Variant report

Variant	rs72907984
Chromosome Location	chr2:188950442-188950443
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10460382	0.94[ASN][1000 genomes]
rs10931333	0.80[ASN][1000 genomes]
rs10931334	0.80[ASN][1000 genomes]
rs10931336	0.80[ASN][1000 genomes]
rs12465138	0.80[ASN][1000 genomes]
rs12478374	0.94[ASN][1000 genomes]
rs12615631	0.94[ASN][1000 genomes]
rs12987446	0.88[EUR][1000 genomes]
rs12990029	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12992671	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12993224	0.87[ASN][1000 genomes]
rs13005325	0.80[ASN][1000 genomes]
rs13006933	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13015608	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13021054	0.94[ASN][1000 genomes]
rs13021984	0.94[ASN][1000 genomes]
rs13023212	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13024023	0.94[ASN][1000 genomes]
rs13027011	0.80[ASN][1000 genomes]
rs13027989	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1371517	0.80[ASN][1000 genomes]
rs1371518	0.80[ASN][1000 genomes]
rs1371527	0.94[ASN][1000 genomes]
rs1371528	0.94[ASN][1000 genomes]
rs1371529	0.94[ASN][1000 genomes]
rs1371530	0.95[ASN][1000 genomes]
rs1439894	0.80[ASN][1000 genomes]
rs1439898	0.94[ASN][1000 genomes]
rs1439900	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1439901	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1439905	0.80[ASN][1000 genomes]
rs1439909	0.94[ASN][1000 genomes]
rs16829628	0.85[EUR][1000 genomes]
rs16829631	0.88[EUR][1000 genomes]
rs16829839	0.94[ASN][1000 genomes]
rs2028374	0.94[ASN][1000 genomes]
rs2119091	0.80[ASN][1000 genomes]
rs2350563	0.94[ASN][1000 genomes]
rs34511378	0.90[EUR][1000 genomes]
rs34555222	0.80[ASN][1000 genomes]
rs34699014	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34836837	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35113537	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35311707	0.94[ASN][1000 genomes]
rs4427987	0.94[ASN][1000 genomes]
rs4666757	0.80[ASN][1000 genomes]
rs4667212	0.94[ASN][1000 genomes]
rs4667213	0.80[ASN][1000 genomes]
rs55755436	0.94[ASN][1000 genomes]
rs62180847	0.94[ASN][1000 genomes]
rs6434262	0.94[ASN][1000 genomes]
rs6707652	0.94[ASN][1000 genomes]
rs6707875	0.80[ASN][1000 genomes]
rs67082838	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6712945	0.94[ASN][1000 genomes]
rs6723998	0.94[ASN][1000 genomes]
rs6742606	0.80[ASN][1000 genomes]
rs67732490	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67804711	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs68028976	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72903888	0.88[EUR][1000 genomes]
rs72909886	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7565935	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs920408	0.94[ASN][1000 genomes]
rs971268	0.94[ASN][1000 genomes]
rs997044	0.83[ASN][1000 genomes]
rs997045	0.83[ASN][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	nsv533353	chr2:188498301-189024655	Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv875602	chr2:188923773-189016215	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv875603	chr2:188923773-189025977	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv584044	chr2:188928433-189016215	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1002714	chr2:188934297-189025084	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv584045	chr2:188949715-189003106	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188944600-188988000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr2:188950200-188950600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:188950200-188950800	Active TSS	Brain Anterior Caudate	brain
4	chr2:188950400-188950600	Active TSS	Brain Angular Gyrus	brain
5	chr2:188950400-188950800	Enhancers	H9 Cell Line	embryonic stem cell
6	chr2:188950400-188950800	Active TSS	Brain Hippocampus Middle	brain
7	chr2:188950400-188950800	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr2:188950400-188950800	Active TSS	Brain Substantia Nigra	brain
9	chr2:188950400-188951000	Active TSS	Brain Cingulate Gyrus	brain

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