Variant report

Variant	nsv826750
Chromosome Location	chr13:95358502-95368070
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:324)
CpG islands
(count:2197)
Chromatin interactive
region (count:9)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr13:95364963-95365163	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr13:95365386-95365631	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr13:95358881-95359055	K562	blood:	n/a	n/a
4	BACH1	chr13:95363239-95363779	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr13:95359027-95360743	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr13:95363443-95364180	K562	blood:	n/a	n/a
7	BRCA1	chr13:95360542-95361015	H1-hESC	embryonic stem cell:	n/a	n/a
8	BRCA1	chr13:95363287-95363527	H1-hESC	embryonic stem cell:	n/a	n/a
9	CCNT2	chr13:95363432-95363803	K562	blood:	n/a	n/a
10	CEBPB	chr13:95359916-95360279	H1-hESC	embryonic stem cell:	n/a	chr13:95360112-95360123
11	CEBPB	chr13:95362265-95362572	IMR90	lung:	n/a	n/a
12	CEBPB	chr13:95362298-95362584	A549	lung:	n/a	n/a
13	CEBPB	chr13:95362284-95362574	HepG2	liver:	n/a	n/a
14	CEBPB	chr13:95359982-95360283	K562	blood:	n/a	chr13:95360112-95360123
15	CEBPB	chr13:95362281-95362539	K562	blood:	n/a	n/a
16	CEBPB	chr13:95359962-95360129	HepG2	liver:	n/a	chr13:95360112-95360123
17	CHD1	chr13:95360092-95360266	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD1	chr13:95364549-95365677	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD1	chr13:95363253-95363620	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD1	chr13:95360550-95360979	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD1	chr13:95364035-95364316	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD1	chr13:95362173-95363002	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD1	chr13:95361345-95361755	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD1	chr13:95359104-95359590	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr13:95365216-95365218	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr13:95363234-95363250	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chr13:95365854-95365946	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr13:95360056-95360058	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr13:95363413-95363668	A549	lung:	n/a	n/a
30	CTBP2	chr13:95363183-95366208	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTBP2	chr13:95359526-95360034	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTBP2	chr13:95360393-95360838	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr13:95363240-95363390	GM12867	blood:	n/a	n/a
34	CTCF	chr13:95363308-95363426	GM12892	blood:	n/a	n/a
35	CTCF	chr13:95363560-95363710	GM12869	blood:	n/a	n/a
36	CTCF	chr13:95363343-95363820	K562	blood:	n/a	n/a
37	CTCF	chr13:95363490-95363810	IMR90	lung:	n/a	n/a
38	CTCF	chr13:95363460-95363610	NHEK	skin:	n/a	n/a
39	CTCF	chr13:95365260-95365410	NHEK	skin:	n/a	n/a
40	CTCF	chr13:95363500-95363650	GM12873	blood:	n/a	n/a
41	CTCF	chr13:95363480-95363630	HUVEC	blood vessel:	n/a	n/a
42	CTCF	chr13:95363602-95363747	GM10248	blood:	n/a	n/a
43	CTCF	chr13:95363494-95363747	A549	lung:	n/a	n/a
44	CTCF	chr13:95363554-95363740	LNCaP	prostate:	n/a	n/a
45	CTCF	chr13:95363520-95363670	GM12871	blood:	n/a	n/a
46	CTCF	chr13:95363520-95363670	GM12865	blood:	n/a	n/a
47	CTCF	chr13:95363480-95363630	HEK293	kidney:	n/a	n/a
48	CTCF	chr13:95363599-95363741	GM12878	blood:	n/a	n/a
49	CTCF	chr13:95365260-95365410	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr13:95363599-95363730	LNCaP	prostate:	n/a	n/a

