Variant report

Variant	nsv960376
Chromosome Location	chr16:81170217-81214783
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:833)
CpG islands
(count:366)
Chromatin interactive
region (count:48)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:833 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:81208937-81209198	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:81214625-81215127	HepG2	liver:	n/a	n/a
3	ATF3	chr16:81208842-81209330	A549	lung:	n/a	n/a
4	ATF3	chr16:81214756-81215189	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr16:81175001-81175341	K562	blood:	n/a	n/a
6	BACH1	chr16:81189210-81189228	K562	blood:	n/a	n/a
7	BACH1	chr16:81174746-81175382	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL3	chr16:81199974-81200763	GM12878	blood:	n/a	n/a
9	BCL3	chr16:81199969-81200597	GM12878	blood:	n/a	n/a
10	BCL3	chr16:81206697-81207272	GM12878	blood:	n/a	chr16:81207055-81207064 chr16:81207056-81207065
11	BCL3	chr16:81206605-81207349	GM12878	blood:	n/a	chr16:81207055-81207064 chr16:81207056-81207065
12	BHLHE40	chr16:81204462-81204796	HepG2	liver:	n/a	n/a
13	BHLHE40	chr16:81170170-81170518	HepG2	liver:	n/a	chr16:81170312-81170321
14	BHLHE40	chr16:81200163-81200265	K562	blood:	n/a	n/a
15	BHLHE40	chr16:81204484-81204816	HepG2	liver:	n/a	n/a
16	BHLHE40	chr16:81214654-81214874	K562	blood:	n/a	n/a
17	BHLHE40	chr16:81204595-81204730	K562	blood:	n/a	n/a
18	BHLHE40	chr16:81170261-81170322	K562	blood:	n/a	chr16:81170312-81170321
19	BRCA1	chr16:81200424-81200502	GM12878	blood:	n/a	n/a
20	CBX3	chr16:81177298-81178299	HCT-116	colon:	n/a	n/a
21	CBX3	chr16:81214767-81215170	K562	blood:	n/a	n/a
22	CBX3	chr16:81174969-81175313	K562	blood:	n/a	n/a
23	CBX3	chr16:81177278-81178302	HCT-116	colon:	n/a	n/a
24	CEBPB	chr16:81214310-81214500	K562	blood:	n/a	chr16:81214389-81214400
25	CEBPB	chr16:81214247-81214537	HepG2	liver:	n/a	chr16:81214389-81214400
26	CEBPB	chr16:81208363-81208892	IMR90	lung:	n/a	n/a
27	CEBPB	chr16:81214776-81215186	IMR90	lung:	n/a	chr16:81214955-81214966
28	CEBPB	chr16:81180062-81180209	HepG2	liver:	n/a	n/a
29	CEBPB	chr16:81214734-81215288	MCF-7	breast:	n/a	chr16:81214955-81214966
30	CEBPB	chr16:81177379-81178318	MCF-7	breast:	n/a	n/a
31	CEBPB	chr16:81177423-81178286	MCF-7	breast:	n/a	n/a
32	CEBPB	chr16:81214340-81215239	Hela-S3	cervix:	n/a	chr16:81214955-81214966 chr16:81214389-81214400
33	CEBPB	chr16:81172505-81172638	K562	blood:	n/a	n/a
34	CEBPB	chr16:81214783-81215186	A549	lung:	n/a	chr16:81214955-81214966
35	CEBPB	chr16:81177405-81178293	HCT-116	colon:	n/a	n/a
36	CEBPB	chr16:81177444-81178184	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr16:81175038-81175238	HepG2	liver:	n/a	n/a
38	CEBPB	chr16:81177354-81178428	HCT-116	colon:	n/a	n/a
39	CEBPB	chr16:81208405-81208990	A549	lung:	n/a	n/a
40	CEBPB	chr16:81179993-81180304	HepG2	liver:	n/a	n/a
41	CEBPB	chr16:81214256-81214529	IMR90	lung:	n/a	chr16:81214389-81214400
42	CEBPB	chr16:81202508-81202691	A549	lung:	n/a	n/a
43	CEBPB	chr16:81214202-81215198	A549	lung:	n/a	chr16:81214955-81214966 chr16:81214389-81214400
44	CEBPB	chr16:81175032-81175221	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr16:81214342-81214519	H1-hESC	embryonic stem cell:	n/a	chr16:81214389-81214400
46	CHD2	chr16:81175179-81175253	K562	blood:	n/a	n/a
47	CHD2	chr16:81174697-81174833	HepG2	liver:	n/a	n/a
48	CHD2	chr16:81214714-81215140	H1-hESC	embryonic stem cell:	n/a	n/a
49	CREB1	chr16:81174880-81175333	A549	lung:	n/a	n/a
50	CREB1	chr16:81214652-81215083	A549	lung:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:81190494-81190544	ECC-1	luminal epithelium:	n/a
2	chr16:81190494-81190544	SK-N-SH	brain:	n/a
3	chr16:81190494-81190544	ProgFib	skin:	n/a
4	chr16:81190750-81190800	HRPEpiC	eye:	n/a
5	chr16:81214503-81214553	LNCaP	prostate:	n/a
6	chr16:81170527-81170577	HMEC	breast:	n/a
7	chr16:81170527-81170577	GM06990	blood:	n/a
8	chr16:81190750-81190800	Hepatocyte	liver:	n/a
9	chr16:81208471-81208521	HCM	heart:	n/a
10	chr16:81190547-81190597	SK-N-SH_RA	brain:	n/a
11	chr16:81170527-81170577	NT2-D1	testis:	n/a
12	chr16:81170527-81170577	NH-A	brain:	n/a
13	chr16:81190750-81190800	K562	blood:	n/a
14	chr16:81190494-81190544	Caco-2	colon:	n/a
15	chr16:81214503-81214553	MCF10A-Er-Src	breast:	n/a
16	chr16:81190494-81190544	PFSK-1	brain:	n/a
17	chr16:81190547-81190597	BE2_C	brain:	n/a
18	chr16:81190494-81190544	T-47D	breast:	n/a
19	chr16:81190750-81190800	GM19239	blood:	n/a
