Variant report

Variant	rs6592145
Chromosome Location	chr11:83536043-83536044
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1113082	0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11233755	0.88[CEU][hapmap];0.83[CHB][hapmap];0.85[ASN][1000 genomes]
rs1155448	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11820522	0.91[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12794931	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1400310	0.84[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1451393	0.83[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap]
rs1516617	0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs1516618	0.83[CHB][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.86[ASN][1000 genomes]
rs1516622	0.84[CEU][hapmap];0.87[CHB][hapmap];0.89[CHD][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1516623	0.92[CEU][hapmap];0.87[CHB][hapmap];0.89[CHD][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1961555	0.81[EUR][1000 genomes]
rs2040310	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs2040311	0.81[EUR][1000 genomes]
rs2040312	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs3851171	0.81[ASN][1000 genomes]
rs4117186	0.81[CEU][hapmap];0.91[MEX][hapmap]
rs4362168	0.82[JPT][hapmap]
rs4396309	0.82[CHB][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap]
rs4480568	0.85[CEU][hapmap];0.90[ASN][1000 genomes]
rs6592143	0.83[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6592144	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6592148	0.83[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs7122007	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs7124506	0.84[CEU][hapmap]
rs7130803	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7941665	0.88[CEU][hapmap];0.83[CHB][hapmap];0.88[CHD][hapmap];0.91[MEX][hapmap];0.86[ASN][1000 genomes]
rs7946494	0.88[CEU][hapmap];0.95[MEX][hapmap];0.80[EUR][1000 genomes]

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	esv14634	chr11:83532806-83538775	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6592145	ABCB8	trans	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83527800-83539200	Weak transcription	Brain Angular Gyrus	brain
2	chr11:83529800-83537800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr11:83531000-83536800	Weak transcription	Brain Substantia Nigra	brain
4	chr11:83535000-83537800	Weak transcription	NH-A	brain
5	chr11:83535000-83538800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:83535000-83546600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:83535200-83536600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:83535200-83536600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:83535200-83537200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:83535400-83539000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr11:83535600-83538800	Weak transcription	Brain Hippocampus Middle	brain

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