Variant report

Variant	nsv976818
Chromosome Location	chr14:104023424-104029394
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:676)
CpG islands
(count:732)
Chromatin interactive
region (count:31)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:676 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:104028838-104029124	K562	blood:	n/a	n/a
2	ARID3A	chr14:104028209-104028400	HepG2	liver:	n/a	n/a
3	ARID3A	chr14:104028917-104029063	HepG2	liver:	n/a	n/a
4	ARID3A	chr14:104029362-104029526	HepG2	liver:	n/a	n/a
5	ATF2	chr14:104029132-104029490	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr14:104029134-104029394	GM12878	blood:	n/a	chr14:104029234-104029243
7	ATF3	chr14:104029141-104029428	K562	blood:	n/a	chr14:104029234-104029243
8	ATF3	chr14:104029171-104029564	H1-hESC	embryonic stem cell:	n/a	chr14:104029234-104029243
9	ATF3	chr14:104028780-104029532	GM12878	blood:	n/a	chr14:104029234-104029243
10	ATF3	chr14:104028995-104029570	HepG2	liver:	n/a	chr14:104029234-104029243
11	ATF3	chr14:104028878-104029472	HepG2	liver:	n/a	chr14:104029234-104029243
12	ATF3	chr14:104028809-104029117	K562	blood:	n/a	n/a
13	ATF3	chr14:104029078-104029482	H1-hESC	embryonic stem cell:	n/a	chr14:104029234-104029243
14	BACH1	chr14:104028884-104029072	H1-hESC	embryonic stem cell:	n/a	n/a
15	BCLAF1	chr14:104028780-104029158	GM12878	blood:	n/a	chr14:104029027-104029040 chr14:104029026-104029039
16	BHLHE40	chr14:104028808-104029541	GM12878	blood:	n/a	chr14:104028838-104028854 chr14:104029112-104029128
17	BHLHE40	chr14:104028266-104028499	K562	blood:	n/a	n/a
18	BHLHE40	chr14:104028104-104028437	GM12878	blood:	n/a	n/a
19	BHLHE40	chr14:104028856-104029392	K562	blood:	n/a	chr14:104029112-104029128
20	BRCA1	chr14:104028803-104029566	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr14:104028819-104029477	GM12878	blood:	n/a	n/a
22	BRCA1	chr14:104028915-104029405	H1-hESC	embryonic stem cell:	n/a	n/a
23	CCNT2	chr14:104028710-104029644	K562	blood:	n/a	chr14:104029035-104029044 chr14:104028788-104028797
24	CEBPB	chr14:104024563-104025234	ECC-1	luminal epithelium:	n/a	chr14:104024580-104024591
25	CEBPB	chr14:104024369-104024918	IMR90	lung:	n/a	chr14:104024580-104024591
26	CEBPB	chr14:104025862-104026059	HepG2	liver:	n/a	n/a
27	CEBPB	chr14:104024457-104024813	HepG2	liver:	n/a	chr14:104024580-104024591
28	CEBPB	chr14:104024451-104024760	A549	lung:	n/a	chr14:104024580-104024591
29	CEBPB	chr14:104028612-104029732	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr14:104029194-104029366	HepG2	liver:	n/a	n/a
31	CEBPB	chr14:104024499-104024773	K562	blood:	n/a	chr14:104024580-104024591
32	CEBPB	chr14:104029155-104029351	HepG2	liver:	n/a	n/a
33	CEBPD	chr14:104028932-104029310	HepG2	liver:	n/a	n/a
34	CHD1	chr14:104028758-104029003	GM12878	blood:	n/a	n/a
35	CHD2	chr14:104028318-104028409	HepG2	liver:	n/a	n/a
36	CHD2	chr14:104028783-104029383	HepG2	liver:	n/a	chr14:104029283-104029293
37	CHD2	chr14:104028774-104029654	H1-hESC	embryonic stem cell:	n/a	chr14:104029283-104029293
38	CHD2	chr14:104028492-104029688	Hela-S3	cervix:	n/a	chr14:104028711-104028721 chr14:104029283-104029293
39	CHD2	chr14:104027988-104028292	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr14:104028267-104029838	GM12878	blood:	n/a	chr14:104028711-104028721 chr14:104029283-104029293
41	CHD2	chr14:104028772-104029708	K562	blood:	n/a	chr14:104029283-104029293
42	CREB1	chr14:104028735-104029520	ECC-1	luminal epithelium:	n/a	n/a
43	CREB1	chr14:104027540-104028133	H1-hESC	embryonic stem cell:	n/a	n/a
44	CREB1	chr14:104028572-104029509	H1-hESC	embryonic stem cell:	n/a	n/a
45	CREB1	chr14:104028691-104029617	K562	blood:	n/a	n/a
46	CREB1	chr14:104028414-104029573	A549	lung:	n/a	n/a
47	CREB1	chr14:104028457-104029634	K562	blood:	n/a	n/a
48	CREB1	chr14:104027594-104028041	H1-hESC	embryonic stem cell:	n/a	n/a
49	CREB1	chr14:104028599-104029483	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr14:104028823-104029349	A549	lung:	n/a	n/a

