Variant report

Variant	rs2608996
Chromosome Location	chr3:50834521-50834522
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1038415	0.91[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs107457	0.83[ASW][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes]
rs11130258	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11923336	1.00[AMR][1000 genomes]
rs13092850	1.00[AMR][1000 genomes]
rs13325937	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1552255	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1552256	0.83[AMR][1000 genomes]
rs1843073	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2129069	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2262848	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2355337	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2355701	0.91[ASW][hapmap];0.89[MKK][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs2459450	1.00[AMR][1000 genomes]
rs2608994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2609004	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2609014	1.00[AMR][1000 genomes]
rs2609015	1.00[AMR][1000 genomes]
rs2609027	1.00[AMR][1000 genomes]
rs2609030	1.00[AMR][1000 genomes]
rs2675775	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2675779	0.91[ASW][hapmap];0.89[MKK][hapmap];0.83[YRI][hapmap]
rs2675781	1.00[AMR][1000 genomes]
rs2675785	1.00[AMR][1000 genomes]
rs2675797	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2675798	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2675815	0.91[ASW][hapmap];0.89[MKK][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs2675823	1.00[AMR][1000 genomes]
rs2675824	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs2675826	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs2675833	1.00[ASW][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs407164	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs419160	1.00[CEU][hapmap]
rs421689	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4234694	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4234695	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4267639	0.82[ASW][hapmap];0.96[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs4340700	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4401355	1.00[AMR][1000 genomes]
rs4423762	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4440121	1.00[AMR][1000 genomes]
rs4688675	1.00[AMR][1000 genomes]
rs4688704	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4688717	0.83[AMR][1000 genomes]
rs55694933	1.00[EUR][1000 genomes]
rs55723661	1.00[EUR][1000 genomes]
rs56890263	1.00[EUR][1000 genomes]
rs56962519	1.00[EUR][1000 genomes]
rs57077411	1.00[EUR][1000 genomes]
rs57376071	1.00[EUR][1000 genomes]
rs57756789	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58225351	1.00[EUR][1000 genomes]
rs58231937	1.00[EUR][1000 genomes]
rs58293845	1.00[EUR][1000 genomes]
rs58803807	1.00[EUR][1000 genomes]
rs59486246	1.00[EUR][1000 genomes]
rs60132317	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60455882	1.00[AMR][1000 genomes]
rs61174735	1.00[EUR][1000 genomes]
rs621975	1.00[AMR][1000 genomes]
rs628865	1.00[ASW][hapmap];0.96[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6446223	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6446242	1.00[AMR][1000 genomes]
rs6446244	1.00[AMR][1000 genomes]
rs6446246	1.00[AMR][1000 genomes]
rs650473	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6781959	1.00[EUR][1000 genomes]
rs6799213	1.00[EUR][1000 genomes]
rs6805545	1.00[EUR][1000 genomes]
rs6807662	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7373700	0.91[ASW][hapmap];0.89[MKK][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs73833251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73833977	1.00[EUR][1000 genomes]
rs73833978	1.00[EUR][1000 genomes]
rs7433944	1.00[AMR][1000 genomes]
rs7611428	0.82[LWK][hapmap]
rs7650772	1.00[AMR][1000 genomes]
rs7652715	0.83[LWK][hapmap]
rs7653228	1.00[AMR][1000 genomes]
rs9311462	1.00[EUR][1000 genomes]
rs936714	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9818443	1.00[AMR][1000 genomes]
rs9821597	0.91[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9825283	0.91[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs9840476	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9851304	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9854588	1.00[AMR][1000 genomes]
rs9857033	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9868870	0.83[LWK][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2608996	PRPF6	trans	lymphoblastoid	seeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50826400-50841200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:50834000-50834600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr3:50834000-50834600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr3:50834200-50834600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr3:50834200-50834600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr3:50834200-50835000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:50834200-50835000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:50834200-50835000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:50834400-50834600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:50834400-50834800	Enhancers	Left Ventricle	heart
11	chr3:50834400-50834800	Enhancers	Right Ventricle	heart
12	chr3:50834400-50835000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr3:50834400-50835000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr3:50834400-50835000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr3:50834400-50835000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:50834400-50835000	Enhancers	Right Atrium	heart

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