20	chr16:81190547-81190597	NH-A	brain:	n/a
21	chr16:81208471-81208521	NH-A	brain:	n/a
22	chr16:81190750-81190800	NHBE	bronchial:	n/a
23	chr16:81190750-81190800	A549	lung:	n/a
24	chr16:81190750-81190800	ECC-1	luminal epithelium:	n/a
25	chr16:81170527-81170577	HCM	heart:	n/a
26	chr16:81190750-81190800	BE2_C	brain:	n/a
27	chr16:81170527-81170577	NHDF-neo	bronchial:	n/a
28	chr16:81208471-81208521	ECC-1	luminal epithelium:	n/a
29	chr16:81190750-81190800	AG09319	gingival:	n/a
30	chr16:81208471-81208521	Hepatocyte	liver:	n/a
31	chr16:81208471-81208521	K562	blood:	n/a
32	chr16:81190750-81190800	Hela-S3	cervix:	n/a
33	chr16:81190547-81190597	HEK293	kidney:	embryo
34	chr16:81190494-81190544	LNCaP	prostate:	n/a
35	chr16:81170527-81170577	HCT-116	colon:	n/a
36	chr16:81190547-81190597	SAEC	small airway:	n/a
37	chr16:81190494-81190544	CMK	blood:	n/a
38	chr16:81190494-81190544	AG09319	gingival:	n/a
39	chr16:81170527-81170577	HRE	kidney:	n/a
40	chr16:81190494-81190544	GM12878	blood:	n/a
41	chr16:81190750-81190800	MCF-7	breast:	n/a
42	chr16:81190547-81190597	HCF	heart:	n/a
43	chr16:81190750-81190800	AoSMC	blood vessel:	n/a
44	chr16:81170527-81170577	HPAEpiC	pulmonary alveolar:	n/a
45	chr16:81170527-81170577	RPTEC	kidney:	n/a
46	chr16:81170527-81170577	LNCaP	prostate:	n/a
47	chr16:81190547-81190597	ECC-1	luminal epithelium:	n/a
48	chr16:81214503-81214553	HCM	heart:	n/a
49	chr16:81208471-81208521	RPTEC	kidney:	n/a
50	chr16:81170527-81170577	A549	lung:	n/a

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71843029..71844532-chr16:81169189..81171698,2	MCF-7	breast:
2	chr16:81168888..81171592-chr16:81175504..81177098,2	MCF-7	breast:
3	chr16:81068588..81070297-chr16:81206270..81208917,2	MCF-7	breast:
4	chr16:81187277..81187855-chr16:81231986..81232826,2	MCF-7	breast:
5	chr16:81194645..81197115-chr16:81199955..81201800,2	MCF-7	breast:
6	chr16:81208169..81210421-chr16:81211002..81212968,2	MCF-7	breast:
7	chr16:81207703..81209401-chr16:81309474..81311615,2	MCF-7	breast:
8	chr16:81109182..81113855-chr16:81207453..81212433,5	MCF-7	breast:
9	chr16:81202808..81207445-chr16:81207542..81212680,8	MCF-7	breast:
10	chr16:81207788..81211808-chr16:81213340..81216350,7	MCF-7	breast:
11	chr16:81203969..81206813-chr16:81207066..81208613,2	MCF-7	breast:
12	chr16:81208169..81210421-chr16:81211002..81212968,2	MCF-7	breast:
13	chr16:81172499..81173473-chr16:81231950..81233302,5	MCF-7	breast:
14	chr16:81202808..81207445-chr16:81207542..81212680,8	MCF-7	breast:
15	chr16:81167266..81170181-chr16:81212814..81215037,2	MCF-7	breast:
16	chr16:81206765..81209231-chr16:81209316..81211675,3	K562	blood:
17	chr16:81191490..81193382-chr16:81194384..81196208,2	MCF-7	breast:
18	chr16:81206690..81208975-chr16:81216365..81218786,2	K562	blood:
19	chr16:81187279..81187784-chr16:81232060..81232954,2	MCF-7	breast:
20	chr16:81177178..81179005-chr16:81180841..81182912,2	MCF-7	breast:
21	chr16:81198299..81202388-chr16:81206238..81210015,4	K562	blood:
22	chr16:81176050..81179014-chr16:81206703..81209353,3	MCF-7	breast:
23	chr16:81068581..81070765-chr16:81177689..81179201,2	MCF-7	breast:
24	chr1:152741230..152741815-chr16:81212739..81213485,2	MCF-7	breast:
25	chr16:81128511..81130849-chr16:81169835..81172966,4	MCF-7	breast:
26	chr16:81068969..81069788-chr16:81189009..81189664,3	MCF-7	breast:
27	chr16:81189500..81193417-chr16:81196908..81199749,3	K562	blood:
28	chr16:81191490..81193382-chr16:81194384..81196208,2	MCF-7	breast:
29	chr16:81194645..81197115-chr16:81199955..81201800,2	MCF-7	breast:
30	chr16:81163789..81165490-chr16:81205338..81207838,2	MCF-7	breast:
31	chr16:81207814..81210316-chr16:81213416..81216125,2	MCF-7	breast:
32	chr16:81181423..81183511-chr16:81191451..81193447,2	MCF-7	breast:
33	chr16:81189500..81193417-chr16:81196908..81199749,3	K562	blood:
34	chr16:81206765..81209231-chr16:81209316..81211675,3	K562	blood:
35	chr16:81176050..81179014-chr16:81206703..81209353,3	MCF-7	breast:
36	chr16:81177178..81179005-chr16:81180841..81182912,2	MCF-7	breast:
37	chr16:81203969..81206813-chr16:81207066..81208613,2	MCF-7	breast:
38	chr16:81181423..81183511-chr16:81191451..81193447,2	MCF-7	breast:
39	chr16:81198299..81202388-chr16:81206238..81210015,4	K562	blood:
40	chr16:81170203..81172478-chr16:81173151..81175133,2	MCF-7	breast:
41	chr16:81110384..81110935-chr16:81169785..81170782,2	MCF-7	breast:
42	chr16:81172576..81173403-chr16:81248138..81248840,3	MCF-7	breast:
