Variant report

Variant	rs12594072
Chromosome Location	chr15:54055374-54055375
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr15:54055357-54055461	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:54055336-54055386	IMR90	lung:	fetal
2	chr15:54055336-54055386	BE2_C	brain:	n/a
3	chr15:54055336-54055386	SK-N-SH_RA	brain:	n/a
4	chr15:54055336-54055386	NH-A	brain:	n/a
5	chr15:54055336-54055386	HAEpiC	amniotic membrane:	n/a
6	chr15:54055336-54055386	GM12892	blood:	n/a
7	chr15:54055336-54055386	Hepatocyte	liver:	n/a
8	chr15:54055336-54055386	AG09319	gingival:	n/a
9	chr15:54055336-54055386	HCPEpiC	choroid plexus:	n/a
10	chr15:54055336-54055386	RPTEC	kidney:	n/a
11	chr15:54055336-54055386	U87	brain:	n/a
12	chr15:54055336-54055386	NT2-D1	testis:	n/a
13	chr15:54055336-54055386	ECC-1	luminal epithelium:	n/a
14	chr15:54055336-54055386	HIPEpiC	eye:	n/a
15	chr15:54055336-54055386	SK-N-MC	brain:	n/a
16	chr15:54055336-54055386	GM12878	blood:	n/a
17	chr15:54055336-54055386	AG04450	lung:	fetal
18	chr15:54055336-54055386	AG04449	skin:	fetal
19	chr15:54055336-54055386	MCF10A-Er-Src	breast:	n/a
20	chr15:54055336-54055386	HRPEpiC	eye:	n/a
21	chr15:54055336-54055386	HCT-116	colon:	n/a
22	chr15:54055336-54055386	HCF	heart:	n/a
23	chr15:54055336-54055386	AoSMC	blood vessel:	n/a
24	chr15:54055336-54055386	PFSK-1	brain:	n/a
25	chr15:54055336-54055386	Hela-S3	cervix:	n/a
26	chr15:54055336-54055386	H1-hESC	embryonic stem cell:	embryo
27	chr15:54055336-54055386	Jurkat	blood:	n/a
28	chr15:54055336-54055386	PANC-1	pancreas:	n/a
29	chr15:54055336-54055386	GM12891	blood:	n/a
30	chr15:54055336-54055386	ovcar-3	ovarian:	n/a
31	chr15:54055336-54055386	PrEC	prostate:	n/a
32	chr15:54055336-54055386	K562	blood:	n/a
33	chr15:54055336-54055386	HCM	heart:	n/a
34	chr15:54055336-54055386	ProgFib	skin:	n/a
35	chr15:54055336-54055386	NHDF-neo	bronchial:	n/a
36	chr15:54055336-54055386	HMEC	breast:	n/a
37	chr15:54055336-54055386	GM06990	blood:	n/a
38	chr15:54055336-54055386	HepG2	liver:	n/a
39	chr15:54055336-54055386	SAEC	small airway:	n/a
40	chr15:54055336-54055386	AG10803	skin:	n/a
41	chr15:54055336-54055386	MCF-7	breast:	n/a
42	chr15:54055336-54055386	NHBE	bronchial:	n/a
43	chr15:54055336-54055386	GM19239	blood:	n/a
44	chr15:54055336-54055386	LNCaP	prostate:	n/a
45	chr15:54055336-54055386	HPAEpiC	pulmonary alveolar:	n/a
46	chr15:54055336-54055386	SKMC	muscle:	n/a
47	chr15:54055336-54055386	Caco-2	colon:	n/a
48	chr15:54055336-54055386	HNPCEpiC	eye:	n/a
49	chr15:54055336-54055386	BJ	skin:	n/a
50	chr15:54055336-54055386	T-47D	breast:	n/a

No data

Variant related genes	Relation type
RNU6-449P	TF binding region
WDR72	TF binding region
RNU6-449P	CpG island
WDR72	CpG island

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10467926	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11071001	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11633580	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635018	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635066	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12591101	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12915223	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1461423	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1841577	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1903461	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs527417	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7164670	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7167506	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8034536	0.81[EUR][1000 genomes]
rs898736	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv904224	chr15:53668018-54210677	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv9267	chr15:53821005-54132612	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv833010	chr15:53935652-54099849	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	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

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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