Variant report

Variant	nsv9170
Chromosome Location	chr14:103994260-104017971
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1689)
CpG islands
(count:1649)
Chromatin interactive
region (count:46)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1689 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr14:103995348-103995685	K562	blood:	n/a	n/a
2	ATF2	chr14:104008631-104009577	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr14:104008628-104009560	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr14:103995222-103995707	H1-hESC	embryonic stem cell:	n/a	chr14:103995501-103995521 chr14:103995502-103995513
5	ATF3	chr14:103995473-103995730	H1-hESC	embryonic stem cell:	n/a	chr14:103995501-103995521 chr14:103995502-103995513
6	ATF3	chr14:103995364-103995679	HepG2	liver:	n/a	chr14:103995501-103995521 chr14:103995502-103995513
7	ATF3	chr14:103995304-103995632	K562	blood:	n/a	chr14:103995501-103995521 chr14:103995502-103995513
8	ATF3	chr14:103995341-103995740	GM12878	blood:	n/a	chr14:103995501-103995521 chr14:103995502-103995513
9	ATF3	chr14:103995484-103995647	GM12878	blood:	n/a	chr14:103995501-103995521 chr14:103995502-103995513
10	BACH1	chr14:104009192-104009278	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr14:104013141-104013279	K562	blood:	n/a	n/a
12	BCL3	chr14:104006448-104007282	A549	lung:	n/a	chr14:104006908-104006921
13	BCL3	chr14:104013048-104013611	A549	lung:	n/a	n/a
14	BCL3	chr14:104006674-104007310	A549	lung:	n/a	chr14:104006908-104006921
15	BCL3	chr14:104003399-104004220	A549	lung:	n/a	n/a
16	BCL3	chr14:104004590-104005131	A549	lung:	n/a	chr14:104005043-104005056 chr14:104004703-104004711 chr14:104004838-104004851
17	BCL3	chr14:104005675-104006079	A549	lung:	n/a	chr14:104005788-104005801
18	BCL3	chr14:104009007-104009557	A549	lung:	n/a	n/a
19	BCL3	chr14:104003973-104004329	A549	lung:	n/a	n/a
20	BCLAF1	chr14:103995083-103995461	GM12878	blood:	n/a	n/a
21	BHLHE40	chr14:104013135-104013517	K562	blood:	n/a	n/a
22	BHLHE40	chr14:103995182-103995997	GM12878	blood:	n/a	chr14:103995384-103995397 chr14:103995543-103995559
23	BHLHE40	chr14:104017963-104018166	K562	blood:	n/a	n/a
24	BHLHE40	chr14:104003141-104003167	GM12878	blood:	n/a	n/a
25	BHLHE40	chr14:104015812-104016627	HepG2	liver:	n/a	chr14:104016139-104016148
26	BHLHE40	chr14:104010014-104010420	HepG2	liver:	n/a	chr14:104010174-104010183 chr14:104010175-104010184 chr14:104010175-104010184 chr14:104010169-104010190
27	BHLHE40	chr14:103995209-103996036	HepG2	liver:	n/a	chr14:103995384-103995397 chr14:103995543-103995559
28	BHLHE40	chr14:104013187-104013524	GM12878	blood:	n/a	n/a
29	BHLHE40	chr14:104010100-104010240	K562	blood:	n/a	chr14:104010174-104010183 chr14:104010175-104010184 chr14:104010175-104010184 chr14:104010169-104010190
30	BHLHE40	chr14:103995234-103995864	K562	blood:	n/a	chr14:103995384-103995397 chr14:103995543-103995559
31	BHLHE40	chr14:104013183-104013504	HepG2	liver:	n/a	n/a
32	BHLHE40	chr14:103995329-103995755	A549	lung:	n/a	chr14:103995384-103995397 chr14:103995543-103995559
33	BRCA1	chr14:104005264-104005367	Hela-S3	cervix:	n/a	n/a
34	BRCA1	chr14:104013253-104013311	HepG2	liver:	n/a	n/a
35	BRCA1	chr14:104006747-104007212	Hela-S3	cervix:	n/a	n/a
36	BRCA1	chr14:103995332-103995616	Hela-S3	cervix:	n/a	n/a
37	BRCA1	chr14:104009136-104009452	H1-hESC	embryonic stem cell:	n/a	n/a
38	CBX3	chr14:103996721-103997075	K562	blood:	n/a	n/a
39	CCNT2	chr14:104004977-104005168	K562	blood:	n/a	n/a
40	CCNT2	chr14:104013174-104013552	K562	blood:	n/a	n/a
41	CCNT2	chr14:103995207-103995779	K562	blood:	n/a	chr14:103995475-103995484
42	CEBPB	chr14:104009168-104009329	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr14:104006320-104007313	Hela-S3	cervix:	n/a	chr14:104006440-104006453
44	CEBPB	chr14:104013104-104013435	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr14:104009098-104009477	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD1	chr14:104008957-104009037	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD1	chr14:104013004-104013497	IMR90	lung:	n/a	n/a
