Variant report

Variant	rs3006419
Chromosome Location	chr1:153398286-153398287
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:153394465..153398536-chr1:153398736..153402872,4	K562	blood:
2	chr1:153334049..153336628-chr1:153397287..153398980,2	MCF-7	breast:
3	chr1:153395396..153398513-chr1:153399478..153403187,3	MCF-7	breast:
4	chr1:153389829..153392557-chr1:153397127..153398676,2	K562	blood:
5	chr1:153395818..153398608-chr1:153432369..153434096,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184330	Chromatin interaction
ENSG00000143556	Chromatin interaction
ENSG00000203781	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11205244	1.00[EUR][1000 genomes]
rs11205245	1.00[EUR][1000 genomes]
rs11488667	1.00[TSI][hapmap]
rs16835107	1.00[EUR][1000 genomes]
rs16835357	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs16835362	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs16835373	1.00[TSI][hapmap]
rs16835413	1.00[TSI][hapmap]
rs2233863	1.00[TSI][hapmap]
rs3006417	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3006418	1.00[EUR][1000 genomes]
rs3006474	1.00[EUR][1000 genomes]
rs3014820	0.91[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3014821	1.00[EUR][1000 genomes]
rs3014873	1.00[MEX][hapmap]
rs3014877	1.00[EUR][1000 genomes]
rs3014882	1.00[EUR][1000 genomes]
rs3014883	1.00[MEX][hapmap]
rs55900893	1.00[EUR][1000 genomes]
rs61555689	1.00[EUR][1000 genomes]
rs73018429	1.00[EUR][1000 genomes]
rs730347	1.00[TSI][hapmap]
rs74133619	1.00[EUR][1000 genomes]
rs74133622	1.00[EUR][1000 genomes]
rs74133623	1.00[EUR][1000 genomes]
rs74136421	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv533877	chr1:152923645-153468131	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1002705	chr1:153307852-153525589	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153398200-153399400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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