Variant report

Variant	rs9819830
Chromosome Location	chr3:85430137-85430138
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:85425596..85428443-chr3:85428590..85430282,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10154865	0.87[EUR][1000 genomes]
rs1025531	1.00[CEU][hapmap];0.93[YRI][hapmap]
rs1030721	1.00[CEU][hapmap];0.93[YRI][hapmap]
rs10433498	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10511087	0.88[CHB][hapmap]
rs11127890	1.00[CEU][hapmap];0.93[YRI][hapmap]
rs11127891	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11127892	0.81[YRI][hapmap]
rs11705775	0.80[ASN][1000 genomes]
rs11716233	0.84[EUR][1000 genomes]
rs12485813	0.81[YRI][hapmap]
rs12486274	0.81[YRI][hapmap]
rs12491967	0.81[YRI][hapmap]
rs12493423	0.86[CHB][hapmap];0.85[CHD][hapmap];0.93[JPT][hapmap]
rs12493645	0.81[YRI][hapmap]
rs12498010	0.87[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12633762	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12633910	0.86[CHB][hapmap];0.93[CHD][hapmap]
rs12714625	0.86[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.93[JPT][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap];0.83[ASN][1000 genomes]
rs13068434	0.84[EUR][1000 genomes]
rs13070166	0.82[EUR][1000 genomes]
rs13076632	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13076830	0.87[EUR][1000 genomes]
rs13077660	0.86[TSI][hapmap]
rs13085170	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13099750	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1368737	0.93[JPT][hapmap]
rs1368739	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1368740	1.00[CEU][hapmap];0.87[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1368742	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs1368743	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1375547	0.83[TSI][hapmap]
rs1433711	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1821349	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2117151	0.95[CEU][hapmap];0.93[YRI][hapmap]
rs2163972	0.86[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.93[JPT][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap];0.80[ASN][1000 genomes]
rs2196096	0.86[TSI][hapmap];0.89[EUR][1000 genomes]
rs2196097	0.89[EUR][1000 genomes]
rs2196098	0.84[EUR][1000 genomes]
rs2326313	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4279114	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6549024	1.00[CEU][hapmap];0.81[YRI][hapmap]
rs6772991	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6808159	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71626887	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7627971	0.85[GIH][hapmap];0.86[MEX][hapmap]
rs7628948	0.86[TSI][hapmap]
rs7650834	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs919874	0.81[YRI][hapmap]
rs9309977	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9309981	0.85[ASW][hapmap];1.00[CEU][hapmap];0.82[GIH][hapmap];0.83[LWK][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap]
rs9309982	0.85[ASW][hapmap];1.00[CEU][hapmap];0.90[GIH][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.94[TSI][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9809258	0.86[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs9810724	0.83[CEU][hapmap]
rs9814516	0.87[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9814919	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9822731	0.92[TSI][hapmap];0.88[EUR][1000 genomes]
rs9833314	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9838811	0.85[ASW][hapmap];0.92[CEU][hapmap];0.90[GIH][hapmap];0.83[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.91[TSI][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9841144	0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs9844512	0.86[TSI][hapmap]
rs9854869	0.88[EUR][1000 genomes]
rs9861237	0.86[CHB][hapmap];0.85[CHD][hapmap];0.93[JPT][hapmap]
rs9863620	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9865191	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9865745	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9870448	0.88[EUR][1000 genomes]
rs9879025	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9880919	0.93[ASW][hapmap];1.00[CEU][hapmap];0.90[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.93[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	nsv1008956	chr3:85394816-85460325	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
8	nsv536620	chr3:85394816-85460325	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1004254	chr3:85394816-85514910	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
10	nsv536621	chr3:85394816-85514910	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85416200-85450200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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