Variant report

Variant	rs2438109
Chromosome Location	chr12:67653617-67653618
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67652317..67654299-chr12:67658127..67660959,2	K562	blood:
2	chr12:67646762..67649274-chr12:67652316..67653916,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237766	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10506544	0.90[ASN][1000 genomes]
rs1060350	0.97[ASN][1000 genomes]
rs1066389	0.97[ASN][1000 genomes]
rs1066390	0.97[ASN][1000 genomes]
rs1066391	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1066396	0.97[ASN][1000 genomes]
rs1066398	0.97[ASN][1000 genomes]
rs1066399	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1066404	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10784619	0.97[ASN][1000 genomes]
rs10784624	0.81[ASN][1000 genomes]
rs1082700	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1082710	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10878596	0.95[ASN][1000 genomes]
rs10878601	0.87[ASN][1000 genomes]
rs1092600	0.97[ASN][1000 genomes]
rs1112445	0.90[ASN][1000 genomes]
rs11176647	0.93[ASN][1000 genomes]
rs11176657	0.97[ASN][1000 genomes]
rs11176677	0.97[ASN][1000 genomes]
rs11176683	0.97[ASN][1000 genomes]
rs11176690	0.92[ASN][1000 genomes]
rs11176695	0.90[ASN][1000 genomes]
rs11176700	0.87[ASN][1000 genomes]
rs1136080	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1137465	0.97[ASN][1000 genomes]
rs1143954	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1143956	0.95[ASN][1000 genomes]
rs1144939	0.93[ASN][1000 genomes]
rs1152877	0.97[ASN][1000 genomes]
rs1152895	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1152896	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1152897	0.97[ASN][1000 genomes]
rs1152898	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1152901	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1152902	0.97[ASN][1000 genomes]
rs1161085	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1161087	0.87[ASN][1000 genomes]
rs1161089	0.97[ASN][1000 genomes]
rs1161090	0.97[ASN][1000 genomes]
rs1183126	0.93[ASN][1000 genomes]
rs1184743	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1185918	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12366819	0.97[ASN][1000 genomes]
rs12369715	0.90[ASN][1000 genomes]
rs12370954	0.96[ASN][1000 genomes]
rs12422358	0.90[ASN][1000 genomes]
rs12422968	0.97[ASN][1000 genomes]
rs12424158	0.97[ASN][1000 genomes]
rs1252364	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1252386	0.90[ASN][1000 genomes]
rs1252387	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1252388	0.90[ASN][1000 genomes]
rs1252402	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1252405	0.97[ASN][1000 genomes]
rs1252407	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1252419	0.95[ASN][1000 genomes]
rs1252422	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1252424	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12580790	0.97[ASN][1000 genomes]
rs1272089	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1392587	0.95[ASN][1000 genomes]
rs1500431	0.92[ASN][1000 genomes]
rs1583648	0.92[ASN][1000 genomes]
rs1612693	0.91[ASN][1000 genomes]
rs1697232	0.93[ASN][1000 genomes]
rs1697233	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17781745	0.93[ASN][1000 genomes]
rs1921000	0.87[ASN][1000 genomes]
rs2028213	0.97[ASN][1000 genomes]
rs2091698	0.96[ASN][1000 genomes]
rs2118311	0.92[ASN][1000 genomes]
rs2178466	0.82[ASN][1000 genomes]
rs2248751	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2576941	0.95[ASN][1000 genomes]
rs3861890	0.95[ASN][1000 genomes]
rs4913538	0.95[ASN][1000 genomes]
rs4913540	0.97[ASN][1000 genomes]
rs4913541	0.92[ASN][1000 genomes]
rs61918267	0.94[ASN][1000 genomes]
rs61920672	0.97[ASN][1000 genomes]
rs698123	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs710626	0.97[ASN][1000 genomes]
rs710627	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs710628	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs710629	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs710630	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs710800	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7134743	0.90[ASN][1000 genomes]
rs775306	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs775309	0.95[ASN][1000 genomes]
rs775312	0.95[ASN][1000 genomes]
rs775644	0.92[ASN][1000 genomes]
rs775645	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs775651	0.87[ASN][1000 genomes]
rs775652	0.87[ASN][1000 genomes]
rs775655	0.87[ASN][1000 genomes]
rs775660	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs796522	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7968645	0.97[ASN][1000 genomes]
rs7973565	0.97[ASN][1000 genomes]
rs7977430	0.97[ASN][1000 genomes]
rs811820	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs811827	0.97[ASN][1000 genomes]
rs814290	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv3450703	chr12:67651785-67656783	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2438109	CAND1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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