Variant report

Variant	rs513548
Chromosome Location	chr11:120847817-120847818
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10750179	0.83[ASN][1000 genomes]
rs10892648	0.89[MEX][hapmap]
rs11218069	0.89[MEX][hapmap]
rs11218070	0.89[MEX][hapmap]
rs11218071	0.89[MEX][hapmap]
rs11218072	0.89[MEX][hapmap]
rs11218094	0.91[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs1621211	0.83[ASN][1000 genomes]
rs2510639	0.82[ASN][1000 genomes]
rs3781816	0.89[MEX][hapmap]
rs478015	0.84[ASN][1000 genomes]
rs479160	0.91[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs4936566	0.89[MEX][hapmap]
rs4936568	0.84[MEX][hapmap]
rs524209	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs536333	0.84[ASN][1000 genomes]
rs536447	0.84[ASN][1000 genomes]
rs557501	0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs560092	0.84[ASN][1000 genomes]
rs565597	0.84[ASN][1000 genomes]
rs595851	0.84[ASN][1000 genomes]
rs596869	0.84[ASN][1000 genomes]
rs598582	0.84[ASN][1000 genomes]
rs601817	0.86[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.93[TSI][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs607800	0.81[ASN][1000 genomes]
rs608154	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs611065	0.84[ASN][1000 genomes]
rs646543	0.88[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs652418	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs670413	0.91[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs676426	0.83[ASN][1000 genomes]
rs7128009	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs732480	0.94[MEX][hapmap]
rs7939112	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7948885	0.83[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs513548	UPK2	cis	cerebellum	SCAN
rs513548	C2CD2L	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120833400-120856400	Weak transcription	Ovary	ovary
2	chr11:120836800-120856400	Weak transcription	Brain Anterior Caudate	brain
3	chr11:120846000-120849400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:120846000-120856000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:120846000-120856000	Weak transcription	Fetal Lung	lung
6	chr11:120846200-120848000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:120846600-120848200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:120847000-120848600	Enhancers	HSMMtube	muscle
9	chr11:120847200-120848800	Enhancers	Fetal Brain Male	brain
10	chr11:120847800-120848200	Flanking Active TSS	HSMM	muscle
11	chr11:120847800-120848400	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr11:120847800-120849800	Enhancers	Psoas Muscle	Psoas

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