Variant report

Variant	rs4885653
Chromosome Location	chr13:80224421-80224422
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12430226	0.88[EUR][1000 genomes]
rs2181432	0.88[EUR][1000 genomes]
rs2208936	0.88[EUR][1000 genomes]
rs2208938	0.84[EUR][1000 genomes]
rs2208943	0.86[EUR][1000 genomes]
rs2329126	0.88[EUR][1000 genomes]
rs2876742	0.87[EUR][1000 genomes]
rs2876746	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2876747	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3920578	0.87[EUR][1000 genomes]
rs4141826	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4884135	0.85[AFR][1000 genomes]
rs4885647	0.88[EUR][1000 genomes]
rs4885649	0.88[EUR][1000 genomes]
rs4885652	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4885655	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6563129	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67012853	0.80[AMR][1000 genomes]
rs767778	0.88[EUR][1000 genomes]
rs7994255	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7994620	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9318645	0.87[EUR][1000 genomes]
rs9318647	0.88[EUR][1000 genomes]
rs9318650	0.82[EUR][1000 genomes]
rs9318651	0.88[EUR][1000 genomes]
rs9530940	0.87[EUR][1000 genomes]
rs9530941	0.87[EUR][1000 genomes]
rs9530942	0.88[EUR][1000 genomes]
rs9530943	0.88[EUR][1000 genomes]
rs9530944	0.88[EUR][1000 genomes]
rs9545159	0.88[EUR][1000 genomes]
rs9545160	0.87[EUR][1000 genomes]
rs9545166	0.88[EUR][1000 genomes]
rs9565514	0.93[AFR][1000 genomes]
rs9565515	0.97[AFR][1000 genomes]
rs9574448	0.96[AFR][1000 genomes]
rs9574450	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9574452	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9574455	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9593407	0.96[AFR][1000 genomes]
rs9601256	0.88[EUR][1000 genomes]
rs9601258	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9805769	0.88[EUR][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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80217800-80224800	Weak transcription	Fetal Heart	heart
2	chr13:80222000-80232600	Weak transcription	Fetal Muscle Leg	muscle
3	chr13:80222400-80232600	Weak transcription	Psoas Muscle	Psoas
4	chr13:80223200-80225000	Weak transcription	NHEK	skin
5	chr13:80223200-80232400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr13:80223200-80232400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr13:80223200-80232600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr13:80223600-80228600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:80224200-80231400	Weak transcription	HSMMtube	muscle

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