Variant report

Variant	rs10805686
Chromosome Location	chr5:44662128-44662129
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1048758	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs1061310	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs10805685	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10941677	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11741772	0.80[CHB][hapmap];0.86[JPT][hapmap]
rs11746506	0.81[JPT][hapmap]
rs11949847	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs12188871	0.82[CHB][hapmap]
rs12516900	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12522626	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12651949	0.83[JPT][hapmap]
rs13155698	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs13159598	0.82[JPT][hapmap];0.82[TSI][hapmap]
rs13174122	0.82[JPT][hapmap]
rs13177711	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs13183209	0.81[CHD][hapmap]
rs13189120	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs1371025	0.83[CHD][hapmap];0.86[JPT][hapmap]
rs1438819	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs1438820	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs1438827	0.82[CHB][hapmap];0.81[CHD][hapmap];0.87[JPT][hapmap]
rs1866406	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs2013513	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2218080	0.92[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.84[TSI][hapmap]
rs2218081	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap]
rs36068815	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3761648	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs3761650	0.82[CHB][hapmap];0.81[CHD][hapmap];0.87[JPT][hapmap]
rs4321755	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4415084	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4415085	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4457089	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs4463188	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4479849	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4492118	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4571480	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4571481	0.84[EUR][1000 genomes]
rs4613718	0.94[ASN][1000 genomes]
rs66996829	0.85[EUR][1000 genomes]
rs6868232	0.86[JPT][hapmap]
rs6872254	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs6890556	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6896350	0.81[CHD][hapmap];0.86[JPT][hapmap]
rs714130	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs727305	0.82[CHB][hapmap]
rs7701466	0.95[EUR][1000 genomes]
rs7716571	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7717459	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs7720551	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7720787	0.82[CHB][hapmap];0.81[CHD][hapmap];0.87[JPT][hapmap];0.82[TSI][hapmap]
rs7723539	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7735881	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs920329	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap]
rs9637783	0.81[CHD][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830278	chr5:44540863-44713312	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv537742	chr5:44620084-44664039	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv880457	chr5:44632008-44800665	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10805686	LOC647121	Cis_chr	lymphoblastoid	RTeQTL
rs10805686	MRPS30	cis	cerebellum	SCAN
rs10805686	RP11-53O19.3	cis	Nerve Tibial	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44657800-44662200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:44661000-44665400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:44662000-44662200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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