Variant report

Variant	esv1848372
Chromosome Location	chr8:122653247-122716049
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:952)
CpG islands
(count:614)
Chromatin interactive
region (count:11)
LncRNA
region (count:28)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:952 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr8:122654411-122654789	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF3	chr8:122654033-122654904	A549	lung:	n/a	chr8:122654286-122654293 chr8:122654283-122654293 chr8:122654282-122654295
3	ATF3	chr8:122709365-122710392	A549	lung:	n/a	n/a
4	ATF3	chr8:122709418-122710175	A549	lung:	n/a	n/a
5	ATF3	chr8:122654365-122654954	A549	lung:	n/a	n/a
6	BACH1	chr8:122654007-122654307	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr8:122662002-122662221	GM12878	blood:	n/a	n/a
8	BATF	chr8:122661995-122662214	GM12878	blood:	n/a	n/a
9	BCL3	chr8:122708880-122710503	A549	lung:	n/a	n/a
10	BCL3	chr8:122664123-122664350	GM12878	blood:	n/a	n/a
11	BCL3	chr8:122709393-122710140	A549	lung:	n/a	n/a
12	BCL3	chr8:122653973-122654925	A549	lung:	n/a	chr8:122653978-122653987
13	BHLHE40	chr8:122654504-122654843	GM12878	blood:	n/a	n/a
14	BRCA1	chr8:122709502-122710380	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr8:122654457-122654919	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr8:122655272-122655398	H1-hESC	embryonic stem cell:	n/a	n/a
17	CBX3	chr8:122654544-122654782	K562	blood:	n/a	n/a
18	CEBPB	chr8:122709583-122710014	IMR90	lung:	n/a	chr8:122709700-122709708 chr8:122709810-122709819 chr8:122709809-122709820
19	CEBPB	chr8:122706684-122707084	Hela-S3	cervix:	n/a	chr8:122706855-122706866
20	CEBPB	chr8:122706721-122706949	ECC-1	luminal epithelium:	n/a	chr8:122706855-122706866
21	CEBPB	chr8:122706708-122707037	A549	lung:	n/a	chr8:122706855-122706866
22	CEBPB	chr8:122709744-122709791	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr8:122681525-122682254	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr8:122654015-122654208	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr8:122709680-122709965	HepG2	liver:	n/a	chr8:122709700-122709708 chr8:122709810-122709819 chr8:122709809-122709820
26	CEBPB	chr8:122709541-122710149	A549	lung:	n/a	chr8:122709700-122709708 chr8:122709810-122709819 chr8:122709809-122709820
27	CEBPB	chr8:122706706-122707038	HepG2	liver:	n/a	chr8:122706855-122706866
28	CEBPB	chr8:122706688-122707043	IMR90	lung:	n/a	chr8:122706855-122706866
29	CEBPB	chr8:122691743-122692085	IMR90	lung:	n/a	n/a
30	CEBPB	chr8:122709150-122710121	ECC-1	luminal epithelium:	n/a	chr8:122709700-122709708 chr8:122709810-122709819 chr8:122709809-122709820
31	CEBPB	chr8:122709571-122709996	MCF-7	breast:	n/a	chr8:122709700-122709708 chr8:122709810-122709819 chr8:122709809-122709820
32	CEBPB	chr8:122706757-122706942	H1-hESC	embryonic stem cell:	n/a	chr8:122706855-122706866
33	CEBPB	chr8:122709614-122709978	MCF-7	breast:	n/a	chr8:122709700-122709708 chr8:122709810-122709819 chr8:122709809-122709820
34	CEBPB	chr8:122709134-122710430	Hela-S3	cervix:	n/a	chr8:122709700-122709708 chr8:122709810-122709819 chr8:122709809-122709820
35	CEBPB	chr8:122709246-122710068	ECC-1	luminal epithelium:	n/a	chr8:122709700-122709708 chr8:122709810-122709819 chr8:122709809-122709820
36	CEBPB	chr8:122654422-122654834	A549	lung:	n/a	n/a
37	CEBPB	chr8:122654366-122654971	IMR90	lung:	n/a	n/a
38	CEBPB	chr8:122654446-122654881	A549	lung:	n/a	n/a
39	CEBPB	chr8:122653997-122655039	A549	lung:	n/a	n/a
40	CEBPB	chr8:122654443-122654880	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr8:122709099-122710494	A549	lung:	n/a	chr8:122709700-122709708 chr8:122709810-122709819 chr8:122709809-122709820
42	CEBPB	chr8:122709116-122710070	A549	lung:	n/a	chr8:122709700-122709708 chr8:122709810-122709819 chr8:122709809-122709820
43	CEBPB	chr8:122706698-122706968	MCF-7	breast:	n/a	chr8:122706855-122706866
44	CEBPB	chr8:122654459-122654939	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD1	chr8:122652898-122653560	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD1	chr8:122654075-122654969	H1-hESC	embryonic stem cell:	n/a	chr8:122654612-122654622
47	CHD1	chr8:122649945-122655092	IMR90	lung:	n/a	chr8:122654612-122654622 chr8:122651511-122651521
48	CHD1	chr8:122654742-122654814	GM12878	blood:	n/a	n/a
49	CHD2	chr8:122709410-122710253	Hela-S3	cervix:	n/a	n/a
50	CHD2	chr8:122653889-122655025	H1-hESC	embryonic stem cell:	n/a	chr8:122654612-122654622

