Variant report

Variant	rs1398060
Chromosome Location	chr2:188151940-188151941
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10177093	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10197758	0.84[EUR][1000 genomes]
rs10931281	0.84[EUR][1000 genomes]
rs10931285	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1098424	0.86[EUR][1000 genomes]
rs1098425	0.87[EUR][1000 genomes]
rs11883913	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12464003	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12469000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12475425	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12477273	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12479177	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12619637	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12986579	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13018456	0.87[EUR][1000 genomes]
rs13383378	0.85[EUR][1000 genomes]
rs13387337	0.86[EUR][1000 genomes]
rs13406361	0.83[EUR][1000 genomes]
rs13414232	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13431546	0.84[EUR][1000 genomes]
rs13432218	0.84[EUR][1000 genomes]
rs13432996	0.85[EUR][1000 genomes]
rs1398059	0.80[AFR][1000 genomes]
rs1511879	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1528235	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1528240	0.81[ASN][1000 genomes]
rs1918900	0.87[EUR][1000 genomes]
rs1918906	0.86[EUR][1000 genomes]
rs3771089	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3771091	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4356630	0.85[EUR][1000 genomes]
rs4399679	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4436927	0.87[EUR][1000 genomes]
rs4441433	0.85[EUR][1000 genomes]
rs62172531	0.85[EUR][1000 genomes]
rs6710629	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6742071	0.86[EUR][1000 genomes]
rs7597989	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs870509	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs870882	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9646807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1003061	chr2:187950057-188282330	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1000617	chr2:187950057-188290511	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2763652	chr2:188042583-188153257	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv533935	chr2:188089148-188284766	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv584035	chr2:188105078-188153421	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv431868	chr2:188119621-188159750	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 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	chr2:188151800-188152200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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