Variant report

Variant	rs580884
Chromosome Location	chr7:103371316-103371317
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:103354410..103357861-chr7:103367523..103371715,4	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10237247	0.80[ASN][1000 genomes]
rs10240733	0.81[ASN][1000 genomes]
rs10240865	0.89[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs10250273	0.88[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs10279900	0.89[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs10281066	0.89[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs17154372	0.89[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs17154406	0.81[ASN][1000 genomes]
rs17154435	0.80[ASN][1000 genomes]
rs17154438	0.89[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap];0.83[MEX][hapmap];0.81[ASN][1000 genomes]
rs17154462	0.80[ASN][1000 genomes]
rs17154464	0.89[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs17154820	0.85[ASN][1000 genomes]
rs17154829	0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1858782	0.89[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs2106173	0.89[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap];0.83[MEX][hapmap];0.81[ASN][1000 genomes]
rs2157748	0.89[CHB][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap];0.83[MEX][hapmap];0.81[ASN][1000 genomes]
rs2237632	0.89[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs2283023	0.89[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap];0.83[MEX][hapmap];0.80[ASN][1000 genomes]
rs2299363	0.81[ASN][1000 genomes]
rs2299364	0.81[ASN][1000 genomes]
rs2299365	0.81[ASN][1000 genomes]
rs2299367	0.89[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap];0.88[MEX][hapmap];0.81[ASN][1000 genomes]
rs2299368	0.89[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2299369	0.83[ASN][1000 genomes]
rs2299371	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2299373	0.84[ASN][1000 genomes]
rs3213611	0.88[ASN][1000 genomes]
rs3213612	0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3735631	0.85[JPT][hapmap]
rs3753113	0.88[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs3819455	0.83[ASN][1000 genomes]
rs56364137	0.85[ASN][1000 genomes]
rs581081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59196529	0.84[ASN][1000 genomes]
rs61283906	0.89[ASN][1000 genomes]
rs645260	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs729744	0.80[ASN][1000 genomes]
rs7794541	0.83[ASN][1000 genomes]
rs7799028	0.85[CHB][hapmap];0.92[CHD][hapmap];0.80[GIH][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs7803243	0.88[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv427799	chr7:103250733-103454202	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs580884	AP4M1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103355400-103374800	Weak transcription	HepG2	liver
2	chr7:103370400-103371400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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