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:104026839-104026889	MCF-7	breast:	n/a
2	chr14:104029029-104029079	AoSMC	blood vessel:	n/a
3	chr14:104028616-104028666	GM12878	blood:	n/a
4	chr14:104027293-104027343	SK-N-SH_RA	brain:	n/a
5	chr14:104028616-104028666	PANC-1	pancreas:	n/a
6	chr14:104026955-104027005	T-47D	breast:	n/a
7	chr14:104028524-104028574	Hela-S3	cervix:	n/a
8	chr14:104027293-104027343	NHDF-neo	bronchial:	n/a
9	chr14:104027995-104028045	NHDF-neo	bronchial:	n/a
10	chr14:104028889-104028939	GM12892	blood:	n/a
11	chr14:104024505-104024555	IMR90	lung:	fetal
12	chr14:104026912-104026962	AG10803	skin:	n/a
13	chr14:104027293-104027343	AoSMC	blood vessel:	n/a
14	chr14:104029029-104029079	HAEpiC	amniotic membrane:	n/a
15	chr14:104028889-104028939	ovcar-3	ovarian:	n/a
16	chr14:104026839-104026889	K562	blood:	n/a
17	chr14:104029012-104029062	NHDF-neo	bronchial:	n/a
18	chr14:104026839-104026889	HepG2	liver:	n/a
19	chr14:104027995-104028045	NB4	blood:	n/a
20	chr14:104028314-104028364	AG09319	gingival:	n/a
21	chr14:104029029-104029079	A549	lung:	n/a
22	chr14:104027995-104028045	AG04449	skin:	fetal
23	chr14:104026955-104027005	GM12892	blood:	n/a
24	chr14:104028524-104028574	HMEC	breast:	n/a
25	chr14:104029029-104029079	T-47D	breast:	n/a
26	chr14:104028524-104028574	SKMC	muscle:	n/a
27	chr14:104027995-104028045	RPTEC	kidney:	n/a
28	chr14:104026912-104026962	SK-N-SH	brain:	n/a
29	chr14:104028314-104028364	NT2-D1	testis:	n/a
30	chr14:104028524-104028574	MCF10A-Er-Src	breast:	n/a
31	chr14:104026912-104026962	GM19239	blood:	n/a
32	chr14:104028889-104028939	LNCaP	prostate:	n/a
33	chr14:104026955-104027005	NB4	blood:	n/a
34	chr14:104028314-104028364	RPTEC	kidney:	n/a
35	chr14:104027293-104027343	PFSK-1	brain:	n/a
36	chr14:104026839-104026889	ProgFib	skin:	n/a
37	chr14:104028616-104028666	Hepatocyte	liver:	n/a
38	chr14:104028889-104028939	HepG2	liver:	n/a
39	chr14:104026955-104027005	HEK293	kidney:	embryo
40	chr14:104028889-104028939	NB4	blood:	n/a
41	chr14:104028524-104028574	IMR90	lung:	fetal
42	chr14:104024505-104024555	AoSMC	blood vessel:	n/a
43	chr14:104026955-104027005	AG04450	lung:	fetal
44	chr14:104027995-104028045	U87	brain:	n/a
45	chr14:104029012-104029062	AG04450	lung:	fetal
46	chr14:104026839-104026889	T-47D	breast:	n/a
47	chr14:104024505-104024555	GM12878	blood:	n/a
48	chr14:104026912-104026962	NB4	blood:	n/a
49	chr14:104026955-104027005	HPAEpiC	pulmonary alveolar:	n/a
50	chr14:104028314-104028364	Jurkat	blood:	n/a

