Variant report

Variant	rs12119640
Chromosome Location	chr1:171316516-171316517
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12065835	1.00[EUR][1000 genomes]
rs12117599	0.83[EUR][1000 genomes]
rs12120784	1.00[EUR][1000 genomes]
rs12121703	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12122309	1.00[EUR][1000 genomes]
rs12130175	0.91[EUR][1000 genomes]
rs12131722	0.91[EUR][1000 genomes]
rs12138802	0.83[EUR][1000 genomes]
rs12142448	0.90[EUR][1000 genomes]
rs12142487	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16864434	0.83[EUR][1000 genomes]
rs60349465	0.83[EUR][1000 genomes]
rs6667529	0.83[EUR][1000 genomes]
rs6674434	1.00[EUR][1000 genomes]
rs6674736	0.91[EUR][1000 genomes]
rs6675911	1.00[EUR][1000 genomes]
rs6699345	1.00[EUR][1000 genomes]
rs7516764	0.83[EUR][1000 genomes]
rs7518815	1.00[EUR][1000 genomes]
rs7525073	1.00[EUR][1000 genomes]
rs7545776	0.83[EUR][1000 genomes]
rs7548898	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv831882	chr1:171166224-171326083	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1002423	chr1:171294384-171376936	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv548188	chr1:171308832-171371998	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171315400-171324800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:171315600-171319800	Weak transcription	Liver	Liver
3	chr1:171315600-171322400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:171316400-171316600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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