Variant report

Variant	rs1412638
Chromosome Location	chr1:196995638-196995639
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10733087	0.82[AMR][1000 genomes]
rs10754213	0.82[AMR][1000 genomes]
rs1102176	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1115246	0.87[AMR][1000 genomes]
rs1115247	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12039586	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12677	0.82[AMR][1000 genomes]
rs1332669	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1412631	0.84[AMR][1000 genomes]
rs1412632	0.87[AMR][1000 genomes]
rs1412633	0.84[AMR][1000 genomes]
rs1412639	0.80[EUR][1000 genomes]
rs1537319	0.82[AMR][1000 genomes]
rs1576878	0.80[EUR][1000 genomes]
rs1627765	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs1759006	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs1759008	0.89[AMR][1000 genomes]
rs1759013	0.87[AMR][1000 genomes]
rs1794003	0.87[AMR][1000 genomes]
rs1794010	0.87[AMR][1000 genomes]
rs2336595	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2336597	0.80[EUR][1000 genomes]
rs4915148	0.87[AMR][1000 genomes]
rs4915313	0.82[AMR][1000 genomes]
rs5997	0.87[AMR][1000 genomes]
rs6003	0.89[AMR][1000 genomes]
rs857017	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs857020	0.87[AMR][1000 genomes]
rs857021	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs857022	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs857023	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs857026	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs857027	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs865071	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv2756880	chr1:196709223-197066074	ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	esv34978	chr1:196733133-197011577	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv430158	chr1:196733133-197011577	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv430180	chr1:196739837-197007479	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1003573	chr1:196825211-197005106	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv2757767	chr1:196977799-197169772	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 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	chr1:196995200-196998400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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