(count:614 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:122685859-122685909	HEEpiC	esophagus:	n/a
2	chr8:122654045-122654095	MCF-7	breast:	n/a
3	chr8:122679949-122679999	Hepatocyte	liver:	n/a
4	chr8:122654328-122654378	GM19239	blood:	n/a
5	chr8:122685859-122685909	HEEpiC	esophagus:	n/a
6	chr8:122654045-122654095	MCF-7	breast:	n/a
7	chr8:122679949-122679999	Hepatocyte	liver:	n/a
8	chr8:122654328-122654378	GM19239	blood:	n/a
9	chr8:122685859-122685909	PFSK-1	brain:	n/a
10	chr8:122685859-122685909	U87	brain:	n/a
11	chr8:122653639-122653689	HAEpiC	amniotic membrane:	n/a
12	chr8:122654328-122654378	ECC-1	luminal epithelium:	n/a
13	chr8:122654045-122654095	GM19239	blood:	n/a
14	chr8:122680033-122680083	HRE	kidney:	n/a
15	chr8:122654328-122654378	HNPCEpiC	eye:	n/a
16	chr8:122654231-122654281	NHBE	bronchial:	n/a
17	chr8:122653639-122653689	HEEpiC	esophagus:	n/a
18	chr8:122680033-122680083	SK-N-MC	brain:	n/a
19	chr8:122653639-122653689	HCT-116	colon:	n/a
20	chr8:122679949-122679999	HIPEpiC	eye:	n/a
21	chr8:122654328-122654378	HCPEpiC	choroid plexus:	n/a
22	chr8:122654566-122654616	HIPEpiC	eye:	n/a
23	chr8:122654023-122654073	GM12878	blood:	n/a
24	chr8:122654045-122654095	RPTEC	kidney:	n/a
25	chr8:122654231-122654281	SK-N-SH_RA	brain:	n/a
26	chr8:122685859-122685909	AG10803	skin:	n/a
27	chr8:122654328-122654378	HIPEpiC	eye:	n/a
28	chr8:122654045-122654095	T-47D	breast:	n/a
29	chr8:122654231-122654281	AG09309	skin:	n/a
30	chr8:122654328-122654378	HRCEpiC	kidney:	n/a
31	chr8:122680033-122680083	AG04449	skin:	fetal
32	chr8:122685859-122685909	HAEpiC	amniotic membrane:	n/a
33	chr8:122654566-122654616	SKMC	muscle:	n/a
34	chr8:122654045-122654095	HMEC	breast:	n/a
35	chr8:122680033-122680083	K562	blood:	n/a
36	chr8:122654045-122654095	AoSMC	blood vessel:	n/a
37	chr8:122654023-122654073	HCT-116	colon:	n/a
38	chr8:122654566-122654616	U87	brain:	n/a
39	chr8:122654023-122654073	HIPEpiC	eye:	n/a
40	chr8:122680033-122680083	GM19239	blood:	n/a
41	chr8:122653619-122653669	PFSK-1	brain:	n/a
42	chr8:122653639-122653689	Hepatocyte	liver:	n/a
43	chr8:122654231-122654281	BE2_C	brain:	n/a
44	chr8:122679949-122679999	MCF-7	breast:	n/a
45	chr8:122653639-122653689	ProgFib	skin:	n/a
46	chr8:122654328-122654378	NH-A	brain:	n/a
47	chr8:122654328-122654378	K562	blood:	n/a
48	chr8:122654328-122654378	SK-N-MC	brain:	n/a
49	chr8:122654328-122654378	GM12892	blood:	n/a
50	chr8:122680033-122680083	AG10803	skin:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:122676083..122677758-chr8:122678496..122682230,3	MCF-7	breast:
2	chr8:122676083..122677758-chr8:122678496..122682230,3	MCF-7	breast:
3	chr1:208718139..208720823-chr8:122687907..122690871,2	K562	blood:
4	chr8:122659004..122661963-chr8:122736236..122737876,2	MCF-7	breast:
5	chr8:122654549..122655220-chr8:123248193..123249114,4	MCF-7	breast:
6	chr8:122654279..122655172-chr8:122722565..122723772,6	MCF-7	breast:
7	chr8:122654203..122655215-chr8:122842205..122843217,4	MCF-7	breast:
8	chr8:122653019..122656017-chr8:122657604..122659924,2	MCF-7	breast:
9	chr8:122649542..122651983-chr8:122652240..122655106,2	MCF-7	breast:
10	chr8:122651970..122654146-chr8:122655158..122657244,2	MCF-7	breast:
11	chr8:122653903..122655313-chr8:122841957..122843772,13	MCF-7	breast:

(count:28 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-785H20.1.1-2	chr8:122653430-122653686	NONHSAT128466
2	lnc-RP11-785H20.1.1-2	chr8:122656506-122656608	NONHSAT128468
3	lnc-RP11-785H20.1.1-2	chr8:122654824-122654971	NONHSAT128468
4	lnc-RP11-785H20.1.1-2	chr8:122654824-122654971	ENSG00000248690
5	lnc-RP11-785H20.1.1-1	chr8:122692139-122692257	ENSG00000248478
6	lnc-RP11-785H20.1.1-2	chr8:122654824-122654971	ENSG00000248690
7	lnc-RP11-785H20.1.1-1	chr8:122709844-122710002	XLOC_006911
8	lnc-RP11-785H20.1.1-1	chr8:122691366-122691497	ENSG00000248478
9	lnc-RP11-785H20.1.1-2	chr8:122653486-122653686	NONHSAT128468
10	lnc-RP11-785H20.1.1-2	chr8:122653430-122653686	ENSG00000248690
11	lnc-RP11-785H20.1.1-1	chr8:122709877-122710002	XLOC_006911
12	lnc-RP11-785H20.1.1-1	chr8:122709877-122710002	XLOC_006911
13	lnc-RP11-785H20.1.1-2	chr8:122656506-122656933	ENSG00000248690
14	lnc-RP11-785H20.1.1-2	chr8:122653676-122653694	ENSG00000248690
15	lnc-RP11-785H20.1.1-2	chr8:122654824-122654971	ENSG00000248690
16	lnc-RP11-785H20.1.1-2	chr8:122656503-122657660	NONHSAT128471
17	lnc-RP11-785H20.1.1-2	chr8:122656506-122656933	ENSG00000248690
18	lnc-RP11-785H20.1.1-1	chr8:122709877-122710002	XLOC_006911
19	lnc-RP11-785H20.1.1-2	chr8:122654824-122654971	NONHSAT128466
20	lnc-HAS2-2	chr8:122692517-122692681	ENSG00000254209
21	lnc-RP11-785H20.1.1-2	chr8:122656506-122657564	NONHSAT128466
22	lnc-RP11-785H20.1.1-1	chr8:122709844-122710002	XLOC_006911
23	lnc-HAS2-2	chr8:122684013-122684183	ENSG00000254209
24	lnc-RP11-785H20.1.1-2	chr8:122653430-122653686	ENSG00000248690
25	lnc-RP11-785H20.1.1-2	chr8:122655559-122656143	NONHSAT128471
26	lnc-HAS2-2	chr8:122696725-122696802	ENSG00000254209
27	lnc-RP11-785H20.1.1-2	chr8:122655613-122655691	ENSG00000248690
28	lnc-RP11-785H20.1.1-2	chr8:122655613-122655757	NONHSAT128468

No data

Variant related genes	Relation type
HAS2	TF binding region
ENSG00000248478	TF binding region
HAS2-AS1	TF binding region
ENSG00000254209	TF binding region
HAS2	CpG island
ENSG00000248478	CpG island
HAS2-AS1	CpG island
ENSG00000254209	CpG island
ENSG00000248690	chromatin interactions
ENSG00000170961	chromatin interactions
FAM122B	miRNA target sites

Extended variants
information (count: 2050 )
Associated
traits (count: 143 )