48	CHD1	chr14:103995255-103995777	GM12878	blood:	n/a	chr14:103995474-103995484
49	CHD2	chr14:104010047-104010120	Hela-S3	cervix:	n/a	n/a
50	CHD2	chr14:104008488-104009660	Hela-S3	cervix:	n/a	chr14:104009112-104009122

(count:1649 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:103995143-103995193	A549	lung:	n/a
2	chr14:104000505-104000555	SKMC	muscle:	n/a
3	chr14:103995143-103995193	A549	lung:	n/a
4	chr14:104000505-104000555	SKMC	muscle:	n/a
5	chr14:104002654-104002704	HPAEpiC	pulmonary alveolar:	n/a
6	chr14:104003370-104003420	HRE	kidney:	n/a
7	chr14:104000460-104000510	A549	lung:	n/a
8	chr14:103995324-103995374	HEEpiC	esophagus:	n/a
9	chr14:104010839-104010889	SK-N-SH	brain:	n/a
10	chr14:104000505-104000555	AG09309	skin:	n/a
11	chr14:103996534-103996584	HRPEpiC	eye:	n/a
12	chr14:103994927-103994977	BE2_C	brain:	n/a
13	chr14:104002654-104002704	SAEC	small airway:	n/a
14	chr14:103995231-103995281	AG09309	skin:	n/a
15	chr14:104003370-104003420	NH-A	brain:	n/a
16	chr14:103995143-103995193	HCM	heart:	n/a
17	chr14:103999050-103999100	GM06990	blood:	n/a
18	chr14:103995663-103995713	SK-N-SH	brain:	n/a
19	chr14:103995630-103995680	SAEC	small airway:	n/a
20	chr14:103995361-103995411	NHDF-neo	bronchial:	n/a
21	chr14:104010865-104010915	PrEC	prostate:	n/a
22	chr14:104010865-104010915	U87	brain:	n/a
23	chr14:103996534-103996584	GM06990	blood:	n/a
24	chr14:103999050-103999100	HepG2	liver:	n/a
25	chr14:104002654-104002704	HEEpiC	esophagus:	n/a
26	chr14:103996534-103996584	HEK293	kidney:	embryo
27	chr14:103996768-103996818	GM12891	blood:	n/a
28	chr14:103995759-103995809	HNPCEpiC	eye:	n/a
29	chr14:103999050-103999100	IMR90	lung:	fetal
30	chr14:104012008-104012058	ovcar-3	ovarian:	n/a
31	chr14:103995231-103995281	SK-N-MC	brain:	n/a
32	chr14:104012008-104012058	HL-60	blood:	n/a
33	chr14:103997249-103997299	AG10803	skin:	n/a
34	chr14:104012008-104012058	BE2_C	brain:	n/a
35	chr14:104012008-104012058	HNPCEpiC	eye:	n/a
36	chr14:103995231-103995281	HepG2	liver:	n/a
37	chr14:103995231-103995281	GM12878	blood:	n/a
38	chr14:103996768-103996818	HMEC	breast:	n/a
39	chr14:104000447-104000497	HEEpiC	esophagus:	n/a
40	chr14:103994927-103994977	A549	lung:	n/a
41	chr14:103995361-103995411	NB4	blood:	n/a
42	chr14:103995143-103995193	AG04450	lung:	fetal
43	chr14:103995630-103995680	MCF-7	breast:	n/a
44	chr14:104001089-104001139	ProgFib	skin:	n/a
45	chr14:104009727-104009777	GM12891	blood:	n/a
46	chr14:104012008-104012058	AG04450	lung:	fetal
47	chr14:104000460-104000510	HRPEpiC	eye:	n/a
48	chr14:104002654-104002704	AG09319	gingival:	n/a
49	chr14:103994927-103994977	HUVEC	blood vessel:	n/a
50	chr14:103995663-103995713	MCF-7	breast:	n/a

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104007446..104009155-chr14:104027649..104030499,2	K562	blood:
2	chr14:60558814..60559777-chr14:103994985..103995928,2	Hela-S3	cervix:
3	chr14:103984576..103985603-chr14:104012806..104013775,10	K562	blood:
4	chr14:104005381..104007221-chr14:104349678..104351959,2	K562	blood:
5	chr14:103987063..103988176-chr14:104012776..104013601,3	MCF-7	breast:
6	chr14:103858408..103860033-chr14:103999938..104001765,2	K562	blood:
7	chr14:103977025..103977552-chr14:104012965..104013507,2	MCF-7	breast:
8	chr14:103801342..103804122-chr14:104010938..104012453,2	K562	blood:
9	chr14:104006138..104009668-chr14:104023103..104027300,4	K562	blood:
10	chr14:104005293..104008024-chr14:104095001..104096983,2	K562	blood:
11	chr14:103851236..103854697-chr14:103993929..103996210,3	MCF-7	breast:
12	chr14:103994796..103995496-chr19:18392061..18392693,2	HCT-116	colon:
13	chr14:104016689..104020988-chr14:104027518..104030448,6	MCF-7	breast:
14	chr14:104002192..104004863-chr14:104043017..104044904,2	K562	blood:
15	chr14:103799669..103802148-chr14:104015889..104018791,2	MCF-7	breast:
16	chr14:103991343..103994487-chr14:104021014..104023570,3	MCF-7	breast:
