Variant report

Variant	esv3400505
Chromosome Location	chr16:70718476-70721024
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:361)
CpG islands
(count:612)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr16:70719798-70720136	K562	blood:	n/a	chr16:70720000-70720009 chr16:70719988-70720008
2	ATF3	chr16:70719875-70720111	HepG2	liver:	n/a	chr16:70720000-70720009 chr16:70719988-70720008
3	BACH1	chr16:70719910-70720474	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr16:70719312-70719513	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr16:70719910-70720275	GM12878	blood:	n/a	chr16:70720004-70720013 chr16:70720001-70720010 chr16:70720041-70720054
6	BCL3	chr16:70719867-70720618	A549	lung:	n/a	chr16:70720296-70720305 chr16:70720004-70720013 chr16:70720001-70720010 chr16:70720041-70720054
7	BHLHE40	chr16:70719789-70720182	K562	blood:	n/a	n/a
8	BHLHE40	chr16:70720928-70721497	K562	blood:	n/a	n/a
9	BHLHE40	chr16:70719828-70721453	HepG2	liver:	n/a	n/a
10	BRCA1	chr16:70719326-70719329	HepG2	liver:	n/a	n/a
11	CBX3	chr16:70719896-70720161	K562	blood:	n/a	n/a
12	CCNT2	chr16:70719419-70720258	K562	blood:	n/a	n/a
13	CEBPB	chr16:70718830-70719030	K562	blood:	n/a	n/a
14	CEBPB	chr16:70718852-70719059	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr16:70718755-70718995	HepG2	liver:	n/a	n/a
16	CEBPB	chr16:70718756-70719015	IMR90	lung:	n/a	n/a
17	CEBPD	chr16:70719875-70720211	K562	blood:	n/a	n/a
18	CEBPD	chr16:70719740-70720319	HepG2	liver:	n/a	n/a
19	CEBPD	chr16:70719875-70720201	HepG2	liver:	n/a	n/a
20	CEBPD	chr16:70720473-70720743	HepG2	liver:	n/a	n/a
21	CHD1	chr16:70720196-70720209	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD1	chr16:70718330-70720779	IMR90	lung:	n/a	n/a
23	CHD2	chr16:70719982-70720133	HepG2	liver:	n/a	n/a
24	CHD2	chr16:70719989-70720189	K562	blood:	n/a	n/a
25	CHD2	chr16:70718977-70718985	HepG2	liver:	n/a	n/a
26	CHD2	chr16:70719196-70719272	K562	blood:	n/a	n/a
27	CHD2	chr16:70719473-70720186	Hela-S3	cervix:	n/a	n/a
28	CREB1	chr16:70719773-70720205	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr16:70718817-70720776	HepG2	liver:	n/a	n/a
30	CREB1	chr16:70719733-70720239	H1-hESC	embryonic stem cell:	n/a	n/a
31	CREB1	chr16:70719291-70720187	K562	blood:	n/a	n/a
32	CREB1	chr16:70719413-70720217	A549	lung:	n/a	n/a
33	CTCF	chr16:70720360-70720510	HBMEC	blood vessel:	n/a	n/a
34	CTCF	chr16:70720120-70720270	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr16:70720380-70720530	Caco-2	colon:	n/a	n/a
36	CTCF	chr16:70719500-70719650	SK-N-SH_RA	brain:	n/a	n/a
37	E2F1	chr16:70719289-70720349	Hela-S3	cervix:	n/a	chr16:70719341-70719348
38	E2F4	chr16:70719910-70720212	MCF10A-Er-Src	breast:	n/a	n/a
39	E2F6	chr16:70719423-70720182	K562	blood:	n/a	chr16:70720027-70720038
40	E2F6	chr16:70719347-70720236	K562	blood:	n/a	chr16:70720027-70720038
41	E2F6	chr16:70719828-70720098	K562	blood:	n/a	chr16:70720027-70720038
42	E2F6	chr16:70719622-70719826	K562	blood:	n/a	n/a
43	E2F6	chr16:70719887-70720216	A549	lung:	n/a	chr16:70720027-70720038
44	EGR1	chr16:70719877-70720331	K562	blood:	n/a	chr16:70719998-70720008 chr16:70720037-70720047 chr16:70720076-70720085
45	EGR1	chr16:70719895-70720381	K562	blood:	n/a	chr16:70719998-70720008 chr16:70720037-70720047 chr16:70720076-70720085
46	EGR1	chr16:70719919-70720468	ECC-1	luminal epithelium:	n/a	chr16:70719998-70720008 chr16:70720037-70720047 chr16:70720076-70720085
47	EGR1	chr16:70719839-70720442	ECC-1	luminal epithelium:	n/a	chr16:70719998-70720008 chr16:70720037-70720047 chr16:70720076-70720085
48	ELF1	chr16:70719908-70720293	K562	blood:	n/a	n/a
49	ELK1	chr16:70719272-70719372	Hela-S3	cervix:	n/a	n/a
50	EP300	chr16:70719797-70720665	HepG2	liver:	n/a	n/a

