Variant report

Variant	rs1479518
Chromosome Location	chr15:92821250-92821251
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:121)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:121 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:92821140-92821290	GM12870	blood:	n/a	n/a
2	CTCF	chr15:92821015-92821377	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr15:92821120-92821270	AG09319	gingival:	n/a	n/a
4	CTCF	chr15:92821100-92821250	HEK293	kidney:	n/a	n/a
5	RAD21	chr15:92820884-92821450	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr15:92821085-92821328	MCF-7	breast:	n/a	n/a
7	CTCF	chr15:92821089-92821293	Fibrobl	skin:	n/a	n/a
8	CTCF	chr15:92821057-92821325	A549	lung:	n/a	n/a
9	CTCF	chr15:92821068-92821296	GM12878	blood:	n/a	n/a
10	CTCF	chr15:92821120-92821270	AG04449	skin:	n/a	n/a
11	CTCF	chr15:92821088-92821276	GM13977	blood:	n/a	n/a
12	CTCF	chr15:92821095-92821290	GM19240	blood:	n/a	n/a
13	MAX	chr15:92821207-92821266	NB4	blood:	n/a	n/a
14	CTCF	chr15:92821034-92821321	Gliobla	brain:	n/a	n/a
15	CTCF	chr15:92821120-92821270	GM12873	blood:	n/a	n/a
16	SMC3	chr15:92820997-92821363	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr15:92821113-92821263	GM19239	blood:	n/a	n/a
18	RAD21	chr15:92820904-92821452	MCF-7	breast:	n/a	n/a
19	CTCF	chr15:92821140-92821390	HFF-Myc	foreskin:	n/a	n/a
20	RAD21	chr15:92821040-92821332	A549	lung:	n/a	n/a
21	CTCF	chr15:92821120-92821270	AG04450	lung:	n/a	n/a
22	CTCF	chr15:92821100-92821250	AG10803	skin:	n/a	n/a
23	FOS	chr15:92821152-92821352	MCF10A-Er-Src	breast:	n/a	n/a
24	CTCF	chr15:92821120-92821270	GM06990	blood:	n/a	n/a
25	CTCF	chr15:92821120-92821270	GM12869	blood:	n/a	n/a
26	CTCF	chr15:92820813-92821533	SK-N-SH	brain:	n/a	n/a
27	CTCF	chr15:92821100-92821250	HAc	cerebellar:	n/a	n/a
28	CTCF	chr15:92821030-92821322	MCF-7	breast:	n/a	n/a
29	SMC3	chr15:92821052-92821337	HepG2	liver:	n/a	n/a
30	CTCF	chr15:92821123-92821296	GM12891	blood:	n/a	n/a
31	CTCF	chr15:92821100-92821250	A549	lung:	n/a	n/a
32	CTCF	chr15:92821120-92821270	HRE	kidney:	n/a	n/a
33	FOS	chr15:92821164-92821306	MCF10A-Er-Src	breast:	n/a	n/a
34	CTCF	chr15:92821095-92821264	HepG2	liver:	n/a	n/a
35	CTCF	chr15:92821140-92821290	WERI-Rb-1	eye:	n/a	n/a
36	CTCF	chr15:92821100-92821250	HBMEC	blood vessel:	n/a	n/a
37	SMC3	chr15:92821027-92821351	GM12878	blood:	n/a	n/a
38	CTCF	chr15:92821064-92821279	LNCaP	prostate:	n/a	n/a
39	CTCF	chr15:92821100-92821250	GM12872	blood:	n/a	n/a
40	CTCF	chr15:92821100-92821250	HPAF	blood vessel:	n/a	n/a
41	RAD21	chr15:92820934-92821427	A549	lung:	n/a	n/a
42	CTCF	chr15:92820974-92821266	A549	lung:	n/a	n/a
43	CTCF	chr15:92821100-92821250	NHEK	skin:	n/a	n/a
44	CTCF	chr15:92821087-92821280	LNCaP	prostate:	n/a	n/a
45	CTCF	chr15:92821100-92821250	BJ	skin:	n/a	n/a
46	CTCF	chr15:92821100-92821250	GM12864	blood:	n/a	n/a
47	CTCF	chr15:92821200-92821350	HMF	breast:	n/a	n/a
48	CTCF	chr15:92821120-92821270	GM12865	blood:	n/a	n/a
49	RAD21	chr15:92820906-92821477	MCF-7	breast:	n/a	n/a
50	CTCF	chr15:92821140-92821290	GM12874	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:92820715..92821706-chr15:92923043..92923956,5	MCF-7	breast:
2	chr15:92820714..92821615-chr15:92926445..92927465,5	MCF-7	breast:
3	chr15:92821115..92821619-chr15:92926896..92927469,2	MCF-7	breast:
4	chr15:92640575..92641424-chr15:92820669..92821685,3	MCF-7	breast:

No data

Variant related genes	Relation type
DUXAP6	TF binding region
ENSG00000176463	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs73535750	1.00[AMR][1000 genomes]
rs73535769	1.00[AMR][1000 genomes]
rs73544531	1.00[AMR][1000 genomes]
rs73544536	1.00[AMR][1000 genomes]
rs73544546	1.00[AMR][1000 genomes]
rs73544550	1.00[AMR][1000 genomes]
rs73548238	1.00[AMR][1000 genomes]
rs73548239	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948621	chr15:92688981-93158095	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1049561	chr15:92758434-93097965	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1037972	chr15:92804908-93270761	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92813200-92822800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:92821200-92822600	Enhancers	Lung	lung

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