Variant report

Variant	rs203948
Chromosome Location	chr8:50977383-50977384
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10088096	0.85[CEU][hapmap]
rs10095475	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs10107848	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs10112063	0.93[EUR][1000 genomes]
rs12546435	1.00[CEU][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes]
rs13259670	0.93[EUR][1000 genomes]
rs1386114	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1471770	0.92[EUR][1000 genomes]
rs1484808	1.00[CEU][hapmap]
rs149936	0.96[EUR][1000 genomes]
rs149991	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs149993	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs16914102	1.00[CHD][hapmap]
rs16914314	1.00[CHD][hapmap]
rs16914392	1.00[CHD][hapmap]
rs169435	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1905657	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs203611	0.97[EUR][1000 genomes]
rs203615	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs203622	0.86[CEU][hapmap];0.96[EUR][1000 genomes]
rs203623	0.86[CEU][hapmap]
rs203625	0.86[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs203631	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs203898	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs203926	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs203927	1.00[CEU][hapmap];0.82[GIH][hapmap];0.96[TSI][hapmap];0.97[EUR][1000 genomes]
rs203929	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs203931	1.00[CEU][hapmap];1.00[CHD][hapmap];0.96[TSI][hapmap];0.97[EUR][1000 genomes]
rs203934	0.97[EUR][1000 genomes]
rs203941	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs203943	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs203944	0.90[EUR][1000 genomes]
rs203946	1.00[CEU][hapmap];0.82[GIH][hapmap];0.96[TSI][hapmap];0.99[EUR][1000 genomes]
rs203950	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs203952	1.00[CEU][hapmap];0.82[GIH][hapmap];0.96[TSI][hapmap];0.99[EUR][1000 genomes]
rs203953	1.00[CEU][hapmap];0.96[TSI][hapmap]
rs203957	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs203958	1.00[CEU][hapmap];0.82[GIH][hapmap];0.96[TSI][hapmap];0.97[EUR][1000 genomes]
rs203959	1.00[CEU][hapmap];0.82[GIH][hapmap];0.96[TSI][hapmap];0.91[EUR][1000 genomes]
rs203961	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs203962	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs203963	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs203964	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2054742	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs318894	0.90[GIH][hapmap];0.89[TSI][hapmap]
rs318902	0.90[GIH][hapmap];0.89[TSI][hapmap]
rs318903	0.90[GIH][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes]
rs318906	0.80[AMR][1000 genomes]
rs318910	0.90[GIH][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes]
rs6999728	1.00[CEU][hapmap];0.82[GIH][hapmap];0.96[TSI][hapmap]
rs7817941	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7835615	0.93[EUR][1000 genomes]
rs923059	0.85[CEU][hapmap]
rs993552	0.95[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353749	chr8:50530807-51139242	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv916392	chr8:50827638-51395140	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1022115	chr8:50864995-50981944	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv611311	chr8:50865230-50980320	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2759613	chr8:50873293-51137995	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv2758621	chr8:50886593-51137995	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv611312	chr8:50930075-51011122	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv890871	chr8:50936174-51040022	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv890872	chr8:50946702-51032813	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50975800-50977600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr8:50976200-50979600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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