Variant report

Variant	rs4852421
Chromosome Location	chr2:77159809-77159810
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10165789	0.88[ASN][1000 genomes]
rs10168341	0.88[EUR][1000 genomes]
rs10170002	0.89[EUR][1000 genomes]
rs10186670	0.89[EUR][1000 genomes]
rs10187924	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10193030	0.82[EUR][1000 genomes]
rs10193677	0.89[EUR][1000 genomes]
rs10194816	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10195940	0.89[EUR][1000 genomes]
rs10204605	0.89[EUR][1000 genomes]
rs10205089	0.88[EUR][1000 genomes]
rs10205987	0.96[ASN][1000 genomes]
rs10209929	0.89[EUR][1000 genomes]
rs10520170	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126577	0.89[EUR][1000 genomes]
rs11884377	0.89[EUR][1000 genomes]
rs11885408	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11886263	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11886826	0.89[EUR][1000 genomes]
rs11895300	0.89[EUR][1000 genomes]
rs11899785	0.88[EUR][1000 genomes]
rs12988557	0.96[ASN][1000 genomes]
rs13007111	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13016203	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13025838	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13413625	0.95[EUR][1000 genomes]
rs13414920	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13417401	0.90[EUR][1000 genomes]
rs13423489	0.89[EUR][1000 genomes]
rs1446711	0.84[EUR][1000 genomes]
rs17013381	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013387	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013449	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17405232	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1947115	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1947116	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34256194	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35573263	0.88[ASN][1000 genomes]
rs4852423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7355718	0.96[ASN][1000 genomes]
rs7583560	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9309506	0.89[EUR][1000 genomes]
rs9309507	0.89[EUR][1000 genomes]
rs9973564	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9973567	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874322	chr2:77031247-77209750	Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv2752990	chr2:77038541-77217310	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv874324	chr2:77048896-77201916	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv874327	chr2:77085752-77209750	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv874328	chr2:77096124-77196122	Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv874329	chr2:77096124-77209750	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv1819739	chr2:77103474-77162163	Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv874330	chr2:77103719-77209750	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv834266	chr2:77120236-77287504	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv949670	chr2:77125218-77712607	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77146600-77167400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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