Variant report

Variant	rs7295476
Chromosome Location	chr12:74680262-74680263
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:74679445-74680609	K562	blood:	n/a	n/a
2	CEBPB	chr12:74680258-74680372	K562	blood:	n/a	n/a
3	GATA3	chr12:74680205-74680320	SH-SY5Y	brain:	n/a	chr12:74680226-74680233 chr12:74680226-74680233 chr12:74680226-74680233 chr12:74680219-74680240

Variant related genes	Relation type
ENSG00000257183	TF binding region

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1019690	0.97[ASN][1000 genomes]
rs1019692	0.97[ASN][1000 genomes]
rs1019693	0.97[ASN][1000 genomes]
rs1019694	0.97[ASN][1000 genomes]
rs10879749	0.97[ASN][1000 genomes]
rs10879759	0.88[ASN][1000 genomes]
rs11180007	0.82[ASN][1000 genomes]
rs11180015	0.97[ASN][1000 genomes]
rs11180027	0.95[ASN][1000 genomes]
rs11180036	0.95[ASN][1000 genomes]
rs11180049	0.88[ASN][1000 genomes]
rs11180057	0.83[ASN][1000 genomes]
rs11180063	0.83[ASN][1000 genomes]
rs11829422	0.88[ASN][1000 genomes]
rs11833117	0.99[AFR][1000 genomes]
rs11836857	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12422910	0.95[ASN][1000 genomes]
rs1346248	0.97[ASN][1000 genomes]
rs1365533	0.97[ASN][1000 genomes]
rs1365534	0.97[ASN][1000 genomes]
rs1471296	0.83[ASN][1000 genomes]
rs17113224	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17113335	0.97[ASN][1000 genomes]
rs1820497	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1834669	1.00[ASN][1000 genomes]
rs2012003	0.97[ASN][1000 genomes]
rs2012005	0.97[ASN][1000 genomes]
rs2162395	0.97[ASN][1000 genomes]
rs2169290	0.83[ASN][1000 genomes]
rs2278189	1.00[ASN][1000 genomes]
rs4883488	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4883489	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66472931	0.97[ASN][1000 genomes]
rs66504708	0.98[ASN][1000 genomes]
rs66512760	0.97[ASN][1000 genomes]
rs66514235	1.00[ASN][1000 genomes]
rs66661116	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66756307	0.97[ASN][1000 genomes]
rs66955885	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67027369	0.97[ASN][1000 genomes]
rs67249120	0.97[ASN][1000 genomes]
rs67283194	0.94[ASN][1000 genomes]
rs67436776	0.83[ASN][1000 genomes]
rs67452475	0.88[ASN][1000 genomes]
rs67619450	0.97[ASN][1000 genomes]
rs67630387	0.89[ASN][1000 genomes]
rs67773463	0.97[ASN][1000 genomes]
rs68026423	0.97[ASN][1000 genomes]
rs68173977	0.97[ASN][1000 genomes]
rs72652864	0.97[ASN][1000 genomes]
rs72652865	0.97[ASN][1000 genomes]
rs7299438	0.88[ASN][1000 genomes]
rs7305709	0.95[ASN][1000 genomes]
rs7398187	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv520257	chr12:74590356-74680999	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1047574	chr12:74599663-74687663	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv469472	chr12:74651797-74690292	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv559411	chr12:74651797-74690292	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv899290	chr12:74666737-74729489	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv899291	chr12:74666737-74740958	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1051702	chr12:74674733-74732069	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv469473	chr12:74676381-74712896	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv559412	chr12:74676381-74712896	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv428595	chr12:74679884-74858160	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74679200-74681400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:74679400-74680400	Enhancers	K562	blood
3	chr12:74680000-74681000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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