Variant report

Variant	rs2039952
Chromosome Location	chr13:30540022-30540023
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:39)

rs_ID	r²[population]
rs11147404	0.98[ASN][1000 genomes]
rs11841228	0.91[ASN][1000 genomes]
rs12429187	0.98[ASN][1000 genomes]
rs12429599	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12430579	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12584184	0.98[ASN][1000 genomes]
rs12584938	0.90[ASN][1000 genomes]
rs4769789	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs481209	0.98[ASN][1000 genomes]
rs501259	0.98[ASN][1000 genomes]
rs502203	0.98[ASN][1000 genomes]
rs502944	0.98[ASN][1000 genomes]
rs533219	0.98[ASN][1000 genomes]
rs553661	0.98[ASN][1000 genomes]
rs564388	0.98[ASN][1000 genomes]
rs576712	0.91[ASN][1000 genomes]
rs641826	0.98[ASN][1000 genomes]
rs643508	0.98[ASN][1000 genomes]
rs644413	0.95[ASN][1000 genomes]
rs6490436	0.88[ASN][1000 genomes]
rs6490437	0.89[ASN][1000 genomes]
rs649164	0.88[ASN][1000 genomes]
rs655338	0.98[ASN][1000 genomes]
rs66986978	0.96[ASN][1000 genomes]
rs73159331	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73159335	0.84[AFR][1000 genomes]
rs73159342	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7327777	0.98[ASN][1000 genomes]
rs7332851	0.88[ASN][1000 genomes]
rs7333780	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7334559	0.91[ASN][1000 genomes]
rs7334714	0.91[ASN][1000 genomes]
rs7358905	0.95[ASN][1000 genomes]
rs7982470	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7982637	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7983558	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7990062	0.90[ASN][1000 genomes]
rs9314992	0.91[ASN][1000 genomes]
rs9551791	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr13:30540000-30542000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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