Variant report

Variant	esv3372973
Chromosome Location	chr16:70718876-70721424
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:377)
CpG islands
(count:611)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:377 , 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	chr16:70719875-70720111	HepG2	liver:	n/a	chr16:70720000-70720009 chr16:70719988-70720008
2	ATF3	chr16:70719798-70720136	K562	blood:	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	chr16:70719828-70721453	HepG2	liver:	n/a	n/a
9	BHLHE40	chr16:70720928-70721497	K562	blood:	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	chr16:70718755-70718995	HepG2	liver:	n/a	n/a
15	CEBPB	chr16:70718852-70719059	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr16:70718756-70719015	IMR90	lung:	n/a	n/a
17	CEBPD	chr16:70719875-70720201	HepG2	liver:	n/a	n/a
18	CEBPD	chr16:70719875-70720211	K562	blood:	n/a	n/a
19	CEBPD	chr16:70720473-70720743	HepG2	liver:	n/a	n/a
20	CEBPD	chr16:70719740-70720319	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	chr16:70718977-70718985	HepG2	liver:	n/a	n/a
24	CHD2	chr16:70719982-70720133	HepG2	liver:	n/a	n/a
25	CHD2	chr16:70719196-70719272	K562	blood:	n/a	n/a
26	CHD2	chr16:70719989-70720189	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	chr16:70719413-70720217	A549	lung:	n/a	n/a
30	CREB1	chr16:70719291-70720187	K562	blood:	n/a	n/a
31	CREB1	chr16:70719733-70720239	H1-hESC	embryonic stem cell:	n/a	n/a
32	CREB1	chr16:70718817-70720776	HepG2	liver:	n/a	n/a
33	CTCF	chr16:70719500-70719650	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr16:70720380-70720530	Caco-2	colon:	n/a	n/a
35	CTCF	chr16:70721127-70721136	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr16:70720120-70720270	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr16:70720360-70720510	HBMEC	blood vessel:	n/a	n/a
38	E2F1	chr16:70719289-70720349	Hela-S3	cervix:	n/a	chr16:70719341-70719348
39	E2F4	chr16:70719910-70720212	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F6	chr16:70719347-70720236	K562	blood:	n/a	chr16:70720027-70720038
41	E2F6	chr16:70719622-70719826	K562	blood:	n/a	n/a
42	E2F6	chr16:70719828-70720098	K562	blood:	n/a	chr16:70720027-70720038
43	E2F6	chr16:70719887-70720216	A549	lung:	n/a	chr16:70720027-70720038
44	E2F6	chr16:70719423-70720182	K562	blood:	n/a	chr16:70720027-70720038
45	E2F6	chr16:70721212-70721388	K562	blood:	n/a	n/a
46	EGR1	chr16:70719895-70720381	K562	blood:	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	EGR1	chr16:70719877-70720331	K562	blood:	n/a	chr16:70719998-70720008 chr16:70720037-70720047 chr16:70720076-70720085
49	EGR1	chr16:70719919-70720468	ECC-1	luminal epithelium:	n/a	chr16:70719998-70720008 chr16:70720037-70720047 chr16:70720076-70720085
50	ELF1	chr16:70719908-70720293	K562	blood:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:70720817-70720867	HepG2	liver:	n/a
2	chr16:70720817-70720867	HepG2	liver:	n/a
3	chr16:70719667-70719717	Jurkat	blood:	n/a
4	chr16:70720079-70720129	Caco-2	colon:	n/a
5	chr16:70720440-70720490	K562	blood:	n/a
6	chr16:70720133-70720183	AoSMC	blood vessel:	n/a
7	chr16:70720133-70720183	A549	lung:	n/a
8	chr16:70720083-70720133	ProgFib	skin:	n/a
9	chr16:70720083-70720133	BE2_C	brain:	n/a
10	chr16:70719277-70719327	BJ	skin:	n/a
11	chr16:70719277-70719327	HRE	kidney:	n/a
12	chr16:70720149-70720199	HIPEpiC	eye:	n/a
13	chr16:70720079-70720129	LNCaP	prostate:	n/a
14	chr16:70720083-70720133	U87	brain:	n/a
15	chr16:70719277-70719327	A549	lung:	n/a
16	chr16:70720817-70720867	NHBE	bronchial:	n/a
17	chr16:70720149-70720199	PrEC	prostate:	n/a
18	chr16:70719277-70719327	SKMC	muscle:	n/a
19	chr16:70719667-70719717	HCPEpiC	choroid plexus:	n/a
20	chr16:70720314-70720364	PANC-1	pancreas:	n/a
21	chr16:70719115-70719165	SAEC	small airway:	n/a
22	chr16:70720314-70720364	T-47D	breast:	n/a
23	chr16:70719115-70719165	PANC-1	pancreas:	n/a
24	chr16:70720314-70720364	AG04449	skin:	fetal
25	chr16:70720079-70720129	H1-hESC	embryonic stem cell:	embryo
26	chr16:70720314-70720364	NH-A	brain:	n/a
27	chr16:70720149-70720199	NHDF-neo	bronchial:	n/a
28	chr16:70720817-70720867	AG04449	skin:	fetal
29	chr16:70719277-70719327	RPTEC	kidney:	n/a
30	chr16:70720133-70720183	PFSK-1	brain:	n/a
31	chr16:70720149-70720199	MCF10A-Er-Src	breast:	n/a
32	chr16:70720440-70720490	U87	brain:	n/a
33	chr16:70720314-70720364	HepG2	liver:	n/a
34	chr16:70719115-70719165	ECC-1	luminal epithelium:	n/a
35	chr16:70720149-70720199	HepG2	liver:	n/a
36	chr16:70720440-70720490	PFSK-1	brain:	n/a
37	chr16:70720817-70720867	H1-hESC	embryonic stem cell:	embryo
38	chr16:70720440-70720490	MCF10A-Er-Src	breast:	n/a
39	chr16:70720440-70720490	GM12891	blood:	n/a
40	chr16:70720133-70720183	Hela-S3	cervix:	n/a
41	chr16:70720083-70720133	BJ	skin:	n/a
42	chr16:70719667-70719717	HCT-116	colon:	n/a
43	chr16:70720083-70720133	PANC-1	pancreas:	n/a
44	chr16:70720133-70720183	HCM	heart:	n/a
45	chr16:70719115-70719165	GM12878	blood:	n/a
46	chr16:70720149-70720199	AG04449	skin:	fetal
47	chr16:70720817-70720867	PrEC	prostate:	n/a
48	chr16:70720083-70720133	GM06990	blood:	n/a
49	chr16:70719667-70719717	NB4	blood:	n/a
50	chr16:70719667-70719717	AG04449	skin:	fetal

