Variant report

Variant	rs12040832
Chromosome Location	chr1:193326546-193326547
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10754055	0.80[EUR][1000 genomes]
rs10801194	0.80[EUR][1000 genomes]
rs10921343	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10921344	0.96[ASN][1000 genomes]
rs12025186	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12025393	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12032958	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12033428	0.81[ASN][1000 genomes]
rs12034095	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12037055	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12040365	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12041558	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12041893	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12047390	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12048579	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12125235	0.92[ASN][1000 genomes]
rs12145954	0.93[ASN][1000 genomes]
rs1221502	0.83[EUR][1000 genomes]
rs1339961	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1361404	0.93[ASN][1000 genomes]
rs1361405	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1616234	0.80[EUR][1000 genomes]
rs1632444	0.80[EUR][1000 genomes]
rs16835282	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16835304	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16835319	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16835320	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16835338	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1749429	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1749430	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1749431	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1749432	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1769999	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1972345	0.83[EUR][1000 genomes]
rs2050799	0.96[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2181858	0.91[ASN][1000 genomes]
rs2254646	0.80[EUR][1000 genomes]
rs2275506	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2275507	0.92[ASN][1000 genomes]
rs2477549	0.82[EUR][1000 genomes]
rs4403612	0.88[ASN][1000 genomes]
rs4428863	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4657854	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4657855	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4657856	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4657858	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs497362	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs503265	0.80[EUR][1000 genomes]
rs515964	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs531327	0.83[ASN][1000 genomes]
rs543788	0.80[EUR][1000 genomes]
rs560900	0.83[EUR][1000 genomes]
rs569656	0.81[EUR][1000 genomes]
rs578639	0.83[EUR][1000 genomes]
rs59264807	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61082463	0.91[ASN][1000 genomes]
rs61648161	0.91[ASN][1000 genomes]
rs6428163	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6428166	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6671476	0.80[EUR][1000 genomes]
rs6686065	0.91[ASN][1000 genomes]
rs6693734	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6694727	0.81[ASN][1000 genomes]
rs6697195	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7367986	0.90[ASN][1000 genomes]
rs7528595	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7534504	1.00[ASN][1000 genomes]
rs7544027	0.90[ASN][1000 genomes]
rs7550521	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7555466	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv997891	chr1:193271839-193566441	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1004003	chr1:193322299-193477254	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv535253	chr1:193322299-193477254	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	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	chr1:193326400-193353000	Weak transcription	Fetal Lung	lung

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