Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:47386562..47388237-chr4:47450427..47451934,2	K562	blood:
2	chr4:47385250..47388057-chr4:47402693..47405064,2	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10517184	0.86[JPT][hapmap]
rs10517185	0.86[JPT][hapmap]
rs10938482	0.86[JPT][hapmap]
rs11733050	0.86[JPT][hapmap]
rs11945405	1.00[JPT][hapmap]
rs12331254	0.86[JPT][hapmap]
rs17461863	0.86[JPT][hapmap]
rs17600442	0.85[JPT][hapmap]
rs17600511	0.86[JPT][hapmap]
rs17600596	0.88[JPT][hapmap]
rs17600651	0.88[JPT][hapmap]
rs17653449	0.82[JPT][hapmap]
rs17653516	0.88[JPT][hapmap]
rs4289418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4694846	0.86[JPT][hapmap]
rs4695220	0.86[JPT][hapmap]
rs4695226	0.86[JPT][hapmap]
rs6290	0.88[JPT][hapmap]
rs6814130	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs6817416	1.00[JPT][hapmap]
rs6830892	0.86[JPT][hapmap]
rs7439087	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs7677890	0.86[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998919	chr4:47207023-47476876	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4336201	GABRA2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47387000-47388000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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