Variant report

Variant	rs527430
Chromosome Location	chr1:47918821-47918822
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47909689..47914443-chr1:47914601..47918861,5	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11211529	1.00[EUR][1000 genomes]
rs11211536	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12021515	1.00[EUR][1000 genomes]
rs12026379	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12030146	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12032801	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12049163	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12049416	1.00[EUR][1000 genomes]
rs1680019	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17103177	1.00[EUR][1000 genomes]
rs17103179	1.00[EUR][1000 genomes]
rs17103196	1.00[EUR][1000 genomes]
rs1765156	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1813427	1.00[EUR][1000 genomes]
rs2253511	1.00[EUR][1000 genomes]
rs2506984	1.00[EUR][1000 genomes]
rs2622906	1.00[EUR][1000 genomes]
rs2622911	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2820966	0.89[AFR][1000 genomes]
rs3738317	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs472993	1.00[AFR][1000 genomes]
rs479363	0.95[AFR][1000 genomes]
rs4926868	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs495482	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs506329	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs522768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs527133	0.95[AFR][1000 genomes]
rs557101	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs567097	0.80[AFR][1000 genomes]
rs59366267	0.82[ASN][1000 genomes]
rs60042036	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61784813	0.86[ASN][1000 genomes]
rs642750	1.00[EUR][1000 genomes]
rs6665542	0.89[AFR][1000 genomes]
rs6683513	0.87[EUR][1000 genomes]
rs6688278	0.87[EUR][1000 genomes]
rs66904716	1.00[EUR][1000 genomes]
rs6703935	1.00[EUR][1000 genomes]
rs693036	1.00[EUR][1000 genomes]
rs72480616	1.00[EUR][1000 genomes]
rs72553947	1.00[EUR][1000 genomes]
rs72553949	1.00[EUR][1000 genomes]
rs72637985	0.87[EUR][1000 genomes]
rs9436456	1.00[AFR][1000 genomes]
rs9436902	0.95[AFR][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	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2755190	chr1:47907580-48048680	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Response to anti-depressant treatment in major depressive disorder	22041458	GWAS catalog

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47913000-47920800	Weak transcription	Right Atrium	heart
2	chr1:47918000-47919000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
3	chr1:47918000-47924800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:47918800-47919000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell

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