Variant report

Variant	rs12244215
Chromosome Location	chr10:118261373-118261374
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10458761	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10458762	0.87[EUR][1000 genomes]
rs10458763	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10510020	0.89[EUR][1000 genomes]
rs10510022	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10510023	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10749219	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10787676	0.87[EUR][1000 genomes]
rs10787677	0.87[EUR][1000 genomes]
rs10787679	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10787680	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10787685	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10787706	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10787707	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10787708	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10885939	0.80[EUR][1000 genomes]
rs10885940	0.89[EUR][1000 genomes]
rs10885941	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10885964	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10885965	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10885981	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11197694	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11197707	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11197711	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11197712	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11197728	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11197729	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11525278	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11525290	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11812945	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11813385	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11815357	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11817431	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11817441	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11817470	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12217917	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12220096	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12221345	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12244390	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12264355	0.95[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12761687	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12767361	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17094828	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17094927	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2420285	0.87[EUR][1000 genomes]
rs2420293	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2420294	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2420295	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2420296	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2420297	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2420298	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2420299	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2901107	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4357611	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4454634	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4491137	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4529824	0.87[EUR][1000 genomes]
rs4751597	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4751598	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4751599	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4751600	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4751601	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4751975	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4751982	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55989001	0.93[ASN][1000 genomes]
rs56755358	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58380571	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58623886	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58834459	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59690687	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59775092	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6585400	0.87[EUR][1000 genomes]
rs6585410	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66492245	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7070270	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7081675	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7088387	0.89[EUR][1000 genomes]
rs7094130	0.83[ASN][1000 genomes]
rs7097727	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7097841	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7098296	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72823429	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7894218	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7894682	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7898331	0.87[EUR][1000 genomes]
rs7906587	0.89[EUR][1000 genomes]
rs7910824	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7914091	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7916123	0.89[EUR][1000 genomes]
rs7922996	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7923127	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9943371	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	nsv832001	chr10:118138370-118315059	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3415357	chr10:118254861-118383651	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2754784	chr10:118255010-118284010	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118258800-118262400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr10:118261000-118261400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr10:118261200-118261400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell

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