Variant report

Variant	rs10108023
Chromosome Location	chr8:49717484-49717485
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	chr8:49711422..49713759-chr8:49716191..49717743,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10090819	0.89[JPT][hapmap];0.86[MEX][hapmap];0.81[TSI][hapmap]
rs10092718	0.85[CEU][hapmap];0.81[CHB][hapmap]
rs10097910	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs10101066	0.83[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap]
rs10111821	0.88[JPT][hapmap]
rs1126259	0.83[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap]
rs12155607	0.85[CHB][hapmap]
rs12542203	0.80[ASN][1000 genomes]
rs12548278	0.83[ASW][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.83[MEX][hapmap];0.88[MKK][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12550270	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13271216	0.82[ASN][1000 genomes]
rs13276316	0.94[JPT][hapmap]
rs1482261	1.00[ASW][hapmap];0.84[CEU][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16938731	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2891648	1.00[ASW][hapmap];0.84[CEU][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4873285	0.83[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap]
rs4873288	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs4873289	0.81[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];0.83[MEX][hapmap];0.82[AMR][1000 genomes]
rs6472038	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6984858	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs6990865	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs7825339	0.91[EUR][1000 genomes]
rs7835152	0.88[CEU][hapmap];0.83[JPT][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs900238	0.94[JPT][hapmap];0.82[MEX][hapmap]
rs9298058	0.83[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap]
rs966703	0.83[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10108023	EFCAB1	cis	Esophagus Mucosa	GTEx
rs10108023	EFCAB1	cis	parietal	SCAN
rs10108023	EFCAB1	cis	cerebellum	SCAN
rs10108023	EFCAB1	cis	Nerve Tibial	GTEx
rs10108023	C8orf22	cis	cerebellum	SCAN
rs10108023	EFCAB1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49716000-49718000	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:49716000-49718200	Weak transcription	Fetal Lung	lung
3	chr8:49716600-49718200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:49716800-49717600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:49716800-49718000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:49716800-49718400	Enhancers	HMEC	breast
7	chr8:49717200-49717600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:49717200-49718200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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