Variant report

Variant	rs2011080
Chromosome Location	chr3:143756149-143756150
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:143690493..143693318-chr3:143755857..143758404,2	K562	blood:
2	chr3:143691185..143693513-chr3:143753379..143757056,4	K562	blood:
3	chr3:143749383..143753486-chr3:143754675..143758635,4	K562	blood:

Variant related genes	Relation type
ENSG00000181744	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1025984	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10513235	0.82[EUR][1000 genomes]
rs11914731	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13067695	0.90[ASN][1000 genomes]
rs13068298	0.90[ASN][1000 genomes]
rs13078840	0.82[EUR][1000 genomes]
rs13081286	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13086088	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16854772	0.83[EUR][1000 genomes]
rs16854816	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16854819	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16854884	0.90[ASN][1000 genomes]
rs16854886	0.90[ASN][1000 genomes]
rs17667256	0.90[EUR][1000 genomes]
rs1867608	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1867609	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1898265	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1961542	0.90[ASN][1000 genomes]
rs1979910	0.87[EUR][1000 genomes]
rs2164554	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2370171	0.90[ASN][1000 genomes]
rs34372603	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34379944	0.91[AMR][1000 genomes]
rs34683397	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35067746	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35085196	0.87[EUR][1000 genomes]
rs35193361	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35309714	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35629416	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35649888	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35788195	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35796781	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35877644	0.83[EUR][1000 genomes]
rs35885310	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs35887108	0.90[ASN][1000 genomes]
rs35959290	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4527375	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4561830	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4611822	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4613453	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4616638	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56196484	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs59768870	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60367530	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60676654	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62268458	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62269895	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6440210	0.86[EUR][1000 genomes]
rs6440212	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6766544	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6766685	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6767236	0.90[ASN][1000 genomes]
rs6769910	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6778627	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6779321	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6783089	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6791078	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6795008	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6796460	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs721572	0.85[EUR][1000 genomes]
rs7611326	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7634145	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7637912	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7639366	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7642551	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7642774	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7646187	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7650145	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7650172	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs920159	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9755502	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9755515	0.85[EUR][1000 genomes];0.95[ASN][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	nsv877568	chr3:143621140-143992630	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv3365190	chr3:143642195-143925886	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv591922	chr3:143645242-143825439	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1010117	chr3:143750590-144093775	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv536748	chr3:143750590-144093775	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr3:143754600-143761000	Weak transcription	Brain Substantia Nigra	brain
2	chr3:143755200-143758200	Weak transcription	Brain Anterior Caudate	brain
3	chr3:143755800-143759400	Weak transcription	Brain Inferior Temporal Lobe	brain

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