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:103983696..103988397-chr14:104026059..104029809,6	K562	blood:
2	chr14:104018005..104022715-chr14:104023184..104028959,7	K562	blood:
3	chr14:104027610..104029440-chr14:104145265..104147418,2	MCF-7	breast:
4	chr14:103994761..103998010-chr14:104025196..104027257,4	MCF-7	breast:
5	chr14:104024628..104026145-chr14:104094504..104096844,2	K562	blood:
6	chr12:110718494..110719375-chr14:104028700..104029355,2	Hela-S3	cervix:
7	chr14:104028570..104029503-chr9:113018763..113019759,2	Hela-S3	cervix:
8	chr14:104027886..104033252-chr14:104178637..104183670,7	MCF-7	breast:
9	chr14:103985364..103989946-chr14:104026445..104030227,8	MCF-7	breast:
10	chr14:104013569..104015477-chr14:104021457..104023719,2	K562	blood:
11	chr14:103799415..103801924-chr14:104027086..104029565,3	MCF-7	breast:
12	chr14:104027275..104029645-chr9:131939860..131941591,2	MCF-7	breast:
13	chr14:103991343..103994487-chr14:104021014..104023570,3	MCF-7	breast:
14	chr14:104022023..104026446-chr14:104027134..104030443,10	MCF-7	breast:
15	chr14:104022338..104024927-chr14:104181805..104183745,2	MCF-7	breast:
16	chr14:103992721..103998040-chr14:104027797..104030842,4	MCF-7	breast:
17	chr14:104026767..104030601-chr14:104092111..104097061,5	MCF-7	breast:
18	chr14:103995545..103997122-chr14:104028296..104030375,2	K562	blood:
19	chr14:104026845..104031617-chr14:104090112..104098528,12	MCF-7	breast:
20	chr14:103798179..103801931-chr14:104023610..104026874,4	MCF-7	breast:
21	chr14:104021728..104024444-chr14:104089391..104091550,2	K562	blood:
22	chr14:104026574..104032100-chr14:104033737..104038565,9	MCF-7	breast:
23	chr14:104027061..104029959-chr14:104033088..104037337,3	K562	blood:
24	chr14:104014533..104016298-chr14:104025800..104028102,2	K562	blood:
25	chr14:104009722..104012574-chr14:104026131..104028003,2	K562	blood:
26	chr14:104013318..104015138-chr14:104023392..104025223,2	MCF-7	breast:
27	chr14:103992298..103994293-chr14:104026567..104028145,2	K562	blood:
28	chr14:104006138..104009668-chr14:104023103..104027300,4	K562	blood:
29	chr14:104003474..104006501-chr14:104024765..104028078,3	MCF-7	breast:
30	chr14:104026026..104030833-chr14:104180410..104184978,6	MCF-7	breast:
31	chr14:104016689..104020988-chr14:104027518..104030448,6	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLC1-1	chr14:104028104-104028214	ENSG00000258851.1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	BAG5	hsa-miR-124-3p	chr14:104024837-104024856
2	BAG5	hsa-miR-155-5p	chr14:104025851-104025844
3	BAG5	hsa-miR-155-5p	chr14:104025845-104025867

Variant related genes	Relation type
KLC1	TF binding region
BAG5	TF binding region
RNU4-68P	TF binding region
APOPT1	TF binding region
ENSG00000256500	TF binding region
KLC1	CpG island
BAG5	CpG island
RNU4-68P	CpG island
APOPT1	CpG island
ENSG00000256500	CpG island
ENSG00000100664	chromatin interactions
ENSG00000126214	chromatin interactions
ENSG00000166166	chromatin interactions
ENSG00000166170	chromatin interactions
ENSG00000174437	chromatin interactions
ENSG00000260285	chromatin interactions
ENSG00000258851	chromatin interactions
ENSG00000256053	chromatin interactions
ENSG00000100711	chromatin interactions
ENSG00000126215	chromatin interactions
ENSG00000136810	chromatin interactions
ENSG00000166165	chromatin interactions
ENSG00000269963	chromatin interactions
ENSG00000201184	chromatin interactions
ENSG00000259775	chromatin interactions
ENSG00000188483	chromatin interactions

