Variant report

Variant	rs11678974
Chromosome Location	chr2:213327544-213327545
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10166052	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10168850	0.97[EUR][1000 genomes]
rs10194811	0.97[EUR][1000 genomes]
rs10206719	0.88[ASN][1000 genomes]
rs11675580	0.97[EUR][1000 genomes]
rs11894208	0.84[EUR][1000 genomes]
rs12694281	0.80[EUR][1000 genomes]
rs13389790	0.97[EUR][1000 genomes]
rs13390934	0.80[EUR][1000 genomes]
rs13430619	0.96[EUR][1000 genomes]
rs1354617	0.91[EUR][1000 genomes]
rs1482378	0.87[ASN][1000 genomes]
rs1505369	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1505376	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1546371	0.81[EUR][1000 genomes]
rs17325842	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1842767	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1847671	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2047950	0.81[EUR][1000 genomes]
rs2062930	0.91[EUR][1000 genomes]
rs2101152	0.97[EUR][1000 genomes]
rs2128318	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2170529	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2220024	0.89[EUR][1000 genomes]
rs2371576	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2860080	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4366846	0.90[ASN][1000 genomes]
rs55992489	0.91[EUR][1000 genomes]
rs56009609	0.87[EUR][1000 genomes]
rs62186293	0.85[EUR][1000 genomes]
rs6435705	0.81[EUR][1000 genomes]
rs6711080	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6723878	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6726147	0.96[ASN][1000 genomes]
rs6731193	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6735807	0.90[EUR][1000 genomes]
rs974968	0.84[EUR][1000 genomes]
rs985995	0.89[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	nsv834527	chr2:213115966-213334308	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1004573	chr2:213186537-213365252	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
3	nsv875811	chr2:213200920-213347104	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv432024	chr2:213314899-213446726	Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213323400-213328400	Weak transcription	Fetal Heart	heart
2	chr2:213326800-213331400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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