Variant report

Variant	rs12034483
Chromosome Location	chr1:195714307-195714308
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10218789	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10754148	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10801446	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10801447	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10921893	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10921895	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10921896	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10921898	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10921899	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10921904	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10921905	0.82[ASN][1000 genomes]
rs10921908	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11807635	0.81[ASN][1000 genomes]
rs11810167	0.82[ASN][1000 genomes]
rs11811129	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12030394	0.82[ASN][1000 genomes]
rs12035852	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12038958	0.81[ASN][1000 genomes]
rs12042500	0.82[ASN][1000 genomes]
rs12042815	0.82[ASN][1000 genomes]
rs12045875	0.82[ASN][1000 genomes]
rs12048401	0.82[ASN][1000 genomes]
rs12085765	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1576765	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2895786	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60298660	0.83[ASN][1000 genomes]
rs6676223	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72734161	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72734167	0.82[ASN][1000 genomes]
rs72736123	0.83[ASN][1000 genomes]
rs876716	0.83[ASN][1000 genomes]
rs965614	0.89[EUR][1000 genomes]
rs9970789	0.81[AMR][1000 genomes];0.90[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	nsv872894	chr1:195053221-195745968	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1009307	chr1:195368381-195726703	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv872932	chr1:195447286-195736070	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv872937	chr1:195493538-195849028	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1007203	chr1:195672857-195902360	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	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	chr1:195711600-195714800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:195713600-195714400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:195713600-195714400	Weak transcription	A549	lung
4	chr1:195713800-195715800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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