Variant report

Variant	rs2421708
Chromosome Location	chr1:171150045-171150046
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXP2	chr1:171149796-171150051	SK-N-MC	brain:	n/a	n/a
2	TCF12	chr1:171149816-171150318	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr1:171149768-171150186	SK-N-MC	brain:	n/a	n/a
4	GATA3	chr1:171149779-171150294	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
FMO2	TF binding region

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10912525	0.97[AFR][1000 genomes]
rs12072579	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12076944	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12078869	0.80[AFR][1000 genomes]
rs12079736	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12082366	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12086788	0.95[AFR][1000 genomes]
rs12087971	0.95[AFR][1000 genomes]
rs12091865	0.94[AFR][1000 genomes]
rs16864136	0.94[AFR][1000 genomes]
rs16864165	0.94[AFR][1000 genomes]
rs2020860	0.94[AFR][1000 genomes]
rs28369791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28369796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28369826	0.93[AFR][1000 genomes]
rs28369834	0.94[AFR][1000 genomes]
rs28369837	0.94[AFR][1000 genomes]
rs28369850	0.94[AFR][1000 genomes]
rs28369868	0.92[AFR][1000 genomes]
rs28369872	0.91[AFR][1000 genomes]
rs28369886	0.82[AFR][1000 genomes]
rs28969551	0.94[AFR][1000 genomes]
rs29001609	0.88[AFR][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	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	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171143800-171153200	Weak transcription	Fetal Lung	lung
2	chr1:171148200-171153400	Weak transcription	Aorta	Aorta
3	chr1:171149600-171150600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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