Variant report

Variant	rs171013
Chromosome Location	chr16:71249020-71249021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71248535..71249599-chr16:71391840..71392875,3	MCF-7	breast:
2	chr16:71248706..71249592-chr16:71391812..71393053,5	MCF-7	breast:
3	chr16:71248492..71249558-chr16:71344873..71345896,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172137	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10775325	0.81[EUR][1000 genomes]
rs109556	0.93[EUR][1000 genomes]
rs11865544	0.91[EUR][1000 genomes]
rs121308	0.82[EUR][1000 genomes]
rs171012	1.00[ASN][1000 genomes]
rs182910	0.92[EUR][1000 genomes]
rs2059274	0.83[EUR][1000 genomes]
rs235985	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs235987	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs235996	0.93[EUR][1000 genomes]
rs235997	0.82[EUR][1000 genomes]
rs235999	0.94[EUR][1000 genomes]
rs236006	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3094452	0.82[EUR][1000 genomes]
rs3094456	1.00[ASN][1000 genomes]
rs3096371	0.82[EUR][1000 genomes]
rs3096379	0.86[EUR][1000 genomes]
rs3096381	0.91[EUR][1000 genomes]
rs4570853	0.91[EUR][1000 genomes]
rs4788771	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62055863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73579054	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9938525	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758429	chr16:70807122-71316983	Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	esv2758653	chr16:70807122-71316983	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv1060754	chr16:71008303-71276778	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	nsv482374	chr16:71228600-71401617	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71248400-71249200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr16:71248400-71249200	Enhancers	Dnd41	blood
3	chr16:71248400-71252400	Enhancers	Brain Germinal Matrix	brain
4	chr16:71249000-71252000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr16:71249000-71252000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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