Variant report

Variant	rs8181861
Chromosome Location	chr13:40370177-40370178
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs17591266	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3812882	0.87[JPT][hapmap]
rs3812883	0.87[JPT][hapmap]
rs3812884	0.87[JPT][hapmap]
rs3812885	0.87[JPT][hapmap]
rs3812886	0.87[JPT][hapmap]
rs3812887	0.87[JPT][hapmap]
rs3812888	0.87[JPT][hapmap]
rs4142370	0.87[JPT][hapmap]
rs4312180	0.83[JPT][hapmap]
rs4941936	0.95[JPT][hapmap]
rs4941937	0.86[JPT][hapmap]
rs4941938	0.86[JPT][hapmap]
rs4941939	0.83[JPT][hapmap]
rs4941941	0.83[JPT][hapmap]
rs4943686	0.87[JPT][hapmap]
rs7325068	0.91[CEU][hapmap];0.82[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap]
rs7325655	0.87[JPT][hapmap]
rs7327779	0.87[JPT][hapmap]
rs7332791	0.80[JPT][hapmap]
rs7334651	0.91[CEU][hapmap];0.95[JPT][hapmap]
rs7984113	0.87[JPT][hapmap]
rs9315720	0.87[JPT][hapmap]
rs9315725	0.82[JPT][hapmap]
rs9532408	0.86[JPT][hapmap]
rs9532411	0.85[JPT][hapmap]
rs9532412	0.87[JPT][hapmap]
rs9532420	0.83[JPT][hapmap]
rs9532432	0.81[AMR][1000 genomes]
rs9532436	1.00[CEU][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.82[MEX][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9532439	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548857	0.87[JPT][hapmap]
rs9548859	0.87[JPT][hapmap]
rs9548862	0.86[JPT][hapmap]
rs9548863	0.86[JPT][hapmap]
rs9548865	0.87[JPT][hapmap]
rs9548866	0.87[JPT][hapmap]
rs9548867	0.87[JPT][hapmap]
rs9548868	0.87[JPT][hapmap]
rs9548869	0.87[JPT][hapmap]
rs9548875	0.83[JPT][hapmap]
rs9548880	0.83[JPT][hapmap]
rs9548901	0.91[CEU][hapmap];0.87[JPT][hapmap]
rs9548916	0.90[CEU][hapmap]
rs9548917	0.91[CEU][hapmap];0.84[JPT][hapmap]
rs9548919	0.91[CEU][hapmap]
rs9548930	0.91[CEU][hapmap];0.82[CHD][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];0.81[TSI][hapmap]
rs9576881	0.87[JPT][hapmap]
rs9576882	0.87[JPT][hapmap]
rs9603617	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1054797	chr13:40198744-40618428	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
3	nsv541755	chr13:40198744-40618428	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
4	nsv832586	chr13:40222880-40379063	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1040458	chr13:40249387-40638129	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8181861	COG6	cis	Muscle Skeletal	GTEx
rs8181861	COG6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40364600-40377200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:40369000-40370200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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