(count:2197 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:95364514-95364564	NH-A	brain:	n/a
2	chr13:95364514-95364564	NH-A	brain:	n/a
3	chr13:95358476-95358526	HNPCEpiC	eye:	n/a
4	chr13:95363811-95363861	SAEC	small airway:	n/a
5	chr13:95363371-95363421	H1-hESC	embryonic stem cell:	embryo
6	chr13:95358476-95358526	GM06990	blood:	n/a
7	chr13:95362829-95362879	HCM	heart:	n/a
8	chr13:95364921-95364971	HMEC	breast:	n/a
9	chr13:95364993-95365043	PANC-1	pancreas:	n/a
10	chr13:95359718-95359768	SK-N-SH_RA	brain:	n/a
11	chr13:95358498-95358548	NB4	blood:	n/a
12	chr13:95358476-95358526	SKMC	muscle:	n/a
13	chr13:95365673-95365723	SKMC	muscle:	n/a
14	chr13:95359203-95359253	AG04450	lung:	fetal
15	chr13:95359203-95359253	GM19239	blood:	n/a
16	chr13:95365509-95365559	HepG2	liver:	n/a
17	chr13:95363811-95363861	IMR90	lung:	fetal
18	chr13:95359666-95359716	HRPEpiC	eye:	n/a
19	chr13:95366044-95366094	Hepatocyte	liver:	n/a
20	chr13:95364062-95364112	CMK	blood:	n/a
21	chr13:95359974-95360024	BE2_C	brain:	n/a
22	chr13:95364333-95364383	Hela-S3	cervix:	n/a
23	chr13:95365673-95365723	HNPCEpiC	eye:	n/a
24	chr13:95363755-95363805	SK-N-SH	brain:	n/a
25	chr13:95364915-95364965	HCPEpiC	choroid plexus:	n/a
26	chr13:95364915-95364965	AG09319	gingival:	n/a
27	chr13:95364062-95364112	HRE	kidney:	n/a
28	chr13:95359162-95359212	PrEC	prostate:	n/a
29	chr13:95366044-95366094	AG04449	skin:	fetal
30	chr13:95366044-95366094	GM12891	blood:	n/a
31	chr13:95364633-95364683	PFSK-1	brain:	n/a
32	chr13:95363007-95363057	AG09319	gingival:	n/a
33	chr13:95359203-95359253	AG09319	gingival:	n/a
34	chr13:95364062-95364112	Hepatocyte	liver:	n/a
35	chr13:95364915-95364965	HCT-116	colon:	n/a
36	chr13:95364675-95364725	Hepatocyte	liver:	n/a
37	chr13:95363755-95363805	PrEC	prostate:	n/a
38	chr13:95362829-95362879	HUVEC	blood vessel:	n/a
39	chr13:95359974-95360024	AG10803	skin:	n/a
40	chr13:95359162-95359212	SKMC	muscle:	n/a
41	chr13:95359974-95360024	GM12892	blood:	n/a
42	chr13:95360542-95360592	HL-60	blood:	n/a
43	chr13:95364510-95364560	AG09309	skin:	n/a
44	chr13:95364569-95364619	HAEpiC	amniotic membrane:	n/a
45	chr13:95364062-95364112	A549	lung:	n/a
46	chr13:95364993-95365043	HRE	kidney:	n/a
47	chr13:95364915-95364965	NB4	blood:	n/a
48	chr13:95364921-95364971	HEK293	kidney:	embryo
49	chr13:95358476-95358526	ProgFib	skin:	n/a
50	chr13:95364514-95364564	HEK293	kidney:	embryo

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:95354749..95357417-chr13:95358781..95361227,3	MCF-7	breast:
2	chr13:95363939..95364459-chr9:139760451..139760979,2	MCF-7	breast:
3	chr13:95359884..95364398-chr13:95364758..95367708,4	MCF-7	breast:
4	chr13:95359884..95364398-chr13:95364758..95367708,4	MCF-7	breast:
5	chr13:95357906..95359959-chr13:95361552..95364059,2	MCF-7	breast:
6	chr13:95363109..95365528-chr13:95367530..95369797,2	K562	blood:
7	chr13:95357906..95359959-chr13:95361552..95364059,2	MCF-7	breast:
8	chr13:95325863..95327596-chr13:95357586..95359779,2	MCF-7	breast:
9	chr13:95355528..95357274-chr13:95361498..95363560,2	K562	blood:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SOX21-1	chr13:95359725-95360750	ENSG00000248922
2	lnc-SOX21-1	chr13:95359725-95360733	NONHSAT034735
3	lnc-SOX21-1	chr13:95358391-95358684	NONHSAT034737
4	lnc-SOX21-1	chr13:95358391-95358541	ENSG00000248922
5	lnc-GPR180-1	chr13:95364970-95365647	NR_046514
6	lnc-SOX21-1	chr13:95358391-95358541	NONHSAT034735
7	lnc-GPR180-1	chr13:95364970-95365647	ENSG00000227640.2
8	lnc-GPR180-1	chr13:95365892-95368199	NR_046514
9	lnc-GPR180-1	chr13:95365892-95368500	ENSG00000227640.2
10	lnc-GPR180-1	chr13:95365892-95368197	XLOC_010472
11	lnc-GPR180-1	chr13:95364970-95365647	XLOC_010472
12	lnc-SOX21-1	chr13:95358391-95359564	XLOC_010695

