Variant report

Variant	rs7581116
Chromosome Location	chr2:148505519-148505520
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:148505485..148507558-chr2:148536653..148539405,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10170800	0.92[ASN][1000 genomes]
rs10180363	0.86[ASN][1000 genomes]
rs10181608	0.92[ASN][1000 genomes]
rs10183294	0.92[ASN][1000 genomes]
rs10497018	0.81[ASN][1000 genomes]
rs10497023	0.92[ASN][1000 genomes]
rs1113958	0.81[ASN][1000 genomes]
rs12464481	0.81[ASN][1000 genomes]
rs12464921	0.81[ASN][1000 genomes]
rs12464985	0.81[ASN][1000 genomes]
rs12465277	0.92[ASN][1000 genomes]
rs12467064	0.81[ASN][1000 genomes]
rs12467429	0.81[ASN][1000 genomes]
rs12468864	0.95[ASN][1000 genomes]
rs12474024	0.81[ASN][1000 genomes]
rs12691767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12988552	0.92[ASN][1000 genomes]
rs13004499	0.97[ASN][1000 genomes]
rs13014274	0.92[ASN][1000 genomes]
rs13026223	0.95[ASN][1000 genomes]
rs13033070	0.81[ASN][1000 genomes]
rs1406447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1424952	0.87[ASN][1000 genomes]
rs1424953	0.90[ASN][1000 genomes]
rs1528837	0.81[ASN][1000 genomes]
rs1528839	0.92[ASN][1000 genomes]
rs16827722	0.91[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs1919440	0.92[ASN][1000 genomes]
rs1919441	0.92[ASN][1000 genomes]
rs35826590	0.81[ASN][1000 genomes]
rs35905220	0.81[ASN][1000 genomes]
rs4662292	0.97[ASN][1000 genomes]
rs4662293	0.95[ASN][1000 genomes]
rs4662548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6721628	0.81[ASN][1000 genomes]
rs6728992	0.92[ASN][1000 genomes]
rs7560139	0.92[ASN][1000 genomes]
rs7563228	0.89[ASN][1000 genomes]
rs7564409	0.92[ASN][1000 genomes]
rs7568718	0.95[ASN][1000 genomes]
rs7590862	0.92[ASN][1000 genomes]
rs7595433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7605932	0.95[ASN][1000 genomes]
rs9653190	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[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	nsv875275	chr2:148166428-148711242	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr2:148504800-148505600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:148505000-148506000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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