Variant report

Variant	rs10495452
Chromosome Location	chr1:240190588-240190589
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:240190170..240190882-chr1:240312730..240313531,4	MCF-7	breast:
2	chr1:240189936..240190957-chr1:240312515..240313773,4	MCF-7	breast:
3	chr1:240190029..240190913-chr1:240351333..240351835,2	MCF-7	breast:
4	chr1:240190026..240191518-chr1:240352380..240353443,9	MCF-7	breast:
5	chr1:240189746..240190908-chr1:240332012..240333362,5	MCF-7	breast:
6	chr1:240190048..240190853-chr1:240352486..240353186,3	MCF-7	breast:
7	chr1:240190054..240190930-chr1:240352376..240353152,3	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10495455	0.97[ASN][1000 genomes]
rs10802834	0.97[ASN][1000 genomes]
rs10926077	0.97[ASN][1000 genomes]
rs10926078	0.97[ASN][1000 genomes]
rs10926079	0.97[ASN][1000 genomes]
rs10926080	0.97[ASN][1000 genomes]
rs10926081	0.97[ASN][1000 genomes]
rs10926082	0.97[ASN][1000 genomes]
rs10926083	0.97[ASN][1000 genomes]
rs10926085	0.97[ASN][1000 genomes]
rs10926086	0.97[ASN][1000 genomes]
rs10926088	0.97[ASN][1000 genomes]
rs12072127	0.97[ASN][1000 genomes]
rs12073451	0.97[ASN][1000 genomes]
rs12075485	0.97[ASN][1000 genomes]
rs12077059	0.97[ASN][1000 genomes]
rs12080343	0.97[ASN][1000 genomes]
rs12088486	0.97[ASN][1000 genomes]
rs12127985	0.97[ASN][1000 genomes]
rs12130047	0.97[ASN][1000 genomes]
rs12130237	1.00[ASW][hapmap]
rs12132607	0.97[ASN][1000 genomes]
rs12134671	1.00[ASW][hapmap];0.82[MKK][hapmap]
rs12134717	0.97[ASN][1000 genomes]
rs1539199	0.97[ASN][1000 genomes]
rs17609907	0.97[ASN][1000 genomes]
rs17610064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1891228	0.97[ASN][1000 genomes]
rs2126378	1.00[ASW][hapmap];0.82[MKK][hapmap]
rs35151598	0.97[ASN][1000 genomes]
rs35309998	0.97[ASN][1000 genomes]
rs35828768	0.97[ASN][1000 genomes]
rs58563048	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67353439	0.97[ASN][1000 genomes]
rs71646805	0.97[ASN][1000 genomes]
rs71646806	0.97[ASN][1000 genomes]
rs72762572	0.97[ASN][1000 genomes]
rs72762575	0.97[ASN][1000 genomes]
rs72762577	0.97[ASN][1000 genomes]
rs72762581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72762586	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73124800	0.97[ASN][1000 genomes]
rs752329	1.00[AFR][1000 genomes]
rs7535290	0.97[ASN][1000 genomes]
rs7538507	0.97[ASN][1000 genomes]
rs7555657	0.97[ASN][1000 genomes]
rs7555761	0.97[ASN][1000 genomes]
rs765909	1.00[AFR][1000 genomes]
rs9887780	0.97[ASN][1000 genomes]
rs9887796	0.97[ASN][1000 genomes]
rs9887964	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873351	chr1:239636613-240324200	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv2757778	chr1:239766094-240389504	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv2759009	chr1:239766094-240389504	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	esv35011	chr1:239907420-240298959	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	esv2756891	chr1:239907420-240308147	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv873353	chr1:239913038-240253320	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv873354	chr1:239913038-240303322	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv827531	chr1:239914745-240300206	Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv873355	chr1:239934541-240206985	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv534543	chr1:239940371-240191534	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
11	nsv519393	chr1:239962002-240190588	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv997935	chr1:240067402-240231654	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	esv3336326	chr1:240111594-240430845	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv1014002	chr1:240134783-240453624	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv535362	chr1:240134783-240453624	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv1012980	chr1:240178095-240221986	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv1007197	chr1:240181417-240209741	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv3389630	chr1:240188429-240192027	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:240189000-240190600	Weak transcription	NHDF-Ad	bronchial
2	chr1:240190200-240190800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:240190200-240191000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:240190400-240190800	Enhancers	HUVEC	blood vessel

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