17	chr14:103993654..103996154-chr14:104180669..104183057,2	K562	blood:
18	chr14:103995011..103995967-chr9:138986719..138987278,2	Hela-S3	cervix:
19	chr14:103966239..103967223-chr14:104012598..104013775,9	K562	blood:
20	chr14:104013569..104015477-chr14:104021457..104023719,2	K562	blood:
21	chr14:103984597..103986282-chr14:104012561..104013842,22	MCF-7	breast:
22	chr14:104003474..104006501-chr14:104024765..104028078,3	MCF-7	breast:
23	chr14:103966852..103969165-chr14:104004136..104006723,2	MCF-7	breast:
24	chr1:935421..935993-chr14:104006660..104007419,2	Hela-S3	cervix:
25	chr14:103992721..103998040-chr14:104027797..104030842,4	MCF-7	breast:
26	chr14:103967247..103969712-chr14:104012689..104014722,2	MCF-7	breast:
27	chr12:56552118..56552624-chr14:104006836..104007485,2	Hela-S3	cervix:
28	chr14:103966209..103967132-chr14:104012771..104013734,5	MCF-7	breast:
29	chr14:104009722..104012574-chr14:104026131..104028003,2	K562	blood:
30	chr14:103964404..103966727-chr14:104006569..104008780,2	K562	blood:
31	chr14:103966734..103968731-chr14:104012541..104016540,3	MCF-7	breast:
32	chr14:103948825..103951654-chr14:103995758..103998626,2	K562	blood:
33	chr14:104014533..104016298-chr14:104025800..104028102,2	K562	blood:
34	chr14:103984635..103986409-chr14:104012608..104013744,13	MCF-7	breast:
35	chr14:103793692..103795249-chr14:104002201..104004870,2	K562	blood:
36	chr14:103987382..103988017-chr14:104013265..104013800,2	K562	blood:
37	chr14:104002894..104005189-chr14:104020540..104022849,2	K562	blood:
38	chr14:104013579..104015507-chr14:104018184..104020087,2	K562	blood:
39	chr14:103964170..103966734-chr14:104015429..104018902,3	MCF-7	breast:
40	chr14:103995545..103997122-chr14:104028296..104030375,2	K562	blood:
41	chr14:103994810..103997176-chr14:104176629..104178794,2	MCF-7	breast:
42	chr14:103992298..103994293-chr14:104026567..104028145,2	K562	blood:
43	chr14:103951483..103953028-chr14:103997135..103999306,2	MCF-7	breast:
44	chr14:103992666..103995489-chr14:104177229..104179572,2	MCF-7	breast:
45	chr14:104013318..104015138-chr14:104023392..104025223,2	MCF-7	breast:
46	chr14:103967396..103969451-chr14:104009245..104011145,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CKB-1	chr14:103991347-103995409	ENSG00000260285.1
2	lnc-TRMT61A-1	chr14:103993557-103994281	NONHSAT040175

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	TRMT61A	hsa-miR-342-3p	chr14:104002332-104002354

Variant related genes	Relation type
ENSG00000260285	TF binding region
RNU7-160P	TF binding region
TRMT61A	TF binding region
CKB	TF binding region
ENSG00000258851	TF binding region
ENSG00000260285	CpG island
RNU7-160P	CpG island
TRMT61A	CpG island
CKB	CpG island
ENSG00000258851	CpG island
ENSG00000130522	chromatin interactions
ENSG00000166165	chromatin interactions
ENSG00000100711	chromatin interactions
ENSG00000166170	chromatin interactions
ENSG00000258851	chromatin interactions
ENSG00000126215	chromatin interactions
ENSG00000148411	chromatin interactions
ENSG00000092841	chromatin interactions
ENSG00000100664	chromatin interactions
ENSG00000075413	chromatin interactions
ENSG00000256053	chromatin interactions
ENSG00000224997	chromatin interactions
ENSG00000126773	chromatin interactions
ENSG00000126214	chromatin interactions
ENSG00000188290	chromatin interactions

Extended variants
information (count: 1116 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1116 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111835085	chr14:103994273-103994274	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
2	rs551494636	chr14:103994290-103994291	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
3	rs141842684	chr14:103994358-103994359	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
4	rs190261889	chr14:103994404-103994405	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
5	rs76769257	chr14:103994415-103994416	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
