Variant report

Variant	rs873613
Chromosome Location	chr12:4232802-4232803
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10459129	0.91[ASN][1000 genomes]
rs10744631	0.91[ASN][1000 genomes]
rs10774193	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10774197	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10848979	0.82[EUR][1000 genomes]
rs10848981	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10848982	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10848983	0.88[CEU][hapmap];0.83[GIH][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs10848984	0.82[EUR][1000 genomes]
rs10848985	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063002	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063003	0.95[EUR][1000 genomes]
rs11063004	0.88[CEU][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs11063007	0.82[EUR][1000 genomes]
rs11063008	0.84[EUR][1000 genomes]
rs11063009	0.84[EUR][1000 genomes]
rs11063011	0.91[ASN][1000 genomes]
rs11063012	0.91[ASN][1000 genomes]
rs12229320	0.88[CEU][hapmap];0.83[GIH][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes]
rs12579541	0.84[EUR][1000 genomes]
rs12579556	0.84[EUR][1000 genomes]
rs12579813	0.84[EUR][1000 genomes]
rs2003578	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003579	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2110592	0.84[EUR][1000 genomes]
rs2160160	0.84[EUR][1000 genomes]
rs2160161	0.84[EUR][1000 genomes]
rs2358836	0.84[EUR][1000 genomes]
rs2358837	0.84[EUR][1000 genomes]
rs4766207	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs4766208	0.83[EUR][1000 genomes]
rs4766209	0.84[EUR][1000 genomes]
rs4766211	0.84[EUR][1000 genomes]
rs58334161	0.84[EUR][1000 genomes]
rs6489518	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6489519	0.93[ASN][1000 genomes]
rs7136346	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs741244	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs741245	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs759306	0.82[EUR][1000 genomes]
rs759312	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7967520	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9634153	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1050474	chr12:4226760-4389238	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs873613	MRPL51	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4227200-4252000	Weak transcription	Pancreas	Pancrea
2	chr12:4229200-4245000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:4232800-4233000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:4232800-4233000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr12:4232800-4233000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:4232800-4241800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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