No data

Variant related genes	Relation type
LINC00391	TF binding region
SOX21-AS1	TF binding region
SOX21	TF binding region
LINC00391	CpG island
SOX21-AS1	CpG island
SOX21	CpG island
ENSG00000125285	chromatin interactions
ENSG00000238230	chromatin interactions
ENSG00000227640	chromatin interactions
ENSG00000107223	chromatin interactions
GPR137C	miRNA target sites

Extended variants
information (count: 285 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540460618	chr13:95358525-95358526	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs181146028	chr13:95358537-95358538	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs142711496	chr13:95358572-95358573	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs184439166	chr13:95358597-95358598	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs562298515	chr13:95358642-95358643	Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs113473738	chr13:95358758-95358759	Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs3831034	chr13:95358759-95358760	Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs556628907	chr13:95358760-95358761	Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs398037778	chr13:95358772-95358773	Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs397795056	chr13:95358773-95358774	Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs10692927	chr13:95358774-95358775	Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs531382882	chr13:95358939-95358940	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs548297631	chr13:95358952-95358953	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs529339979	chr13:95358962-95358963	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs568192702	chr13:95358990-95358991	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs533950881	chr13:95358998-95358999	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs117055410	chr13:95359027-95359028	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs188922263	chr13:95359040-95359041	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs539315905	chr13:95359067-95359068	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs556428145	chr13:95359174-95359175	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs575549402	chr13:95359217-95359218	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs150707223	chr13:95359247-95359248	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs554627776	chr13:95359305-95359306	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs574621417	chr13:95359323-95359324	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs544733132	chr13:95359333-95359334	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs558723689	chr13:95359350-95359351	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs560448260	chr13:95359354-95359355	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs543699424	chr13:95359446-95359447	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs5805874	chr13:95359447-95359448	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs75238043	chr13:95359448-95359449	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs398037779	chr13:95359460-95359461	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs139904263	chr13:95359464-95359465	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs555980553	chr13:95359531-95359532	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs577370673	chr13:95359535-95359536	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs139205563	chr13:95359555-95359556	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs563236342	chr13:95359637-95359638	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs531192533	chr13:95359649-95359650	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs74104356	chr13:95359673-95359674	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs375183505	chr13:95359676-95359677	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs527344799	chr13:95359698-95359699	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs547522196	chr13:95359725-95359726	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs570508428	chr13:95359727-95359728	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs539668617	chr13:95359761-95359762	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs549801021	chr13:95359795-95359796	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs569971272	chr13:95359814-95359815	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs537827793	chr13:95359885-95359886	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs554515306	chr13:95360021-95360022	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
48	rs182005691	chr13:95360028-95360029	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
49	rs7325012	chr13:95360051-95360052	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs113177055	chr13:95360098-95360099	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:687 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95354600-95358600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr13:95355800-95359600	Weak transcription	Pancreas	Pancrea
3	chr13:95356400-95358600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:95357200-95359600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
5	chr13:95357600-95360800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:95357800-95359600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
7	chr13:95358000-95358600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr13:95358000-95358600	Bivalent Enhancer	Brain Anterior Caudate	brain
9	chr13:95358200-95358600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr13:95358200-95358600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr13:95358400-95358600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
12	chr13:95358400-95358600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
13	chr13:95358400-95358600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
14	chr13:95358400-95358600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
15	chr13:95358400-95358600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr13:95358400-95358800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:95358400-95358800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr13:95358400-95358800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
19	chr13:95358400-95358800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
20	chr13:95358400-95358800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr13:95358400-95361600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
22	chr13:95358400-95361600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
23	chr13:95358600-95358800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr13:95358600-95358800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr13:95358600-95358800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr13:95358600-95358800	Bivalent Enhancer	Brain Germinal Matrix	brain
27	chr13:95358600-95358800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
28	chr13:95358600-95359000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
29	chr13:95358600-95359000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr13:95358600-95359000	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
31	chr13:95358600-95359600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:95358600-95359600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr13:95358600-95362400	Active TSS	H1 Cell Line	embryonic stem cell
34	chr13:95358800-95359000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:95358800-95359000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr13:95358800-95359000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
37	chr13:95358800-95359000	Flanking Active TSS	Brain Germinal Matrix	brain
38	chr13:95358800-95359000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
39	chr13:95358800-95359000	Bivalent Enhancer	Fetal Lung	lung
40	chr13:95358800-95359200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
41	chr13:95358800-95359400	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr13:95358800-95360800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
43	chr13:95358800-95361000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr13:95358800-95361000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
45	chr13:95358800-95361200	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr13:95358800-95361600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
47	chr13:95358800-95366200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr13:95359000-95359200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr13:95359000-95359200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
50	chr13:95359000-95359400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell

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