6	rs561879305	chr14:103994453-103994454	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
7	rs567924336	chr14:103994468-103994469	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
8	rs150627595	chr14:103994482-103994483	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
9	rs117912553	chr14:103994527-103994528	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
10	rs77671969	chr14:103994536-103994537	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
11	rs566454056	chr14:103994542-103994543	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
12	rs182575994	chr14:103994544-103994545	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
13	rs139688434	chr14:103994581-103994582	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
14	rs575220605	chr14:103994586-103994587	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
15	rs566770083	chr14:103994620-103994621	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
16	rs35353737	chr14:103994664-103994665	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
17	rs537430022	chr14:103994666-103994667	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
18	rs117501102	chr14:103994685-103994686	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
19	rs187579485	chr14:103994720-103994721	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
20	rs540043238	chr14:103994725-103994726	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
21	rs559878015	chr14:103994742-103994743	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
22	rs528420441	chr14:103994755-103994756	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
23	rs118161504	chr14:103994763-103994764	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
24	rs545532139	chr14:103994786-103994787	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
25	rs573530617	chr14:103994822-103994823	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
26	rs565213159	chr14:103994914-103994915	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
27	rs1467561	chr14:103994961-103994962	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs193190450	chr14:103994972-103994973	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
29	rs142929414	chr14:103994977-103994978	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
30	rs558890095	chr14:103995034-103995035	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
31	rs547234746	chr14:103995042-103995043	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
32	rs571698788	chr14:103995068-103995069	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
33	rs567098393	chr14:103995147-103995148	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
34	rs377533426	chr14:103995175-103995176	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
35	rs113567703	chr14:103995321-103995322	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
36	rs111775816	chr14:103995325-103995326	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
37	rs532572918	chr14:103995334-103995335	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
38	rs552282422	chr14:103995390-103995391	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
39	rs183348993	chr14:103995405-103995406	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
40	rs537472659	chr14:103995463-103995464	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs554100110	chr14:103995475-103995476	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs2765038	chr14:103995489-103995490	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs370312039	chr14:103995495-103995496	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs553779460	chr14:103995502-103995503	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs576996356	chr14:103995543-103995544	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs545665644	chr14:103995552-103995553	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs559031225	chr14:103995591-103995592	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs575760553	chr14:103995614-103995615	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs544626270	chr14:103995620-103995621	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs561305597	chr14:103995635-103995636	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