(count:612 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:70720440-70720490	HCT-116	colon:	n/a
2	chr16:70720079-70720129	HIPEpiC	eye:	n/a
3	chr16:70720440-70720490	HCT-116	colon:	n/a
4	chr16:70720079-70720129	HIPEpiC	eye:	n/a
5	chr16:70720133-70720183	MCF10A-Er-Src	breast:	n/a
6	chr16:70720083-70720133	GM06990	blood:	n/a
7	chr16:70719115-70719165	SK-N-SH	brain:	n/a
8	chr16:70719277-70719327	IMR90	lung:	fetal
9	chr16:70720149-70720199	PrEC	prostate:	n/a
10	chr16:70720440-70720490	HPAEpiC	pulmonary alveolar:	n/a
11	chr16:70720149-70720199	PANC-1	pancreas:	n/a
12	chr16:70720083-70720133	HNPCEpiC	eye:	n/a
13	chr16:70719115-70719165	AG04449	skin:	fetal
14	chr16:70720817-70720867	Caco-2	colon:	n/a
15	chr16:70720083-70720133	BJ	skin:	n/a
16	chr16:70720440-70720490	SK-N-SH_RA	brain:	n/a
17	chr16:70719667-70719717	Jurkat	blood:	n/a
18	chr16:70720133-70720183	AG09319	gingival:	n/a
19	chr16:70719667-70719717	HepG2	liver:	n/a
20	chr16:70720440-70720490	ECC-1	luminal epithelium:	n/a
21	chr16:70720149-70720199	AG04449	skin:	fetal
22	chr16:70720079-70720129	HEK293	kidney:	embryo
23	chr16:70719115-70719165	Caco-2	colon:	n/a
24	chr16:70719277-70719327	GM12891	blood:	n/a
25	chr16:70720149-70720199	HAEpiC	amniotic membrane:	n/a
26	chr16:70720440-70720490	NHDF-neo	bronchial:	n/a
27	chr16:70720083-70720133	LNCaP	prostate:	n/a
28	chr16:70720079-70720129	AoSMC	blood vessel:	n/a
29	chr16:70719277-70719327	GM12892	blood:	n/a
30	chr16:70719667-70719717	HCPEpiC	choroid plexus:	n/a
31	chr16:70720314-70720364	HPAEpiC	pulmonary alveolar:	n/a
32	chr16:70720817-70720867	SK-N-SH	brain:	n/a
33	chr16:70720817-70720867	AG09309	skin:	n/a
34	chr16:70719115-70719165	PANC-1	pancreas:	n/a
35	chr16:70720133-70720183	MCF-7	breast:	n/a
36	chr16:70720817-70720867	AG10803	skin:	n/a
37	chr16:70720149-70720199	BE2_C	brain:	n/a
38	chr16:70720079-70720129	HepG2	liver:	n/a
39	chr16:70720817-70720867	MCF-7	breast:	n/a
40	chr16:70719115-70719165	BJ	skin:	n/a
41	chr16:70720314-70720364	SK-N-SH_RA	brain:	n/a
42	chr16:70720133-70720183	BJ	skin:	n/a
43	chr16:70720440-70720490	A549	lung:	n/a
44	chr16:70720083-70720133	HMEC	breast:	n/a
45	chr16:70719667-70719717	HCF	heart:	n/a
46	chr16:70720314-70720364	SKMC	muscle:	n/a
47	chr16:70719115-70719165	MCF-7	breast:	n/a
48	chr16:70719115-70719165	AG10803	skin:	n/a
49	chr16:70720083-70720133	NB4	blood:	n/a
50	chr16:70719667-70719717	HAEpiC	amniotic membrane:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70716977..70720923-chr16:70779925..70783515,4	K562	blood:
2	chr16:70709373..70712593-chr16:70717107..70721470,4	MCF-7	breast:
3	chr16:70718434..70719938-chr16:70760026..70761921,2	K562	blood:
4	chr16:70720725..70722557-chr16:70763820..70766425,2	MCF-7	breast:
5	chr16:70716977..70719990-chr16:70779925..70783515,4	K562	blood:
6	chr16:70716857..70722605-chr16:70776377..70783146,15	MCF-7	breast:
7	chr16:70414936..70416804-chr16:70716789..70719608,2	MCF-7	breast:
8	chr16:70717368..70719959-chr16:70834400..70837024,2	MCF-7	breast:
9	chr16:70715424..70721545-chr16:70778213..70783786,16	MCF-7	breast:
10	chr1:28974074..28976735-chr16:70718527..70720954,2	K562	blood:
11	chr16:70704267..70706050-chr16:70717985..70719949,2	MCF-7	breast:
12	chr16:70699407..70701314-chr16:70720329..70722044,2	MCF-7	breast:
13	chr16:70717596..70719954-chr16:70769240..70771432,3	K562	blood:
14	chr16:70555634..70562342-chr16:70718026..70723686,6	MCF-7	breast:

