Variant report

Variant	esv3324235
Chromosome Location	chr1:85665789-85668337
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:598)
CpG islands
(count:794)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:598 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:85666651-85666847	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:85668228-85668248	HepG2	liver:	n/a	n/a
3	ATF2	chr1:85666959-85667677	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr1:85667272-85667840	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr1:85666008-85666112	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCLAF1	chr1:85666301-85666915	GM12878	blood:	n/a	chr1:85666767-85666780 chr1:85666802-85666811 chr1:85666748-85666757
7	BHLHE40	chr1:85666096-85667957	K562	blood:	n/a	chr1:85667358-85667374 chr1:85667142-85667158 chr1:85667177-85667193 chr1:85667163-85667179 chr1:85667107-85667120 chr1:85667171-85667187 chr1:85666769-85666785
8	BHLHE40	chr1:85666683-85667794	HepG2	liver:	n/a	chr1:85667358-85667374 chr1:85667142-85667158 chr1:85667177-85667193 chr1:85667163-85667179 chr1:85667107-85667120 chr1:85667171-85667187 chr1:85666769-85666785
9	BHLHE40	chr1:85667537-85667910	GM12878	blood:	n/a	n/a
10	BHLHE40	chr1:85666906-85667278	GM12878	blood:	n/a	chr1:85667142-85667158 chr1:85667177-85667193 chr1:85667163-85667179 chr1:85667107-85667120 chr1:85667171-85667187
11	BRCA1	chr1:85666679-85667166	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr1:85665981-85666181	GM12878	blood:	n/a	n/a
13	CBX3	chr1:85665803-85666281	K562	blood:	n/a	n/a
14	CBX3	chr1:85667497-85667984	K562	blood:	n/a	n/a
15	CBX3	chr1:85666284-85666990	K562	blood:	n/a	n/a
16	CCNT2	chr1:85665858-85667849	K562	blood:	n/a	n/a
17	CEBPB	chr1:85666599-85666869	K562	blood:	n/a	n/a
18	CEBPB	chr1:85666651-85666892	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr1:85667329-85667653	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr1:85667235-85668507	Hela-S3	cervix:	n/a	n/a
21	CEBPD	chr1:85666469-85667004	HepG2	liver:	n/a	n/a
22	CEBPD	chr1:85667275-85667610	HepG2	liver:	n/a	n/a
23	CEBPD	chr1:85666589-85667069	K562	blood:	n/a	n/a
24	CHD1	chr1:85666229-85666647	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD1	chr1:85666994-85668342	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr1:85666612-85666944	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chr1:85667275-85667528	HepG2	liver:	n/a	n/a
28	CHD2	chr1:85667229-85667929	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr1:85666028-85667837	K562	blood:	n/a	n/a
30	CHD2	chr1:85666107-85666147	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr1:85666705-85666857	HepG2	liver:	n/a	n/a
32	CHD2	chr1:85667220-85667403	GM12878	blood:	n/a	n/a
33	CHD2	chr1:85666228-85667831	Hela-S3	cervix:	n/a	n/a
34	CREB1	chr1:85666458-85667346	K562	blood:	n/a	n/a
35	CREB1	chr1:85665782-85666337	H1-hESC	embryonic stem cell:	n/a	n/a
36	CREB1	chr1:85666067-85667848	HepG2	liver:	n/a	n/a
37	CREB1	chr1:85666551-85667296	GM12878	blood:	n/a	n/a
38	CREB1	chr1:85666564-85667071	A549	lung:	n/a	n/a
39	CTBP2	chr1:85665918-85667824	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr1:85667160-85667310	AG09319	gingival:	n/a	chr1:85667300-85667309
41	CTCF	chr1:85666720-85666870	AG04449	skin:	n/a	chr1:85666765-85666778 chr1:85666755-85666768
42	CTCF	chr1:85667160-85667310	GM12865	blood:	n/a	chr1:85667300-85667309
43	CTCF	chr1:85667280-85667430	HFF	foreskin:	n/a	chr1:85667300-85667309
44	CTCF	chr1:85666820-85666970	GM12866	blood:	n/a	n/a
45	CTCF	chr1:85666400-85666401	Fibrobl	skin:	n/a	n/a
46	CTCF	chr1:85667100-85667250	HVMF	connective:	n/a	n/a
47	CTCF	chr1:85667188-85667381	IMR90	lung:	n/a	chr1:85667300-85667309
48	CTCF	chr1:85667160-85667310	SAEC	small airway:	n/a	chr1:85667300-85667309
49	CTCF	chr1:85667120-85667270	GM12871	blood:	n/a	n/a
50	CTCF	chr1:85667300-85667450	HFF-Myc	foreskin:	n/a	chr1:85667300-85667309

