Variant report

Variant	rs1991693
Chromosome Location	chr8:52271549-52271550
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 127 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs1003095	0.89[EUR][1000 genomes]
rs10091279	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10092020	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10101803	0.89[EUR][1000 genomes]
rs1017351	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1017352	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1017353	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1017354	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10958261	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11776636	0.88[EUR][1000 genomes]
rs11778440	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11778598	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11993179	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1219677	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1219678	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1219680	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1236097	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12543420	0.80[EUR][1000 genomes]
rs12550267	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1346954	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1367817	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1431619	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1431620	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1431621	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1431622	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1431623	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1431624	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1431625	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1431626	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1431627	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1431628	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1431629	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1473240	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1560508	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1560509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1560510	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1583197	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16916011	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17261657	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1811360	0.90[ASN][1000 genomes]
rs1975113	0.90[ASN][1000 genomes]
rs1991691	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1991692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28522270	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28805429	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2915454	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2915456	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2915457	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2915458	0.87[EUR][1000 genomes]
rs2915459	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2915460	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2915461	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2915462	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2915465	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2915467	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915468	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915469	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915470	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915471	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915472	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915473	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915474	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2915475	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915478	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915482	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915483	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915484	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915486	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915487	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2915488	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2915489	0.87[EUR][1000 genomes]
rs2915490	0.87[EUR][1000 genomes]
rs2915492	0.90[ASN][1000 genomes]
rs2915493	0.90[ASN][1000 genomes]
rs2976983	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2976984	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2976985	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2976986	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2976987	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2976988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2976989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2976990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2976991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2976992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2976993	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2976994	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2976998	0.90[ASN][1000 genomes]
rs2976999	0.90[ASN][1000 genomes]
rs2977000	0.90[ASN][1000 genomes]
rs2977001	0.90[ASN][1000 genomes]
rs3097703	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3097704	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3097705	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3097706	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3115784	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35426341	0.81[EUR][1000 genomes]
rs4471026	0.85[EUR][1000 genomes]
rs4873190	0.82[EUR][1000 genomes]
rs4873545	0.89[EUR][1000 genomes]
rs60579236	0.86[EUR][1000 genomes]
rs60646659	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67110071	0.86[EUR][1000 genomes]
rs67134977	0.89[EUR][1000 genomes]
rs67152383	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6981422	0.89[EUR][1000 genomes]
rs6996951	0.89[EUR][1000 genomes]
rs7000176	0.89[EUR][1000 genomes]
rs7003720	0.85[EUR][1000 genomes]
rs7016775	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs726127	0.89[EUR][1000 genomes]
rs766788	0.89[EUR][1000 genomes]
rs766789	0.89[EUR][1000 genomes]
rs766790	0.89[EUR][1000 genomes]
rs7846115	0.89[EUR][1000 genomes]
rs9298444	0.89[EUR][1000 genomes]
rs969257	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs972025	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs972026	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv948338	chr8:52060314-52368754	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv890895	chr8:52190571-52615191	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv3421142	chr8:52270899-52275097	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52262200-52275600	Weak transcription	Right Atrium	heart
2	chr8:52264200-52284200	Weak transcription	Right Ventricle	heart
3	chr8:52270000-52273200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:52270000-52275600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:52271000-52271800	Strong transcription	Left Ventricle	heart
6	chr8:52271200-52271600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:52271200-52271600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:52271200-52271600	ZNF genes & repeats	Aorta	Aorta

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