43	chr16:81177157..81179228-chr16:81223964..81225695,2	MCF-7	breast:
44	chr16:81208882..81211862-chr16:81326884..81329141,2	K562	blood:
45	chr16:81174893..81175517-chr16:81231737..81232731,3	MCF-7	breast:
46	chr16:81210104..81212306-chr16:83838757..83840281,2	MCF-7	breast:
47	chr16:81078751..81080848-chr16:81181095..81182686,2	K562	blood:
48	chr16:81068953..81069797-chr16:81176232..81177093,2	K562	blood:

No data

Variant related genes	Relation type
PKD1L2	TF binding region
PKD1L2	CpG island
ENSG00000166454	chromatin interactions
ENSG00000166473	chromatin interactions
ENSG00000166747	chromatin interactions
ENSG00000260213	chromatin interactions
ENSG00000245059	chromatin interactions
ENSG00000140905	chromatin interactions
ENSG00000166455	chromatin interactions
ENSG00000260228	chromatin interactions

Extended variants
information (count: 3290 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:3290 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562229251	chr16:81170217-81170218	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs16954751	chr16:81170256-81170257	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs116841508	chr16:81170295-81170296	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs7204299	chr16:81170299-81170300	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs531562125	chr16:81170317-81170318	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs549882582	chr16:81170327-81170328	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs186989833	chr16:81170340-81170341	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs35970281	chr16:81170355-81170356	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs539807385	chr16:81170376-81170377	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs76446102	chr16:81170381-81170382	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs7185427	chr16:81170391-81170392	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs142650632	chr16:81170417-81170418	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs369976623	chr16:81170470-81170471	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs536923755	chr16:81170472-81170473	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs116582254	chr16:81170482-81170483	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs576470985	chr16:81170505-81170506	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs569692705	chr16:81170520-81170521	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs191459146	chr16:81170528-81170529	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs372352219	chr16:81170537-81170538	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs576864481	chr16:81170542-81170543	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs7186491	chr16:81170546-81170547	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs575840899	chr16:81170578-81170579	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs151007866	chr16:81170579-81170580	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs182262361	chr16:81170599-81170600	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs77233548	chr16:81170603-81170604	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs117582927	chr16:81170607-81170608	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs576028270	chr16:81170616-81170617	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs543368828	chr16:81170620-81170621	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs565275850	chr16:81170624-81170625	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs140908073	chr16:81170636-81170637	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs574415615	chr16:81170680-81170681	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs547701400	chr16:81170698-81170699	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs56175532	chr16:81170712-81170713	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs56038702	chr16:81170713-81170714	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs188075168	chr16:81170736-81170737	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs11863750	chr16:81170741-81170742	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs193229289	chr16:81170742-81170743	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs150134744	chr16:81170758-81170759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs563224689	chr16:81170772-81170773	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs570484138	