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:85666741-85666791	HRE	kidney:	n/a
2	chr1:85666741-85666791	HRE	kidney:	n/a
3	chr1:85666673-85666723	T-47D	breast:	n/a
4	chr1:85666720-85666770	HCPEpiC	choroid plexus:	n/a
5	chr1:85667791-85667841	PFSK-1	brain:	n/a
6	chr1:85666159-85666209	GM12892	blood:	n/a
7	chr1:85666159-85666209	U87	brain:	n/a
8	chr1:85666673-85666723	GM06990	blood:	n/a
9	chr1:85666970-85667020	Caco-2	colon:	n/a
10	chr1:85666874-85666924	GM12892	blood:	n/a
11	chr1:85666720-85666770	MCF10A-Er-Src	breast:	n/a
12	chr1:85666741-85666791	SK-N-SH_RA	brain:	n/a
13	chr1:85665902-85665952	SK-N-SH_RA	brain:	n/a
14	chr1:85666970-85667020	SAEC	small airway:	n/a
15	chr1:85666874-85666924	AG09309	skin:	n/a
16	chr1:85667951-85668001	NHDF-neo	bronchial:	n/a
17	chr1:85667951-85668001	HEK293	kidney:	embryo
18	chr1:85667233-85667283	HCT-116	colon:	n/a
19	chr1:85667454-85667504	NHDF-neo	bronchial:	n/a
20	chr1:85665883-85665933	SAEC	small airway:	n/a
21	chr1:85666741-85666791	HAEpiC	amniotic membrane:	n/a
22	chr1:85665902-85665952	NHBE	bronchial:	n/a
23	chr1:85665883-85665933	SK-N-MC	brain:	n/a
24	chr1:85667791-85667841	Hela-S3	cervix:	n/a
25	chr1:85666874-85666924	MCF-7	breast:	n/a
26	chr1:85665902-85665952	AG04450	lung:	fetal
27	chr1:85666159-85666209	HRCEpiC	kidney:	n/a
28	chr1:85667791-85667841	SK-N-SH_RA	brain:	n/a
29	chr1:85666720-85666770	HRE	kidney:	n/a
30	chr1:85667951-85668001	K562	blood:	n/a
31	chr1:85666673-85666723	PANC-1	pancreas:	n/a
32	chr1:85665902-85665952	SK-N-MC	brain:	n/a
33	chr1:85665902-85665952	HL-60	blood:	n/a
34	chr1:85667791-85667841	T-47D	breast:	n/a
35	chr1:85665883-85665933	RPTEC	kidney:	n/a
36	chr1:85667791-85667841	ProgFib	skin:	n/a
37	chr1:85666673-85666723	BJ	skin:	n/a
38	chr1:85666159-85666209	Caco-2	colon:	n/a
39	chr1:85667233-85667283	GM06990	blood:	n/a
40	chr1:85667791-85667841	NT2-D1	testis:	n/a
41	chr1:85666159-85666209	Hepatocyte	liver:	n/a
42	chr1:85666708-85666758	HEEpiC	esophagus:	n/a
43	chr1:85666159-85666209	IMR90	lung:	fetal
44	chr1:85667951-85668001	HCT-116	colon:	n/a
45	chr1:85666159-85666209	AG10803	skin:	n/a
46	chr1:85666970-85667020	RPTEC	kidney:	n/a
47	chr1:85666159-85666209	HNPCEpiC	eye:	n/a
48	chr1:85665883-85665933	HRCEpiC	kidney:	n/a
49	chr1:85666159-85666209	AG09319	gingival:	n/a
50	chr1:85666159-85666209	AG04450	lung:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr1:85663638..85666684-chr1:85666937..85669926,3	MCF-7	breast:
2	chr1:85665227..85667257-chr1:85740935..85743875,2	K562	blood:
3	chr1:85665913..85668656-chr1:85741362..85743092,3	MCF-7	breast:
4	chr1:85667789..85671155-chr1:85672864..85676253,5	K562	blood:
5	chr1:85666946..85668694-chr1:85686380..85689036,2	K562	blood:
6	chr1:85666758..85667459-chr11:107879642..107880312,2	NB4	blood:
7	chr1:85665831..85667640-chr1:86041122..86042846,2	MCF-7	breast:
8	chr1:85665631..85669772-chr1:85739485..85744059,5	K562	blood:
9	chr1:85597874..85599552-chr1:85665218..85666801,2	MCF-7	breast:
10	chr1:85667613..85669609-chr1:85711130..85713411,2	MCF-7	breast:
11	chr1:85666179..85667836-chr1:85723614..85725791,2	K562	blood:
12	chr1:85666785..85669663-chr1:85715100..85717431,2	K562	blood:
13	chr1:85667494..85671075-chr1:85689483..85691213,3	K562	blood:
14	chr1:85664620..85668785-chr1:85722586..85726821,6	MCF-7	breast:
15	chr1:85624154..85626625-chr1:85666842..85668443,2	MCF-7	breast:

No data

Variant related genes	Relation type
SYDE2	TF binding region
SYDE2	CpG island
ENSG00000223653	chromatin interactions
ENSG00000097096	chromatin interactions
ENSG00000166266	chromatin interactions
ENSG00000153904	chromatin interactions
ENSG00000162642	chromatin interactions
ENSG00000266110	chromatin interactions
ENSG00000142867	chromatin interactions

