Variant report

Variant	rs1213956
Chromosome Location	chr2:124806439-124806440
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	chr2:124804089..124806526-chr2:124808703..124810618,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1213938	0.96[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap]
rs1213942	0.96[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap]
rs1213945	0.96[CEU][hapmap];0.93[CHB][hapmap];0.92[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];0.92[TSI][hapmap]
rs1213946	0.96[CEU][hapmap];0.93[CHB][hapmap];0.92[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap]
rs1213948	0.96[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap]
rs1213950	0.89[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];0.92[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1213952	0.90[MKK][hapmap]
rs1213958	0.96[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1213962	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1228168	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12711664	0.82[CEU][hapmap];0.85[MEX][hapmap]
rs1347876	0.80[CEU][hapmap];0.86[GIH][hapmap];0.89[MEX][hapmap]
rs17010766	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17010827	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17010876	0.86[CHB][hapmap];0.84[GIH][hapmap]
rs17278676	0.89[ASW][hapmap];0.86[CHB][hapmap];0.89[GIH][hapmap];0.89[MEX][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17391285	0.81[GIH][hapmap]
rs1816698	0.89[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];0.89[TSI][hapmap]
rs1898788	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2439003	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7567584	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs868995	0.86[CHB][hapmap];0.81[GIH][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	nsv531408	chr2:124727329-125011247	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats	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
rs1213956	PDGFA	trans	lymphoblastoid	seeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:124803400-124807400	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr2:124804400-124806600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:124804600-124807000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:124804600-124807600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr2:124805000-124806800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:124805000-124807200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:124805600-124806600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:124805600-124806600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:124805600-124806800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:124805600-124810000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:124805800-124806600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:124806400-124807000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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