Variant report

Variant	rs11992055
Chromosome Location	chr8:49567832-49567833
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:49565766..49568245-chr8:49569048..49571269,2	MCF-7	breast:
2	chr8:49566599..49568855-chr8:49570957..49573457,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253892	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10086031	1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs10086847	0.85[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes]
rs10089017	0.85[CHB][hapmap];0.85[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs10094884	0.85[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes]
rs10098811	1.00[MEX][hapmap];0.88[AMR][1000 genomes]
rs10107998	0.85[CHB][hapmap];0.85[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs10429408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10504066	0.85[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes]
rs10957191	0.89[AMR][1000 genomes]
rs11994273	0.89[AMR][1000 genomes]
rs12549717	0.85[CHB][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes]
rs13248205	1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs13251674	1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs13257444	0.89[AMR][1000 genomes]
rs13275840	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs13278011	0.85[CHB][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes]
rs13439150	0.89[JPT][hapmap];0.86[AMR][1000 genomes]
rs1482264	0.85[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes]
rs16938259	0.89[AMR][1000 genomes]
rs16938260	0.89[AMR][1000 genomes]
rs16938290	0.85[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes]
rs16938363	0.89[AMR][1000 genomes]
rs2046236	0.85[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes]
rs2170491	0.85[AMR][1000 genomes]
rs28496614	0.88[AMR][1000 genomes]
rs33997479	0.89[AMR][1000 genomes]
rs34036465	0.88[AMR][1000 genomes]
rs34345631	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35116039	0.88[AMR][1000 genomes]
rs35306055	0.89[AMR][1000 genomes]
rs35379802	0.89[AMR][1000 genomes]
rs35545096	0.89[AMR][1000 genomes]
rs35564937	0.86[AMR][1000 genomes]
rs36071901	0.89[AMR][1000 genomes]
rs4873281	0.88[AMR][1000 genomes]
rs4873282	0.88[AMR][1000 genomes]
rs4873283	0.86[AMR][1000 genomes]
rs4873284	0.86[AMR][1000 genomes]
rs6988001	0.85[CHB][hapmap];0.85[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs6989273	0.85[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes]
rs71511941	0.89[AMR][1000 genomes]
rs745488	0.86[AMR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11992055	EFCAB1	cis	cerebellum	SCAN
rs11992055	EFCAB1	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49563000-49569400	Weak transcription	Spleen	Spleen
2	chr8:49563200-49572800	Weak transcription	Pancreas	Pancrea
3	chr8:49564400-49571200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:49565000-49570200	Weak transcription	Aorta	Aorta
5	chr8:49565800-49568800	Weak transcription	Left Ventricle	heart
6	chr8:49566000-49568200	Enhancers	Fetal Lung	lung
7	chr8:49566600-49568600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr8:49566800-49568400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr8:49567000-49568400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:49567000-49568400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr8:49567400-49568800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:49567400-49575800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:49567600-49569000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:49567600-49569200	Weak transcription	Fetal Stomach	stomach
15	chr8:49567800-49569600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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