Lung cancer	18438408	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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Cancer	17160897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1658 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103989600-103994600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:103989800-103994600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr14:103990200-103994400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr14:103990200-103994600	Enhancers	Pancreas	Pancrea
5	chr14:103990600-103994400	Enhancers	K562	blood
6	chr14:103990800-103994400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:103990800-103994600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:103990800-103994600	Enhancers	Fetal Stomach	stomach
9	chr14:103991000-103994600	Enhancers	Liver	Liver
10	chr14:103991000-103994600	Enhancers	Fetal Muscle Leg	muscle
11	chr14:103991400-103994600	Enhancers	Fetal Muscle Trunk	muscle
12	chr14:103991800-103994800	Enhancers	Fetal Heart	heart
13	chr14:103991800-103994800	Enhancers	Placenta	Placenta
14	chr14:103992200-103994600	Enhancers	Right Ventricle	heart
15	chr14:103992200-103995000	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr14:103992400-103994400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:103992400-103994400	Enhancers	Brain Anterior Caudate	brain
18	chr14:103992400-103994400	Weak transcription	Fetal Kidney	kidney
19	chr14:103992400-103994600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr14:103992400-103994600	Enhancers	Lung	lung
21	chr14:103992400-103994800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr14:103992400-103995000	Enhancers	Spleen	Spleen
23	chr14:103992600-103994400	Enhancers	Adipose Nuclei	Adipose
24	chr14:103992600-103994600	Enhancers	Primary B cells from cord blood	blood
25	chr14:103992600-103994600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:103992600-103994800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:103992800-103994600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:103992800-103994800	Enhancers	Primary B cells from peripheral blood	blood
29	chr14:103993000-103994600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr14:103993000-103994600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr14:103993000-103994800	Enhancers	Primary T cells fromperipheralblood	blood
32	chr14:103993200-103994400	Enhancers	Brain Hippocampus Middle	brain
33	chr14:103993200-103994600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:103993200-103994600	Enhancers	Colon Smooth Muscle	Colon
35	chr14:103993200-103994600	Enhancers	Placenta Amnion	Placenta Amnion
36	chr14:103993200-103995200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr14:103993400-103994400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr14:103993400-103994400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr14:103993400-103994400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:103993400-103994400	Enhancers	Brain Substantia Nigra	brain
41	chr14:103993400-103994600	Enhancers	HSMM	muscle
42	chr14:103993400-103994600	Enhancers	NHEK	skin
43	chr14:103993400-103995200	Flanking Active TSS	Osteobl	bone
44	chr14:103993600-103994600	Enhancers	Gastric	stomach
45	chr14:103993600-103994600	Enhancers	Stomach Mucosa	stomach
46	chr14:103993600-103994600	Enhancers	NH-A	brain
47	chr14:103993600-103994600	Enhancers	NHLF	lung
48	chr14:103993600-103995000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:103993600-103995200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr14:103993600-103995200	Flanking Active TSS	GM12878-XiMat	blood

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