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70715424..70721545-chr16:70778213..70783786,16	MCF-7	breast:
2	chr16:70721359..70722001-chr16:70804625..70805130,2	NB4	blood:
3	chr16:70555634..70562342-chr16:70718026..70723686,6	MCF-7	breast:
4	chr16:70716977..70720923-chr16:70779925..70783515,4	K562	blood:
5	chr16:70717596..70719954-chr16:70769240..70771432,3	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	chr16:70716977..70719990-chr16:70779925..70783515,4	K562	blood:
9	chr16:70709373..70712593-chr16:70717107..70721470,4	MCF-7	breast:
10	chr16:70718434..70719938-chr16:70760026..70761921,2	K562	blood:
11	chr16:70717368..70719959-chr16:70834400..70837024,2	MCF-7	breast:
12	chr16:70720725..70722557-chr16:70763820..70766425,2	MCF-7	breast:
13	chr16:70699407..70701314-chr16:70720329..70722044,2	MCF-7	breast:
14	chr1:28974074..28976735-chr16:70718527..70720954,2	K562	blood:
15	chr16:70704267..70706050-chr16:70717985..70719949,2	MCF-7	breast:

No data

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

Extended variants
information (count: 75 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	rs568088761	chr16:70719876-70719877	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs193033517	chr16:70719968-70719969	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	rs200374306	chr16:70720349-70720350	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
37	rs544271863	chr16:70720350-70720351	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
38	rs529295326	chr16:70720374-70720375	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
39	rs541020297	chr16:70720384-70720385	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
40	rs564569314	chr16:70720414-70720415	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs187368619	chr16:70720445-70720446	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs527588934	chr16:70720450-70720451	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs371785288	chr16:70720465-70720466	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs139430295	chr16:70720466-70720467	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs570657377	chr16:70720483-70720484	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs374904600	chr16:70720503-70720504	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs531381265	chr16:70720524-70720525	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs192198509	chr16:70720622-70720623	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs35874206	chr16:70720630-70720631	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs560435230	chr16:70720634-70720635	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers	TF binding region 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:496 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70694600-70720200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:70711800-70719000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr16:70714200-70719200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr16:70714800-70719000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr16:70717000-70720400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr16:70717200-70720400	Active TSS	HSMMtube	muscle
7	chr16:70717600-70719000	Flanking Active TSS	HMEC	breast
8	chr16:70717600-70719000	Flanking Active TSS	Osteobl	bone
9	chr16:70717600-70720200	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr16:70717800-70719000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr16:70717800-70719000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr16:70717800-70719000	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
13	chr16:70717800-70719000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr16:70717800-70720600	Active TSS	Aorta	Aorta
15	chr16:70718000-70719000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr16:70718000-70719000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr16:70718000-70719000	Flanking Active TSS	Ovary	ovary
18	chr16:70718000-70719000	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr16:70718000-70719200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
20	chr16:70718000-70720200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr16:70718000-70720200	Active TSS	NHLF	lung
22	chr16:70718000-70720400	Active TSS	Brain Anterior Caudate	brain
23	chr16:70718200-70719000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr16:70718200-70719000	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr16:70718200-70719000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr16:70718200-70719000	Flanking Active TSS	Fetal Brain Female	brain
27	chr16:70718200-70719000	Flanking Active TSS	Fetal Muscle Trunk	muscle
28	chr16:70718200-70719000	Flanking Active TSS	Lung	lung
29	chr16:70718200-70719000	Flanking Active TSS	A549	lung
30	chr16:70718200-70719400	Flanking Active TSS	Fetal Thymus	thymus
31	chr16:70718200-70720200	Active TSS	Brain Substantia Nigra	brain
32	chr16:70718200-70720400	Active TSS	Rectal Smooth Muscle	rectum
33	chr16:70718200-70720400	Active TSS	HSMM	muscle
34	chr16:70718200-70720400	Active TSS	NHDF-Ad	bronchial
35	chr16:70718400-70719000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr16:70718400-70719000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr16:70718400-70719000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr16:70718400-70719000	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr16:70718400-70719000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr16:70718400-70719000	Flanking Active TSS	Colonic Mucosa	Colon
41	chr16:70718400-70719000	Flanking Active TSS	Fetal Heart	heart
42	chr16:70718400-70719000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
43	chr16:70718400-70719000	Flanking Active TSS	Left Ventricle	heart
44	chr16:70718400-70719000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr16:70718400-70719000	Flanking Active TSS	Hela-S3	cervix
46	chr16:70718400-70719000	Flanking Active TSS	NH-A	brain
47	chr16:70718400-70719000	Flanking Active TSS	NHEK	skin
48	chr16:70718400-70719200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr16:70718400-70719200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
50	chr16:70718400-70719400	Flanking Active TSS	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links