Variant report

Variant	rs4885655
Chromosome Location	chr13:80240964-80240965
allele	C/G
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	0.89[EUR][1000 genomes]
rs2208936	0.89[EUR][1000 genomes]
rs2208938	0.85[EUR][1000 genomes]
rs2208943	0.86[EUR][1000 genomes]
rs2329126	0.88[EUR][1000 genomes]
rs2876742	0.87[EUR][1000 genomes]
rs2876746	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2876747	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3920578	0.88[EUR][1000 genomes]
rs4141826	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4885647	0.88[EUR][1000 genomes]
rs4885649	0.88[EUR][1000 genomes]
rs4885652	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4885653	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6563129	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67012853	0.83[AMR][1000 genomes]
rs7319427	0.80[ASN][1000 genomes]
rs767778	0.88[EUR][1000 genomes]
rs7994255	0.88[EUR][1000 genomes]
rs7994620	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9318645	0.88[EUR][1000 genomes]
rs9318647	0.88[EUR][1000 genomes]
rs9318650	0.82[EUR][1000 genomes]
rs9318651	0.89[EUR][1000 genomes]
rs9530940	0.88[EUR][1000 genomes]
rs9530941	0.88[EUR][1000 genomes]
rs9530942	0.89[EUR][1000 genomes]
rs9530943	0.88[EUR][1000 genomes]
rs9530944	0.89[EUR][1000 genomes]
rs9545159	0.88[EUR][1000 genomes]
rs9545160	0.87[EUR][1000 genomes]
rs9545166	0.88[EUR][1000 genomes]
rs9565514	0.83[AFR][1000 genomes]
rs9565515	0.83[AFR][1000 genomes]
rs9574448	0.83[AFR][1000 genomes]
rs9574450	0.88[EUR][1000 genomes]
rs9574452	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9574455	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9593407	0.83[AFR][1000 genomes]
rs9601256	0.88[EUR][1000 genomes]
rs9601258	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9805769	0.89[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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80233200-80247400	Weak transcription	Left Ventricle	heart
2	chr13:80233400-80248800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:80233800-80241800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr13:80234000-80241600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:80238600-80247600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr13:80238600-80255000	Weak transcription	Psoas Muscle	Psoas
7	chr13:80239200-80244200	Weak transcription	Fetal Heart	heart

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