Extended variants
information (count: 265 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541392203	chr14:104023474-104023475	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs549861501	chr14:104023531-104023532	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs569552550	chr14:104023587-104023588	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs140487109	chr14:104023615-104023616	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs115806220	chr14:104023622-104023623	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs538305515	chr14:104023640-104023641	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs7693	chr14:104023704-104023705	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs534611553	chr14:104023706-104023707	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs557573684	chr14:104023715-104023716	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs117187191	chr14:104023716-104023717	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs539551587	chr14:104023787-104023788	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs556209429	chr14:104023796-104023797	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs576372497	chr14:104023862-104023863	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs542240995	chr14:104023965-104023966	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs185060106	chr14:104023983-104023984	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs535440440	chr14:104023990-104023991	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs376310374	chr14:104024021-104024022	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs189437060	chr14:104024040-104024041	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs144332090	chr14:104024056-104024057	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs181074140	chr14:104024098-104024099	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs370568382	chr14:104024102-104024103	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs543558469	chr14:104024171-104024172	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs563431329	chr14:104024228-104024229	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs375431530	chr14:104024245-104024246	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs367576472	chr14:104024283-104024284	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs79388255	chr14:104024307-104024308	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs546768477	chr14:104024335-104024336	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs549010369	chr14:104024371-104024372	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs141137656	chr14:104024374-104024375	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs560467581	chr14:104024384-104024385	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs150285122	chr14:104024423-104024424	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs551217744	chr14:104024445-104024446	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs571133009	chr14:104024451-104024452	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs73361317	chr14:104024473-104024474	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs185131504	chr14:104024493-104024494	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs540868082	chr14:104024681-104024682	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs144892413	chr14:104024686-104024687	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs555771659	chr14:104024718-104024719	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs565326816	chr14:104024736-104024737	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs149017246	chr14:104024745-104024746	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs143593209	chr14:104024767-104024768	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs558461485	chr14:104024802-104024803	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs578246344	chr14:104024831-104024832	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs544058555	chr14:104024864-104024865	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs143809081	chr14:104024867-104024868	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs573721371	chr14:104024904-104024905	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs138438048	chr14:104024929-104024930	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs559305464	chr14:104024934-104024935	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs191224625	chr14:104024941-104024942	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs369768890	chr14:104024961-104024962	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
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	18451855	CNVD

Chromatin state (count:711 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104007200-104024400	Weak transcription	Fetal Kidney	kidney
2	chr14:104010000-104023600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:104010200-104023600	Weak transcription	Liver	Liver
4	chr14:104010400-104023600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr14:104010600-104024200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:104010600-104025000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr14:104011400-104025000	Weak transcription	Ovary	ovary
8	chr14:104011400-104027800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:104013200-104024600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr14:104013600-104023600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr14:104013600-104024200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:104013600-104027600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:104013800-104024600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr14:104017400-104024400	Weak transcription	HepG2	liver
15	chr14:104017400-104024800	Weak transcription	GM12878-XiMat	blood
16	chr14:104017400-104025800	Weak transcription	Fetal Brain Male	brain
17	chr14:104017600-104027200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:104017800-104024800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr14:104018200-104024400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr14:104018200-104026200	Weak transcription	Pancreas	Pancrea
21	chr14:104018200-104026400	Weak transcription	Small Intestine	intestine
22	chr14:104018600-104023600	Weak transcription	Brain Germinal Matrix	brain
23	chr14:104018600-104024400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:104019000-104026800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr14:104019200-104024400	Enhancers	Colon Smooth Muscle	Colon
26	chr14:104019200-104024800	Weak transcription	Hela-S3	cervix
27	chr14:104019200-104026200	Weak transcription	Aorta	Aorta
28	chr14:104019200-104027600	Weak transcription	Colonic Mucosa	Colon
29	chr14:104019400-104023600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:104019400-104023600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr14:104019400-104023600	Weak transcription	Right Atrium	heart
32	chr14:104019400-104023600	Weak transcription	NHLF	lung
33	chr14:104019400-104024400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr14:104019400-104024400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:104019400-104024400	Weak transcription	HSMM	muscle
36	chr14:104019400-104025000	Weak transcription	A549	lung
37	chr14:104019400-104026200	Weak transcription	Esophagus	oesophagus
38	chr14:104019600-104023800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:104019600-104024200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr14:104019600-104024400	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr14:104019600-104024600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr14:104019800-104024400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr14:104019800-104024600	Weak transcription	HMEC	breast
44	chr14:104019800-104025000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr14:104019800-104027600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr14:104020000-104024800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr14:104020800-104026800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr14:104021000-104024800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:104021400-104023600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr14:104021600-104023800	Weak transcription	Primary T cells from cord blood	blood

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