Variant report

Variant	rs1866416
Chromosome Location	chr12:30918286-30918287
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30908038..30909570-chr12:30918182..30920609,2	K562	blood:
2	chr12:30917713..30919276-chr12:30930708..30932985,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10743733	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10743734	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10771764	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10771765	0.82[ASN][1000 genomes]
rs10771766	0.82[ASN][1000 genomes]
rs10771767	0.82[ASN][1000 genomes]
rs10771768	0.82[ASN][1000 genomes]
rs10771769	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10843833	0.82[ASN][1000 genomes]
rs10843835	0.82[ASN][1000 genomes]
rs11051052	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs11051053	0.82[ASN][1000 genomes]
rs12303852	0.82[ASN][1000 genomes]
rs12305697	0.82[ASN][1000 genomes]
rs12370429	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13656	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1371049	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1371053	0.80[EUR][1000 genomes]
rs2289301	0.80[AMR][1000 genomes]
rs2304630	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2352217	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35925509	0.81[ASN][1000 genomes]
rs4930935	0.80[AMR][1000 genomes]
rs4930936	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6487932	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6487933	0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6487938	0.81[ASN][1000 genomes]
rs6487939	0.82[ASN][1000 genomes]
rs7136079	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs718368	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7298007	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7298180	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7304221	0.82[ASN][1000 genomes]
rs7304879	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7304976	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7311651	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7952744	0.82[ASN][1000 genomes]
rs7957141	0.82[ASN][1000 genomes]
rs7957226	0.82[ASN][1000 genomes]
rs7963494	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7968587	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7971762	0.82[ASN][1000 genomes]
rs7971870	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv3371244	chr12:30916285-30920583	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv8803	chr12:30918071-30919002	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv820923	chr12:30918135-30918781	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3485351	chr12:30918153-30918899	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3485373	chr12:30918210-30918865	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3485362	chr12:30918218-30918860	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3485340	chr12:30918226-30918818	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3140	chr12:30918239-30918844	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3485384	chr12:30918286-30918793	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1866416	IPO8	cis	Artery Tibial	GTEx
rs1866416	IPO8	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30918200-30924200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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