Variant overlapped rSNPs/rCNVs (count:2050 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386729381	chr8:122653247-122653248	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs376143376	chr8:122653250-122653251	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs35371408	chr8:122653307-122653308	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs561061364	chr8:122653314-122653315	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs140715204	chr8:122653315-122653316	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs35912091	chr8:122653344-122653345	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs532612850	chr8:122653354-122653355	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs574808898	chr8:122653355-122653356	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs7837322	chr8:122653356-122653357	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs377510165	chr8:122653381-122653382	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs370350615	chr8:122653388-122653389	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs200143324	chr8:122653393-122653394	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs557302901	chr8:122653394-122653395	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs368596658	chr8:122653398-122653399	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs386413850	chr8:122653399-122653400	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs3866465	chr8:122653402-122653403	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs13260158	chr8:122653409-122653410	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs372340986	chr8:122653421-122653422	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs34828025	chr8:122653422-122653423	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs148083805	chr8:122653470-122653471	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs4004232	chr8:122653494-122653495	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs546570423	chr8:122653526-122653527	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs143764074	chr8:122653672-122653673	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs527295522	chr8:122653678-122653679	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs374836892	chr8:122653763-122653764	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs374028233	chr8:122653832-122653833	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs540624740	chr8:122653908-122653909	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs561061608	chr8:122653915-122653916	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs3910552	chr8:122653918-122653919	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs549832478	chr8:122653920-122653921	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs112843376	chr8:122653998-122653999	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs569543142	chr8:122654028-122654029	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs532166419	chr8:122654029-122654030	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs148128936	chr8:122654031-122654032	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs554315156	chr8:122654082-122654083	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs369770177	chr8:122654121-122654122	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs113207666	chr8:122654130-122654131	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs149791430	chr8:122654148-122654149	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs375155709	chr8:122654149-122654150	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs3217497	chr8:122654165-122654166	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs141939417	chr8:122654180-122654181	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs566460101	chr8:122654184-122654185	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs537174341	chr8:122654317-122654318	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs202179821	chr8:122654339-122654340	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs199995005	chr8:122654341-122654342	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs398086963	chr8:122654343-122654344	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs557427842	chr8:122654355-122654356	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs73320654	chr8:122654439-122654440	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs530126317	chr8:122654440-122654441	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs372329435	chr8:122654452-122654453	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:143)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16461302	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	22341455	CNVD
Cancer	20164919	CNVD
Fever	22138850	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:623 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122648800-122655000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:122649200-122654800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:122649800-122654000	Active TSS	NH-A	brain
4	chr8:122649800-122655200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr8:122650000-122655200	Active TSS	Fetal Kidney	kidney
6	chr8:122650000-122655200	Active TSS	Right Atrium	heart
7	chr8:122650400-122655000	Active TSS	NHLF	lung
8	chr8:122650800-122654400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:122650800-122654800	Active TSS	NHDF-Ad	bronchial
10	chr8:122650800-122655000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:122651000-122654200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr8:122651000-122654800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:122651000-122654800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:122651000-122654800	Active TSS	Muscle Satellite Cultured Cells	--
15	chr8:122651200-122654200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr8:122651200-122654400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:122651200-122654800	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr8:122651200-122654800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:122651200-122654800	Active TSS	A549	lung
20	chr8:122651200-122655400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:122651400-122653600	Active TSS	Brain Angular Gyrus	brain
22	chr8:122651400-122654000	Active TSS	Brain Substantia Nigra	brain
23	chr8:122651400-122654000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
24	chr8:122651400-122654400	Bivalent Enhancer	Fetal Heart	heart
25	chr8:122651400-122654800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:122651400-122655000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:122651400-122655000	Active TSS	HSMM	muscle
28	chr8:122651400-122655200	Active TSS	H9 Cell Line	embryonic stem cell
29	chr8:122651600-122654200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:122651600-122655000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr8:122651800-122653600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
32	chr8:122651800-122654000	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr8:122651800-122654200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:122652000-122654000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
35	chr8:122652000-122654000	Bivalent/Poised TSS	Left Ventricle	heart
36	chr8:122652000-122654000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
37	chr8:122652000-122654400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
38	chr8:122652000-122655000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:122652000-122655000	Active TSS	Aorta	Aorta
40	chr8:122652000-122655000	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr8:122652200-122653600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
42	chr8:122652200-122654000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
43	chr8:122652200-122654000	Bivalent/Poised TSS	Fetal Lung	lung
44	chr8:122652200-122654000	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr8:122652200-122654800	Active TSS	Brain Anterior Caudate	brain
46	chr8:122652200-122655200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr8:122652200-122655400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:122652400-122654400	Active TSS	Hela-S3	cervix
49	chr8:122652400-122654600	Active TSS	Colonic Mucosa	Colon
50	chr8:122652400-122654800	Active TSS	ES-I3 Cell Line	embryonic stem cell

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