Variant report

Variant	rs2712787
Chromosome Location	chr11:74819166-74819167
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74818635..74821800-chr11:74824211..74827439,3	K562	blood:
2	chr11:74732304..74734096-chr11:74818351..74820380,2	K562	blood:
3	chr11:74702670..74704894-chr11:74816765..74819731,2	K562	blood:
4	chr11:74810124..74813291-chr11:74818623..74822146,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137491	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10899068	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11236316	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11236317	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11236322	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11236323	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11236325	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11236359	0.89[CEU][hapmap]
rs1893839	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2187435	0.94[CEU][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2712781	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2712789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2712790	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2712792	0.82[ASN][1000 genomes]
rs2712796	0.90[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs2712805	0.94[CEU][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2712807	0.81[ASN][1000 genomes]
rs2712819	0.89[CEU][hapmap]
rs2851064	0.94[CEU][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs2851074	0.88[CEU][hapmap]
rs2851085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851094	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2851096	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2851102	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2851108	0.89[ASN][1000 genomes]
rs3017932	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3018832	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34806493	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4146884	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7112183	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7122948	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs753171	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs949072	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9634028	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[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	esv3478707	chr11:74782633-74842791	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	esv3478718	chr11:74782633-74842791	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2712787	XRRA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74817000-74819400	Enhancers	K562	blood
2	chr11:74817600-74819800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr11:74817800-74819200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:74818200-74819200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:74818400-74819200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:74818600-74820600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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