Variant report

Variant	rs12216996
Chromosome Location	chr1:179477591-179477592
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:179477575..179481033-chr1:179483963..179487085,3	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10798686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs10913801	0.85[CHB][hapmap];0.88[CHD][hapmap]
rs12021876	0.82[ASN][1000 genomes]
rs12023357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12047808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs12216994	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]
rs13306729	1.00[JPT][hapmap]
rs1410586	0.91[CEU][hapmap];0.83[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1590786	0.85[CHB][hapmap]
rs16854035	1.00[JPT][hapmap]
rs16854064	1.00[JPT][hapmap];0.84[LWK][hapmap];0.97[MKK][hapmap]
rs16854186	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1887814	0.80[YRI][hapmap]
rs1928005	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2274624	0.84[CEU][hapmap]
rs3767841	0.86[ASW][hapmap];0.85[YRI][hapmap]
rs3818587	0.84[CEU][hapmap]
rs3898486	0.85[CHB][hapmap];0.88[CHD][hapmap]
rs4651038	0.85[CHB][hapmap];0.88[CHD][hapmap]
rs55998153	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs56392198	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs59377201	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs60323829	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6425558	0.83[CHD][hapmap]
rs6702905	0.85[CHB][hapmap]
rs73036755	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73051834	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7541905	0.83[CHD][hapmap]

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	nsv466217	chr1:179371973-179477921	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv548297	chr1:179371973-179477921	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1820823	chr1:179455645-179479803	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12216996	RABGAP1L	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179476600-179477800	Enhancers	Stomach Mucosa	stomach
2	chr1:179476800-179478200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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