Variant report

Variant	rs72736949
Chromosome Location	chr15:54269243-54269244
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:105)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:105 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:54269120-54269327	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr15:54269117-54269300	HepG2	liver:	n/a	n/a
3	CTCF	chr15:54269120-54269270	GM12875	blood:	n/a	n/a
4	CTCF	chr15:54269140-54269290	HRE	kidney:	n/a	n/a
5	CTCF	chr15:54269120-54269270	HEK293	kidney:	n/a	n/a
6	RAD21	chr15:54269107-54269359	SK-N-SH_RA	brain:	n/a	chr15:54269204-54269217
7	CTCF	chr15:54268911-54269511	MCF-7	breast:	n/a	n/a
8	RAD21	chr15:54269090-54269381	HepG2	liver:	n/a	chr15:54269204-54269217
9	CTCF	chr15:54268886-54269343	A549	lung:	n/a	n/a
10	RAD21	chr15:54269129-54269342	GM12878	blood:	n/a	chr15:54269204-54269217
11	CTCF	chr15:54269160-54269310	BE2_C	brain:	n/a	n/a
12	CTCF	chr15:54269152-54269277	Lung_OC	lung:	n/a	n/a
13	BHLHE40	chr15:54269065-54269371	GM12878	blood:	n/a	n/a
14	CTCF	chr15:54269140-54269290	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr15:54269180-54269330	RPTEC	kidney:	n/a	n/a
16	CTCF	chr15:54269160-54269310	GM12878	blood:	n/a	n/a
17	CTCF	chr15:54269140-54269290	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr15:54269100-54269250	RPTEC	kidney:	n/a	n/a
19	CTCF	chr15:54269140-54269290	SAEC	small airway:	n/a	n/a
20	CTCF	chr15:54269140-54269290	Caco-2	colon:	n/a	n/a
21	CTCF	chr15:54269146-54269262	SK-N-SH_RA	brain:	n/a	n/a
22	EBF1	chr15:54269203-54269415	GM12878	blood:	n/a	n/a
23	CTCF	chr15:54268992-54269422	GM12878	blood:	n/a	n/a
24	CTCF	chr15:54269202-54269247	Gliobla	brain:	n/a	n/a
25	CTCF	chr15:54269140-54269290	GM12869	blood:	n/a	n/a
26	NANOG	chr15:54269215-54269399	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr15:54269140-54269290	MCF-7	breast:	n/a	n/a
28	PBX3	chr15:54269177-54269306	GM12878	blood:	n/a	n/a
29	WRNIP1	chr15:54269188-54269427	GM12878	blood:	n/a	n/a
30	CTCF	chr15:54269200-54269350	A549	lung:	n/a	n/a
31	CTCF	chr15:54269160-54269310	SAEC	small airway:	n/a	n/a
32	CTCF	chr15:54269140-54269290	AoAF	blood vessel:	n/a	n/a
33	CTCF	chr15:54269115-54269312	A549	lung:	n/a	n/a
34	CTCF	chr15:54269109-54269337	MCF-7	breast:	n/a	n/a
35	BATF	chr15:54269100-54269383	GM12878	blood:	n/a	chr15:54269243-54269254
36	CTCF	chr15:54269140-54269290	GM12878	blood:	n/a	n/a
37	CTCF	chr15:54269140-54269290	HEK293	kidney:	n/a	n/a
38	CTCF	chr15:54269220-54269370	HA-sp	spinal cord:	n/a	n/a
39	CTCF	chr15:54269220-54269370	GM12865	blood:	n/a	n/a
40	CTCF	chr15:54269108-54269344	MCF-7	breast:	n/a	n/a
41	CTCF	chr15:54269104-54269292	Medullo	brain:	n/a	n/a
42	RAD21	chr15:54269173-54269356	IMR90	lung:	n/a	chr15:54269204-54269217
43	TBP	chr15:54269166-54269691	GM12878	blood:	n/a	n/a
44	CTCF	chr15:54269140-54269290	HPF	lung:	n/a	n/a
45	CTCF	chr15:54269072-54269438	MCF-7	breast:	n/a	n/a
46	CTCF	chr15:54269200-54269350	GM06990	blood:	n/a	n/a
47	CTCF	chr15:54269120-54269270	Caco-2	colon:	n/a	n/a
48	CTCF	chr15:54269088-54269322	HepG2	liver:	n/a	n/a
49	RAD21	chr15:54269005-54269448	A549	lung:	n/a	chr15:54269204-54269217
50	CTCF	chr15:54269187-54269265	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:54266407..54270072-chr15:55486535..55491034,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259669	TF binding region
ENSG00000137876	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16973930	0.80[EUR][1000 genomes]
rs56974799	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72736951	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72736952	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904223	chr15:53665247-54340070	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1052235	chr15:53677524-54618723	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv542388	chr15:53677524-54618723	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv904226	chr15:53883244-54458310	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv457144	chr15:53890362-54455757	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv569440	chr15:53890362-54455757	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv569441	chr15:53890362-54456754	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv457145	chr15:53890393-54456754	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv569442	chr15:53890393-54456754	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv949528	chr15:54041154-54281981	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv817539	chr15:54132584-55095235	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv833011	chr15:54226235-54421567	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv569491	chr15:54260920-54397493	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv904229	chr15:54267610-54340070	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54267400-54269600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:54269200-54269400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
3	chr15:54269200-54269400	Enhancers	Esophagus	oesophagus
4	chr15:54269200-54269400	Enhancers	Fetal Intestine Small	intestine
5	chr15:54269200-54270000	Enhancers	Fetal Brain Female	brain
6	chr15:54269200-54270000	Enhancers	Fetal Lung	lung
7	chr15:54269200-54277200	Active TSS	Aorta	Aorta

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