Variant report

Variant	rs60407730
Chromosome Location	chr13:80222407-80222408
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs12583029	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12583361	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12853669	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12872859	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12873323	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12873970	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12874186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17071691	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17071740	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17071744	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17071769	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1998452	0.87[AFR][1000 genomes]
rs2208937	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2329127	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2876745	0.84[AFR][1000 genomes]
rs28882153	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34574726	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34629137	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34757198	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34993149	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4335681	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4506784	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4597201	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55902954	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58360508	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6563120	0.90[EUR][1000 genomes]
rs6563123	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6563124	0.92[AFR][1000 genomes]
rs6563128	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6563130	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71436528	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71436529	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7324718	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7324768	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7329850	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7330910	0.86[AFR][1000 genomes]
rs7333099	0.96[AFR][1000 genomes]
rs7333290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7335083	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7983451	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7983467	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7985510	0.87[AFR][1000 genomes]
rs7987038	0.83[AFR][1000 genomes]
rs7999478	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8001082	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9318646	0.84[AFR][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	nsv916983	chr13:80065879-80249702	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1041994	chr13:80123596-80247708	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv900588	chr13:80216846-80421340	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80217800-80224800	Weak transcription	Fetal Heart	heart
2	chr13:80219000-80223200	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr13:80219800-80223200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr13:80220000-80223200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr13:80220000-80223600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:80220200-80223200	Enhancers	HMEC	breast
7	chr13:80220400-80222800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr13:80221000-80222600	Enhancers	HUVEC	blood vessel
9	chr13:80221000-80223000	Enhancers	HSMMtube	muscle
10	chr13:80222000-80232600	Weak transcription	Fetal Muscle Leg	muscle
11	chr13:80222200-80222600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr13:80222400-80223000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr13:80222400-80223200	Enhancers	NHEK	skin
14	chr13:80222400-80232600	Weak transcription	Psoas Muscle	Psoas

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