Variant report

Variant	rs10957183
Chromosome Location	chr8:49551144-49551145
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10099531	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10957178	0.91[EUR][1000 genomes]
rs10957179	0.91[EUR][1000 genomes]
rs12542549	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12544004	0.93[EUR][1000 genomes]
rs12545705	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1473441	0.85[TSI][hapmap]
rs1809451	0.95[AFR][1000 genomes]
rs2128241	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62509321	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62509354	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7831800	0.81[AMR][1000 genomes]
rs900239	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs900240	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9650145	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9650146	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10957183	EFCAB1	cis	parietal	SCAN
rs10957183	EFCAB1	cis	Skin Sun Exposed Lower leg	GTEx
rs10957183	EFCAB1	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49534400-49556000	Weak transcription	Pancreas	Pancrea
2	chr8:49544400-49555400	Weak transcription	Osteobl	bone
3	chr8:49546600-49554400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:49547200-49551200	Weak transcription	Ovary	ovary
5	chr8:49547400-49553400	Weak transcription	Fetal Lung	lung
6	chr8:49548400-49551200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:49548600-49551400	Enhancers	HMEC	breast
8	chr8:49549400-49553400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:49550200-49555800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr8:49550400-49552000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:49550400-49552800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:49550400-49552800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:49550400-49554200	Weak transcription	Placenta	Placenta
14	chr8:49550400-49556000	Weak transcription	NH-A	brain
15	chr8:49550800-49551200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:49550800-49553000	Weak transcription	NHEK	skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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