Variant report

Variant	rs818216
Chromosome Location	chr3:85371951-85371952
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:85364029..85366181-chr3:85371658..85373734,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10440085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11127880	0.82[CHB][hapmap]
rs11127882	1.00[CHB][hapmap]
rs11127883	0.83[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.81[LWK][hapmap];0.82[MEX][hapmap];0.88[MKK][hapmap];0.86[TSI][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11127884	1.00[CHB][hapmap]
rs12053927	1.00[CHB][hapmap]
rs12486784	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12486846	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs12487792	0.81[YRI][hapmap]
rs12488308	0.83[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.88[JPT][hapmap];0.82[MEX][hapmap];0.89[MKK][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1349602	1.00[CHB][hapmap]
rs1376936	1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap];0.83[ASN][1000 genomes]
rs1376938	1.00[CHB][hapmap]
rs1433709	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1452122	1.00[CHB][hapmap]
rs1452123	1.00[CHB][hapmap]
rs1452126	1.00[CHB][hapmap]
rs1452127	1.00[CHB][hapmap]
rs1545926	0.82[CHB][hapmap]
rs1839938	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1968691	1.00[CHB][hapmap]
rs1985716	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2034619	1.00[CHB][hapmap]
rs2167606	1.00[CHB][hapmap]
rs2171141	0.89[CHD][hapmap]
rs2220244	0.82[CHB][hapmap]
rs2290339	1.00[CHB][hapmap]
rs58013523	0.81[ASN][1000 genomes]
rs58223718	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs59880141	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6775792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6780644	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6789415	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs6799730	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72909180	0.83[ASN][1000 genomes]
rs7630177	1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7632628	0.82[CHB][hapmap];0.89[CHD][hapmap];0.81[YRI][hapmap]
rs7635613	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.81[LWK][hapmap];0.82[MEX][hapmap];0.89[MKK][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7637876	0.82[ASW][hapmap];0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap]
rs7637886	0.93[CHD][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap];0.84[MKK][hapmap];0.86[TSI][hapmap];0.84[YRI][hapmap]
rs7648431	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs818214	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs818217	1.00[CHB][hapmap]
rs818218	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818221	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818222	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap]
rs818226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9681960	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9810830	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.88[MKK][hapmap];0.86[TSI][hapmap];0.85[YRI][hapmap]
rs9813787	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9818067	1.00[CHB][hapmap]
rs9866167	0.83[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.81[LWK][hapmap];0.82[MEX][hapmap];0.88[MKK][hapmap];0.86[TSI][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9882148	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.81[LWK][hapmap];0.82[MEX][hapmap];0.88[MKK][hapmap];0.86[TSI][hapmap];0.85[YRI][hapmap]
rs9882296	1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs994237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[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	nsv1002058	chr3:84757044-85389876	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv3419993	chr3:85030343-85663403	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
3	esv2753915	chr3:85071410-85624810	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv460747	chr3:85163167-85391672	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv590899	chr3:85163167-85391672	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1012601	chr3:85246185-85426996	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv536618	chr3:85246185-85426996	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv948806	chr3:85304744-85463443	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1013407	chr3:85307022-85460325	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
10	nsv870153	chr3:85326695-85426936	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1002238	chr3:85357855-85719373	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
12	nsv536619	chr3:85357855-85719373	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85368400-85373800	Weak transcription	Brain Angular Gyrus	brain
2	chr3:85369000-85377000	Weak transcription	Brain Anterior Caudate	brain

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