035774..38036456-chr14:38064681..38065639,3	MCF-7	breast:
11	chr14:38052050..38054072-chr8:119123824..119125742,2	MCF-7	breast:
12	chr14:37811526..37813219-chr14:38057927..38059734,2	MCF-7	breast:
13	chr12:52638172..52640523-chr14:38063240..38065213,2	MCF-7	breast:
14	chr14:37697987..37700834-chr14:38057234..38059879,2	MCF-7	breast:
15	chr14:38071630..38073230-chr14:38078352..38080400,2	MCF-7	breast:
16	chr12:7053819..7056575-chr14:38063408..38066179,2	MCF-7	breast:
17	chr14:37667184..37668809-chr14:38065579..38068114,2	MCF-7	breast:
18	chr14:38055921..38058875-chr14:38061516..38064509,2	K562	blood:
19	chr14:38051890..38052684-chr14:38061075..38061786,2	MCF-7	breast:
20	chr14:38056260..38058013-chr14:38136356..38140465,3	MCF-7	breast:
21	chr14:38010426..38020494-chr14:38050537..38062032,33	MCF-7	breast:
22	chr14:38065477..38068089-chr14:38070439..38072783,2	K562	blood:
23	chr14:38064675..38065527-chr8:142011229..142012065,2	Hela-S3	cervix:
24	chr14:38060569..38062165-chr14:38339643..38341361,2	MCF-7	breast:
25	chr14:38023383..38025089-chr14:38055151..38056886,2	MCF-7	breast:
26	chr14:38062598..38064269-chr16:87798800..87800930,2	MCF-7	breast:
27	chr14:38065477..38068089-chr14:38070439..38072783,2	K562	blood:
28	chr14:37697471..37699396-chr14:38051501..38053443,2	MCF-7	breast:
29	chr14:38053037..38053658-chr14:38063411..38063954,2	MCF-7	breast:
30	chr14:37977669..37980526-chr14:38060967..38062630,2	MCF-7	breast:
31	chr14:38013794..38017816-chr14:38049871..38055560,6	MCF-7	breast:
32	chr14:37868199..37870734-chr14:38056121..38058989,2	MCF-7	breast:
33	chr14:38062286..38064819-chr20:46129105..46132077,2	MCF-7	breast:
34	chr14:38059772..38062294-chr6:35436080..35437583,2	MCF-7	breast:
35	chr14:38035956..38036475-chr14:38064723..38065603,2	MCF-7	breast:
36	chr14:38064570..38066790-chr14:38067298..38069207,2	K562	blood:
37	chr14:38052576..38054584-chr20:45987058..45989218,2	MCF-7	breast:
38	chr14:38062223..38064803-chr14:38073954..38076887,2	K562	blood:
39	chr14:38071630..38073230-chr14:38078352..38080400,2	MCF-7	breast:
40	chr14:38055655..38059490-chr14:38342768..38346428,4	MCF-7	breast:
41	chr14:38066098..38067746-chr16:30886029..30887943,2	MCF-7	breast:
42	chr14:38052731..38054342-chr14:38064553..38065582,5	MCF-7	breast:
43	chr14:37732063..37736405-chr14:38055420..38059808,4	MCF-7	breast:
44	chr14:38064124..38065674-chr20:47662197..47664307,2	MCF-7	breast:
45	chr14:38060438..38062133-chr14:38130712..38132708,2	MCF-7	breast:
46	chr14:38064014..38064548-chr15:90645261..90646074,2	MCF-7	breast:
47	chr14:38052525..38053293-chr14:38064796..38065530,2	MCF-7	breast:
48	chr14:38034479..38035462-chr14:38052798..38053592,2	MCF-7	breast:
49	chr14:38035593..38036192-chr14:38052628..38053371,2	MCF-7	breast:
50	chr14:38058730..38062004-chr14:38152244..38154718,3	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MIPOL1-2	chr14:38075867-38075919	NONHSAT036468
2	lnc-MIPOL1-2	chr14:38073402-38073559	NONHSAT036468
3	lnc-SLC25A21-3	chr14:38064106-38064155	NONHSAT036465
4	lnc-MIPOL1-2	chr14:38073403-38073559	XLOC_010805
5	lnc-MIPOL1-1	chr14:38047909-38048129	XLOC_010804
6	lnc-SLC25A21-2	chr14:38066369-38066939	XLOC_010998
7	lnc-SLC25A21-3	chr14:38063080-38063818	NONHSAT036465
8	lnc-MIPOL1-2	chr14:38075868-38075919	XLOC_010805
9	lnc-MIPOL1-1	chr14:38047909-38048330	ENSG00000258414.1
10	lnc-SLC25A21-2	chr14:38067511-38067552	XLOC_010998

No data

Variant related genes	Relation type
TTC6	TF binding region
FOXA1	TF binding region
TTC6	CpG island
FOXA1	CpG island
ENSG00000267280	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000260083	chromatin interactions
ENSG00000152475	chromatin interactions
ENSG00000270117	chromatin interactions
ENSG00000198755	chromatin interactions
ENSG00000258414	chromatin interactions
ENSG00000092199	chromatin interactions
ENSG00000169398	chromatin interactions
ENSG00000182054	chromatin interactions
ENSG00000111679	chromatin interactions
ENSG00000196542	chromatin interactions
ENSG00000152518	chromatin interactions
ENSG00000158805	chromatin interactions
ENSG00000258708	chromatin interactions
ENSG00000182197	chromatin interactions
ENSG00000259685	chromatin interactions
ENSG00000050393	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000176842	chromatin interactions
ENSG00000259087	chromatin interactions
ENSG00000183032	chromatin interactions
ENSG00000124207	chromatin interactions
ENSG00000114346	chromatin interactions
ENSG00000151338	chromatin interactions
ENSG00000245694	chromatin interactions
ENSG00000104731	chromatin interactions
ENSG00000116793	chromatin interactions
ENSG00000207046	chromatin interactions
ENSG00000112787	chromatin interactions
ENSG00000221869	chromatin interactions
ENSG00000129514	chromatin interactions
ENSG00000251562	chromatin interactions
ENSG00000135480	chromatin interactions
ENSG00000139865	chromatin interactions
ENSG00000253716	chromatin interactions
ENSG00000227431	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000235505	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000171163	chromatin interactions
ENSG00000116017	chromatin interactions
ENSG00000265991	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000141279	chromatin interactions

