Variant report

Variant	rs12043960
Chromosome Location	chr1:193391538-193391539
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10494679	0.81[AMR][1000 genomes]
rs10494680	0.81[AMR][1000 genomes]
rs10921344	0.82[ASN][1000 genomes]
rs10921347	0.99[ASN][1000 genomes]
rs10921348	0.99[ASN][1000 genomes]
rs12025186	0.85[ASN][1000 genomes]
rs12025393	0.85[ASN][1000 genomes]
rs12027971	0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12033428	0.95[ASN][1000 genomes]
rs12037892	0.98[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12043289	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12044333	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12047390	0.89[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs12048579	0.84[ASN][1000 genomes]
rs12125235	0.84[ASN][1000 genomes]
rs12145954	0.85[ASN][1000 genomes]
rs1361404	0.89[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs1361405	0.89[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs16835319	0.85[ASN][1000 genomes]
rs16835320	0.85[ASN][1000 genomes]
rs16835338	0.89[ASN][1000 genomes]
rs16835376	0.85[AMR][1000 genomes]
rs1951916	0.99[ASN][1000 genomes]
rs2147304	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2181858	0.85[ASN][1000 genomes]
rs2209304	0.89[ASN][1000 genomes]
rs2275506	0.85[ASN][1000 genomes]
rs2275507	0.83[ASN][1000 genomes]
rs28725257	0.87[ASN][1000 genomes]
rs4403612	0.89[ASN][1000 genomes]
rs4428863	0.89[ASN][1000 genomes]
rs4556337	0.99[ASN][1000 genomes]
rs4657751	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4657858	0.86[ASN][1000 genomes]
rs61082463	0.85[ASN][1000 genomes]
rs61648161	0.85[ASN][1000 genomes]
rs6656737	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6667545	0.99[ASN][1000 genomes]
rs6686065	0.85[ASN][1000 genomes]
rs6693734	0.89[CHB][hapmap]
rs6694727	0.92[ASN][1000 genomes]
rs6697195	0.85[ASN][1000 genomes]
rs7367986	0.85[ASN][1000 genomes]
rs7417352	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7544027	0.86[ASN][1000 genomes]
rs7555466	0.86[ASN][1000 genomes]
rs877913	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv832159	chr1:193342434-193525072	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv998663	chr1:193343230-193574004	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv535254	chr1:193343230-193574004	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv548661	chr1:193391298-193470234	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong 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	chr1:193388200-193391800	Weak transcription	Fetal Lung	lung
2	chr1:193388200-193397200	Weak transcription	Right Atrium	heart

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