Extended variants
information (count: 108 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539501238	chr1:85665857-85665858	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs565559603	chr1:85665898-85665899	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs202136829	chr1:85665904-85665905	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs550966498	chr1:85665909-85665910	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs189791302	chr1:85665921-85665922	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs375831341	chr1:85665944-85665945	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs542409004	chr1:85665955-85665956	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs369971480	chr1:85665957-85665958	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs372543540	chr1:85665967-85665968	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs200817794	chr1:85665969-85665970	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs61753619	chr1:85665973-85665974	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs74371003	chr1:85665982-85665983	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs372797215	chr1:85665985-85665986	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs181221787	chr1:85666014-85666015	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs538810760	chr1:85666027-85666028	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs376318154	chr1:85666036-85666037	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs370764027	chr1:85666080-85666081	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs375021134	chr1:85666107-85666108	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs78000272	chr1:85666118-85666119	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs368656842	chr1:85666129-85666130	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs575165652	chr1:85666138-85666139	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs12121540	chr1:85666156-85666157	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	mRNA abundance
23	rs374908077	chr1:85666160-85666161	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs141587551	chr1:85666163-85666164	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs150748043	chr1:85666175-85666176	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs201281082	chr1:85666205-85666206	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs184497601	chr1:85666206-85666207	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs201203252	chr1:85666212-85666213	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs376834773	chr1:85666251-85666252	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs12729376	chr1:85666270-85666271	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs817456	chr1:85666327-85666328	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs61753572	chr1:85666340-85666341	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs61753571	chr1:85666344-85666345	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs531197600	chr1:85666368-85666369	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs544931524	chr1:85666426-85666427	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs566221949	chr1:85666427-85666428	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs561613843	chr1:85666448-85666449	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs530106392	chr1:85666471-85666472	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs200965031	chr1:85666474-85666475	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs546712035	chr1:85666540-85666541	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs566935081	chr1:85666551-85666552	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs189323989	chr1:85666625-85666626	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs532518453	chr1:85666633-85666634	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs552311883	chr1:85666647-85666648	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs568718901	chr1:85666680-85666681	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs369970188	chr1:85666710-85666711	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs551084537	chr1:85666744-85666745	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs554441754	chr1:85666745-85666746	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs568057044	chr1:85666792-85666793	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs533768730	chr1:85666809-85666810	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:398 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85615800-85665800	Weak transcription	Esophagus	oesophagus
2	chr1:85649200-85665800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:85654400-85665800	Weak transcription	Gastric	stomach
4	chr1:85654400-85665800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:85656200-85665800	Weak transcription	Lung	lung
6	chr1:85661000-85669000	Active TSS	Stomach Smooth Muscle	stomach
7	chr1:85661400-85668400	Active TSS	Colon Smooth Muscle	Colon
8	chr1:85661800-85665800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:85662200-85665800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:85663000-85665800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr1:85663000-85666200	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr1:85663200-85666200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:85663400-85666000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:85663600-85665800	Active TSS	Rectal Smooth Muscle	rectum
15	chr1:85663600-85666200	Active TSS	Right Ventricle	heart
16	chr1:85663600-85666400	Active TSS	Right Atrium	heart
17	chr1:85663600-85668600	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr1:85663800-85667600	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr1:85663800-85667800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:85663800-85667800	Active TSS	K562	blood
21	chr1:85663800-85668000	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr1:85663800-85668200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:85663800-85668200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:85663800-85668600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:85664000-85667800	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr1:85664000-85668200	Active TSS	Fetal Intestine Large	intestine
27	chr1:85664200-85666000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:85664200-85667600	Active TSS	HMEC	breast
29	chr1:85664400-85666000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:85664400-85666000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:85664400-85666000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:85664400-85666200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:85664400-85668200	Active TSS	Fetal Kidney	kidney
34	chr1:85664600-85665800	Active TSS	Duodenum Mucosa	Duodenum
35	chr1:85664600-85665800	Active TSS	Fetal Stomach	stomach
36	chr1:85664600-85666400	Active TSS	Fetal Heart	heart
37	chr1:85664600-85667200	Active TSS	Colonic Mucosa	Colon
38	chr1:85664600-85667800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:85664600-85667800	Active TSS	NHLF	lung
40	chr1:85664600-85668000	Active TSS	Fetal Intestine Small	intestine
41	chr1:85664600-85668400	Active TSS	H1 Cell Line	embryonic stem cell
42	chr1:85664600-85668400	Active TSS	Aorta	Aorta
43	chr1:85664800-85665800	Active TSS	Liver	Liver
44	chr1:85664800-85668200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:85664800-85668200	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr1:85664800-85668200	Active TSS	A549	lung
47	chr1:85665000-85665800	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr1:85665000-85668000	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr1:85665000-85668000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:85665200-85665800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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