Extended variants
information (count: 1091 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1091 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1884798	chr14:38047789-38047790	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190728506	chr14:38047794-38047795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139838290	chr14:38047805-38047806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528204973	chr14:38047825-38047826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554713911	chr14:38047829-38047830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574691633	chr14:38047887-38047888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554315659	chr14:38047890-38047891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537293077	chr14:38047956-38047957	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs149914928	chr14:38047975-38047976	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs180743453	chr14:38048034-38048035	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs542151247	chr14:38048063-38048064	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs546350573	chr14:38048078-38048079	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs111316467	chr14:38048094-38048095	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs200610834	chr14:38048120-38048121	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs140322403	chr14:38048135-38048136	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs541183361	chr14:38048154-38048155	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs561493007	chr14:38048212-38048213	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs185255511	chr14:38048250-38048251	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs200902931	chr14:38048262-38048263	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs141032500	chr14:38048263-38048264	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs550187439	chr14:38048281-38048282	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs550059534	chr14:38048283-38048284	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs563672858	chr14:38048306-38048307	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs144220916	chr14:38048320-38048321	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs188403048	chr14:38048356-38048357	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs565554632	chr14:38048450-38048451	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs181276668	chr14:38048456-38048457	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs369027157	chr14:38048480-38048481	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs547981900	chr14:38048513-38048514	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs568255641	chr14:38048516-38048517	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs537281110	chr14:38048532-38048533	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs557279935	chr14:38048540-38048541	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs577240977	chr14:38048563-38048564	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs185871049	chr14:38048564-38048565	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs558879909	chr14:38048580-38048581	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs572360328	chr14:38048584-38048585	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs191385412	chr14:38048601-38048602	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs147764811	chr14:38048632-38048633	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs183748011	chr14:38048648-38048649	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs543636179	chr14:38048655-38048656	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs79975441	chr14:38048707-38048708	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs75360561	chr14:38048727-38048728	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs148904443	chr14:38048750-38048751	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs559254014	chr14:38048772-38048773	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs570014122	chr14:38048815-38048816	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs187041823	chr14:38048816-38048817	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs1950817	chr14:38048834-38048835	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs192214630	chr14:38048874-38048875	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs142650615	chr14:38048885-38048886	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs17179274	chr14:38048891-38048892	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1479 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38036600-38049000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:38037200-38052400	Weak transcription	Liver	Liver
3	chr14:38046800-38048400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:38047400-38048200	Enhancers	HepG2	liver
5	chr14:38048200-38049000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
6	chr14:38048200-38049600	Enhancers	Hela-S3	cervix
7	chr14:38048200-38051800	Weak transcription	HepG2	liver
8	chr14:38048400-38048600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:38048400-38048800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:38048400-38048800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:38048400-38049000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:38048400-38049000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:38048400-38049200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:38048400-38050000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:38048400-38050000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:38048600-38050200	Enhancers	HMEC	breast
17	chr14:38048600-38050400	Enhancers	NHEK	skin
18	chr14:38048800-38049600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:38049000-38050200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:38049600-38049800	Enhancers	A549	lung
21	chr14:38049600-38050000	Flanking Active TSS	Hela-S3	cervix
22	chr14:38050000-38050800	Enhancers	Hela-S3	cervix
23	chr14:38050000-38051800	Weak transcription	A549	lung
24	chr14:38050200-38050800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:38050800-38051000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:38050800-38052400	Weak transcription	Hela-S3	cervix
27	chr14:38051600-38052200	Bivalent Enhancer	Fetal Intestine Large	intestine
28	chr14:38051600-38052200	Bivalent Enhancer	Fetal Intestine Small	intestine
29	chr14:38051800-38052200	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr14:38051800-38052200	Enhancers	A549	lung
31	chr14:38051800-38052600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
32	chr14:38051800-38053600	Active TSS	HepG2	liver
33	chr14:38051800-38054600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
34	chr14:38052000-38052200	Enhancers	Stomach Mucosa	stomach
35	chr14:38052000-38055200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr14:38052200-38052400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
37	chr14:38052200-38052600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:38052200-38052600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
39	chr14:38052200-38053400	Active TSS	A549	lung
40	chr14:38052200-38053800	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr14:38052200-38054200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
42	chr14:38052400-38052600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
43	chr14:38052400-38052600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr14:38052400-38052600	Enhancers	Liver	Liver
45	chr14:38052400-38052600	Active TSS	Colonic Mucosa	Colon
46	chr14:38052400-38052600	Active TSS	Duodenum Mucosa	Duodenum
47	chr14:38052400-38052800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr14:38052400-38052800	Bivalent Enhancer	NH-A	brain
49	chr14:38052400-38053000	Bivalent/Poised TSS	Stomach Mucosa	stomach
50	chr14:38052400-38053200	Bivalent/Poised TSS	Lung	lung

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