No data

Variant related genes	Relation type
MTSS1L	TF binding region
MTSS1L	CpG island
ENSG00000132613	chromatin interactions
ENSG00000103051	chromatin interactions
ENSG00000189091	chromatin interactions
ENSG00000103043	chromatin interactions
ENSG00000262890	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000260156	chromatin interactions

Extended variants
information (count: 77 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182369265	chr16:70718509-70718510	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs75188491	chr16:70718519-70718520	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs7195695	chr16:70718533-70718534	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs552416262	chr16:70718536-70718537	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs187169726	chr16:70718559-70718560	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs141561579	chr16:70718614-70718615	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs189708470	chr16:70718647-70718648	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs150899443	chr16:70718673-70718674	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs536164663	chr16:70718744-70718745	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs548047924	chr16:70718759-70718760	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs566363986	chr16:70718795-70718796	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs533967909	chr16:70718819-70718820	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs77322829	chr16:70718843-70718844	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs576866070	chr16:70718844-70718845	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs182692843	chr16:70718873-70718874	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs575409159	chr16:70718937-70718938	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs11646834	chr16:70718976-70718977	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs546133513	chr16:70719066-70719067	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs369260027	chr16:70719096-70719097	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs554481488	chr16:70719120-70719121	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs189003370	chr16:70719139-70719140	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs546369246	chr16:70719142-70719143	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs564482087	chr16:70719177-70719178	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs111391049	chr16:70719231-70719232	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs543525176	chr16:70719239-70719240	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs561763611	chr16:70719242-70719243	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs77946308	chr16:70719334-70719335	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs12925440	chr16:70719360-70719361	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs114698946	chr16:70719368-70719369	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs76697004	chr16:70719381-70719382	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs12925457	chr16:70719390-70719391	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs531376808	chr16:70719397-70719398	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs547626644	chr16:70719399-70719400	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs527536386	chr16:70719528-70719529	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs552360768	chr16:70719588-70719589	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs367917448	chr16:70719601-70719602	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs200631200	chr16:70719619-70719620	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs537960209	chr16:70719695-70719696	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs556275712	chr16:70719775-70719776	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs568088761	chr16:70719876-70719877	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs193033517	chr16:70719968-70719969	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs185776641	chr16:70719981-70719982	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs554546629	chr16:70719989-70719990	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs572706980	chr16:70719990-70719991	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs546132342	chr16:70720012-70720013	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs558350465	chr16:70720058-70720059	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs576527655	chr16:70720071-70720072	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs561689524	chr16:70720241-70720242	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs116922791	chr16:70720275-70720276	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs36170432	chr16:70720319-70720320	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	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 myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	21909424	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:515 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70694600-70720200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:70700400-70718800	Weak transcription	Small Intestine	intestine
3	chr16:70708000-70718600	Weak transcription	Fetal Kidney	kidney
4	chr16:70710000-70718600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr16:70711000-70718800	Weak transcription	Primary T cells from cord blood	blood
6	chr16:70711800-70719000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr16:70712200-70718600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr16:70712400-70718600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr16:70713200-70718600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr16:70713800-70718600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr16:70714200-70718800	Enhancers	Fetal Brain Male	brain
12	chr16:70714200-70719200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr16:70714800-70718800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:70714800-70719000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr16:70716000-70718600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr16:70716000-70718800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr16:70716000-70718800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:70716600-70718800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
19	chr16:70717000-70720400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr16:70717200-70718600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr16:70717200-70718800	Enhancers	Placenta Amnion	Placenta Amnion
22	chr16:70717200-70720400	Active TSS	HSMMtube	muscle
23	chr16:70717400-70718600	Weak transcription	Stomach Mucosa	stomach
24	chr16:70717600-70718600	Enhancers	Spleen	Spleen
25	chr16:70717600-70718800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr16:70717600-70718800	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
27	chr16:70717600-70719000	Flanking Active TSS	HMEC	breast
28	chr16:70717600-70719000	Flanking Active TSS	Osteobl	bone
29	chr16:70717600-70720200	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr16:70717800-70718600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr16:70717800-70718600	Active TSS	Duodenum Mucosa	Duodenum
32	chr16:70717800-70719000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr16:70717800-70719000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr16:70717800-70719000	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
35	chr16:70717800-70719000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr16:70717800-70720600	Active TSS	Aorta	Aorta
37	chr16:70718000-70718600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr16:70718000-70718600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr16:70718000-70718800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr16:70718000-70719000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr16:70718000-70719000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr16:70718000-70719000	Flanking Active TSS	Ovary	ovary
43	chr16:70718000-70719000	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr16:70718000-70719200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
45	chr16:70718000-70720200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr16:70718000-70720200	Active TSS	NHLF	lung
47	chr16:70718000-70720400	Active TSS	Brain Anterior Caudate	brain
48	chr16:70718200-70718600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr16:70718200-70718600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr16:70718200-70718600	Active TSS	Brain Angular Gyrus	brain

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