Variant report

Variant	rs11168493
Chromosome Location	chr12:48646995-48646996
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48646721..48650282-chr12:48651087..48653951,3	K562	blood:

Extended variants
information (count: 108 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10082861	0.87[CEU][hapmap];0.85[JPT][hapmap]
rs1021313	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10219623	0.87[JPT][hapmap]
rs10431526	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10437919	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10437920	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10467101	0.88[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10875745	0.87[JPT][hapmap]
rs10875746	0.87[JPT][hapmap]
rs10875750	0.87[JPT][hapmap]
rs10875767	0.88[CHB][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap];0.88[ASN][1000 genomes]
rs10875768	0.86[ASN][1000 genomes]
rs10875769	0.85[ASN][1000 genomes]
rs10875770	0.88[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs10875772	0.88[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs10875777	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10875778	0.92[ASN][1000 genomes]
rs10875779	0.92[ASN][1000 genomes]
rs10875782	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10875792	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10875793	0.88[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10875799	0.83[ASN][1000 genomes]
rs11168403	0.87[JPT][hapmap]
rs11168413	0.87[JPT][hapmap]
rs11168414	0.87[JPT][hapmap]
rs11168418	0.87[JPT][hapmap]
rs11168420	0.87[JPT][hapmap]
rs11168421	0.87[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap]
rs11168425	0.87[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap]
rs11168427	0.87[JPT][hapmap]
rs11168433	0.87[JPT][hapmap]
rs11168450	0.87[JPT][hapmap]
rs11168459	0.88[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs11168483	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11168487	0.92[ASN][1000 genomes]
rs11168508	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11168510	0.96[ASN][1000 genomes]
rs11168514	0.95[ASN][1000 genomes]
rs11168516	0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11168520	0.82[ASN][1000 genomes]
rs11168536	0.83[ASN][1000 genomes]
rs12227601	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12297470	0.86[JPT][hapmap]
rs12300647	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12304476	0.86[JPT][hapmap]
rs12305511	0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs12305647	0.81[ASN][1000 genomes]
rs12306451	0.87[JPT][hapmap]
rs12310813	0.87[JPT][hapmap]
rs12312134	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs12313745	0.81[ASN][1000 genomes]
rs12317751	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12318705	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12322347	0.81[ASN][1000 genomes]
rs12322348	0.81[ASN][1000 genomes]
rs1471997	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17122666	0.87[JPT][hapmap]
rs17122812	0.89[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1859445	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs2012773	0.87[JPT][hapmap]
rs2054903	0.88[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs2054904	0.84[ASN][1000 genomes]
rs2107638	0.87[JPT][hapmap]
rs2171642	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2228500	0.87[JPT][hapmap]
rs2269933	0.83[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap]
rs2269935	0.87[JPT][hapmap]
rs2279464	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2409005	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2634675	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs2732439	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs2732465	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs2898065	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2898066	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3185921	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3751273	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3782910	0.87[JPT][hapmap]
rs4760619	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs4760622	0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs4760625	0.97[ASN][1000 genomes]
rs4760681	0.86[JPT][hapmap]
rs4760687	0.87[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap]
rs4760695	0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs4760696	0.87[JPT][hapmap]
rs4760697	0.87[JPT][hapmap]
rs4760699	0.90[ASN][1000 genomes]
rs61940962	0.88[ASN][1000 genomes]
rs61941003	0.92[ASN][1000 genomes]
rs61941006	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6580659	0.85[JPT][hapmap]
rs7135779	0.86[JPT][hapmap]
rs716553	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs725454	0.87[JPT][hapmap]
rs7297298	0.97[ASN][1000 genomes]
rs7302466	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7303055	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7486008	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7486424	0.88[CEU][hapmap];0.87[JPT][hapmap]
rs7975956	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8804	0.87[JPT][hapmap]
rs886588	0.87[JPT][hapmap]
rs9634261	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs989144	0.87[JPT][hapmap]

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	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv8971	chr12:48536526-48758501	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv34439	chr12:48541757-48779562	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	esv2757502	chr12:48547128-48779562	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11168493	RP1-228P16.1	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48645800-48647000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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