Variant report

Variant	rs1383307
Chromosome Location	chr2:185593612-185593613
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10165596	1.00[CHB][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10172363	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10172501	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10174301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10176668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs10180597	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10180958	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap]
rs10186035	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs10187190	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10194277	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10194285	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10197098	0.89[EUR][1000 genomes]
rs10199843	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10206254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10211213	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12104591	0.93[CEU][hapmap];1.00[CHB][hapmap]
rs12693387	0.93[CEU][hapmap];1.00[CHB][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12693389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs12693391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs12693395	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12693398	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12693401	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap]
rs13009002	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap]
rs13017390	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1317210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1320080	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs13383910	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs13384546	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13386789	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13389014	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap]
rs13396624	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13398732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13411652	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap]
rs13414832	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap]
rs13420355	0.82[YRI][hapmap]
rs13422256	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13428955	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs13429132	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap]
rs1480476	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap]
rs1480477	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap]
rs1600577	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17431132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17431278	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs17508877	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes]
rs1987025	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2127698	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2199882	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes]
rs2369589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs34713272	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35328100	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4294964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4544394	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4586602	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62174663	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6710286	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6712125	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6715910	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap]
rs6722425	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap]
rs6725125	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6730122	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6732176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751335	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6755921	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73978096	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558878	1.00[CHB][hapmap]
rs7562384	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7568756	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7568843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7569229	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7585738	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7586454	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7603313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs9973668	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];0.84[ASN][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	nsv532412	chr2:185347334-186108701	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv834484	chr2:185550006-185762728	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region lncRNA	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	chr2:185593200-185601400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr2:185593600-185593800	Enhancers	Fetal Brain Male	brain

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