Variant report

Variant	rs12221430
Chromosome Location	chr10:99061386-99061387
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:99059557..99062005-chr10:99076805..99079632,3	K562	blood:

Variant related genes	Relation type
ENSG00000165879	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10736115	0.84[EUR][1000 genomes]
rs10736116	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10748692	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10748694	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10786321	0.84[EUR][1000 genomes]
rs10786323	0.86[EUR][1000 genomes]
rs10786324	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10786325	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10786326	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10786327	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10786329	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10786330	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10786332	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10786333	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10786334	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10786335	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10882883	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10882884	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10882889	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10882890	0.86[EUR][1000 genomes]
rs10882891	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882894	0.84[EUR][1000 genomes]
rs10882897	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10882898	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10882899	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11189100	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11189120	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11189122	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11189127	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11189131	0.81[EUR][1000 genomes]
rs11189132	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11189137	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11189138	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12413688	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12571098	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1334892	0.85[EUR][1000 genomes]
rs1572437	0.84[EUR][1000 genomes]
rs1890966	0.87[ASN][1000 genomes]
rs3740512	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3740522	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3781373	0.85[EUR][1000 genomes]
rs4917766	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4919087	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4919089	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4919090	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4919091	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61863767	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6584116	0.81[EUR][1000 genomes]
rs7067835	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7072078	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7076523	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7078288	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7080275	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7901853	0.85[EUR][1000 genomes]
rs945187	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs945189	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532232	chr10:98360775-99141797	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1041614	chr10:98928281-99083056	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1045553	chr10:98944397-99122203	Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers 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 target site	27 gene(s)	inside rSNPs	diseases
4	nsv540750	chr10:98944397-99122203	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv831952	chr10:98998344-99145924	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv895914	chr10:99006083-99131676	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv7507	chr10:99031233-99070690	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99052400-99063800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:99052600-99061800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr10:99058600-99067000	Weak transcription	K562	blood
4	chr10:99061000-99062600	Enhancers	Liver	Liver
5	chr10:99061200-99062000	Enhancers	HepG2	liver

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