Variant report

Variant	rs9593407
Chromosome Location	chr13:80215329-80215330
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs2146592	0.90[ASN][1000 genomes]
rs2146593	0.90[ASN][1000 genomes]
rs2876741	0.91[ASN][1000 genomes]
rs2876746	0.89[AFR][1000 genomes]
rs2876747	0.90[AFR][1000 genomes]
rs4141826	0.82[AFR][1000 genomes]
rs4884135	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4885651	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4885652	0.96[AFR][1000 genomes]
rs4885653	0.96[AFR][1000 genomes]
rs4885655	0.83[AFR][1000 genomes]
rs6563129	0.82[AFR][1000 genomes]
rs7329551	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7336082	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7989227	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7990151	0.88[ASN][1000 genomes]
rs7990179	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7994620	0.96[AFR][1000 genomes]
rs7997134	0.98[ASN][1000 genomes]
rs928640	0.90[ASN][1000 genomes]
rs9545149	0.87[ASN][1000 genomes]
rs9545151	0.90[ASN][1000 genomes]
rs9565512	0.99[ASN][1000 genomes]
rs9565513	0.99[ASN][1000 genomes]
rs9565514	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9565515	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9574441	0.81[ASN][1000 genomes]
rs9574445	0.99[ASN][1000 genomes]
rs9574448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9574452	0.96[AFR][1000 genomes]
rs9574455	0.82[AFR][1000 genomes]
rs9601251	0.92[ASN][1000 genomes]
rs9601252	0.92[ASN][1000 genomes]
rs9601258	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80205400-80221200	Weak transcription	HSMM	muscle
2	chr13:80206600-80216800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:80206600-80220000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr13:80212400-80217000	Weak transcription	Fetal Muscle Leg	muscle
5	chr13:80213200-80216600	Weak transcription	Fetal Heart	heart
6	chr13:80215000-80215400	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr13:80215200-80215400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr13:80215200-80220200	Weak transcription	Psoas Muscle	Psoas

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