Variant report

Variant	rs6547116
Chromosome Location	chr2:77248364-77248365
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10183619	0.86[EUR][1000 genomes]
rs10183642	0.86[EUR][1000 genomes]
rs10186912	0.86[EUR][1000 genomes]
rs10190179	0.95[EUR][1000 genomes]
rs10190198	0.95[EUR][1000 genomes]
rs10190443	0.94[EUR][1000 genomes]
rs10196630	0.86[EUR][1000 genomes]
rs10196749	0.85[EUR][1000 genomes]
rs10196758	0.86[EUR][1000 genomes]
rs10196801	0.86[EUR][1000 genomes]
rs10196895	0.86[EUR][1000 genomes]
rs10196939	0.86[EUR][1000 genomes]
rs10201530	0.88[EUR][1000 genomes]
rs12621674	0.87[EUR][1000 genomes]
rs12987907	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12992834	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13013784	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13427438	0.86[EUR][1000 genomes]
rs13427514	0.86[EUR][1000 genomes]
rs1345136	0.91[EUR][1000 genomes]
rs1348831	0.89[EUR][1000 genomes]
rs1374388	0.95[EUR][1000 genomes]
rs1374389	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1374390	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1446693	0.89[EUR][1000 genomes]
rs1446695	0.88[EUR][1000 genomes]
rs1446697	0.95[EUR][1000 genomes]
rs1446698	0.94[EUR][1000 genomes]
rs1446701	0.92[EUR][1000 genomes]
rs1446702	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1446703	0.92[EUR][1000 genomes]
rs1446704	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1446705	0.92[EUR][1000 genomes]
rs1446707	0.89[EUR][1000 genomes]
rs1446710	0.81[EUR][1000 genomes]
rs1446712	0.81[EUR][1000 genomes]
rs1470504	0.86[EUR][1000 genomes]
rs1470505	0.86[EUR][1000 genomes]
rs1470506	0.86[EUR][1000 genomes]
rs1470507	0.86[EUR][1000 genomes]
rs1470508	0.86[EUR][1000 genomes]
rs1584235	0.86[EUR][1000 genomes]
rs1584236	0.86[EUR][1000 genomes]
rs1584237	0.86[EUR][1000 genomes]
rs17013592	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17013595	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1838880	0.87[EUR][1000 genomes]
rs1838881	0.87[EUR][1000 genomes]
rs2028913	0.93[EUR][1000 genomes]
rs2121409	0.95[EUR][1000 genomes]
rs2121410	0.86[EUR][1000 genomes]
rs2121411	0.86[EUR][1000 genomes]
rs2197603	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2860937	0.86[EUR][1000 genomes]
rs2860938	0.90[EUR][1000 genomes]
rs2901812	0.86[EUR][1000 genomes]
rs34372910	0.87[EUR][1000 genomes]
rs34632326	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35038238	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35659577	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4143794	0.81[EUR][1000 genomes]
rs4143796	0.81[EUR][1000 genomes]
rs4853286	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4853287	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4853288	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4853289	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4853291	0.95[EUR][1000 genomes]
rs56314043	0.86[EUR][1000 genomes]
rs6547110	0.84[EUR][1000 genomes]
rs6547114	0.89[EUR][1000 genomes]
rs6547115	0.94[EUR][1000 genomes]
rs6547117	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6547118	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6718391	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6718440	0.93[EUR][1000 genomes]
rs6732462	0.94[EUR][1000 genomes]
rs6739222	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6743454	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs727000	0.92[EUR][1000 genomes]
rs7561361	0.87[EUR][1000 genomes]
rs7563917	0.84[EUR][1000 genomes]
rs7569624	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7591186	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7597923	0.92[EUR][1000 genomes]
rs7604936	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7605187	0.92[EUR][1000 genomes]
rs765572	0.93[EUR][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	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
2	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
3	nsv519950	chr2:77213103-77256291	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv997284	chr2:77233426-77303198	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1007408	chr2:77235194-77255152	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr2:77244800-77249600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:77244800-77249600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:77248200-77248400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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