chr16:81170781-81170782	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs376540682	chr16:81170784-81170785	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs373812199	chr16:81170805-81170806	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs77972477	chr16:81170824-81170825	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs76082482	chr16:81170853-81170854	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs574311910	chr16:81170871-81170872	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs540149808	chr16:81170876-81170877	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs531933703	chr16:81170891-81170892	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs535224078	chr16:81170900-81170901	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs551527080	chr16:81170902-81170903	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs143317993	chr16:81170943-81170944	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:506 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81130000-81187600	Weak transcription	Right Atrium	heart
2	chr16:81151400-81173000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:81154000-81198800	Weak transcription	Right Ventricle	heart
4	chr16:81155400-81174600	Weak transcription	Left Ventricle	heart
5	chr16:81163800-81170600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr16:81165800-81174800	Weak transcription	Spleen	Spleen
7	chr16:81167200-81181000	Enhancers	Placenta	Placenta
8	chr16:81168800-81174000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr16:81169600-81170400	Enhancers	Brain Hippocampus Middle	brain
10	chr16:81169600-81170400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr16:81169600-81170600	Enhancers	Brain Cingulate Gyrus	brain
12	chr16:81169600-81171200	Enhancers	Fetal Brain Female	brain
13	chr16:81169600-81171600	Enhancers	Brain Germinal Matrix	brain
14	chr16:81169600-81171600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr16:81169600-81171800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr16:81169600-81171800	Enhancers	Fetal Brain Male	brain
17	chr16:81169600-81173400	Enhancers	Adipose Nuclei	Adipose
18	chr16:81169800-81170400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr16:81169800-81170600	Enhancers	HepG2	liver
20	chr16:81169800-81170800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr16:81169800-81171000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr16:81169800-81171000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr16:81169800-81171200	Enhancers	Fetal Muscle Leg	muscle
24	chr16:81169800-81171200	Enhancers	Ovary	ovary
25	chr16:81169800-81171400	Enhancers	Fetal Lung	lung
26	chr16:81169800-81171400	Enhancers	A549	lung
27	chr16:81169800-81171600	Enhancers	Fetal Stomach	stomach
28	chr16:81170000-81170400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr16:81170000-81170800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:81170000-81171200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr16:81170000-81171600	Enhancers	Fetal Muscle Trunk	muscle
32	chr16:81170000-81173000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr16:81170000-81174600	Weak transcription	Esophagus	oesophagus
34	chr16:81170200-81170400	Flanking Active TSS	NHDF-Ad	bronchial
35	chr16:81170200-81170400	Enhancers	Osteobl	bone
36	chr16:81170200-81170800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr16:81170200-81170800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr16:81170200-81170800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr16:81170200-81170800	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr16:81170200-81170800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
41	chr16:81170200-81171000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr16:81170200-81171000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr16:81170200-81171000	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr16:81170200-81171000	Enhancers	Colon Smooth Muscle	Colon
45	chr16:81170200-81171000	Enhancers	Placenta Amnion	Placenta Amnion
46	chr16:81170200-81171200	Flanking Active TSS	Brain Substantia Nigra	brain
47	chr16:81170200-81171200	Enhancers	HMEC	breast
48	chr16:81170200-81171400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr16:81170400-81170600	Active TSS	NHDF-Ad	bronchial
50	chr16:81170400-81170600	Flanking Active TSS	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links