Variant report

Variant	rs7994620
Chromosome Location	chr13:80220015-80220016
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

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	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2876747	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3920578	0.87[EUR][1000 genomes]
rs4141826	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4884135	0.85[AFR][1000 genomes]
rs4885647	0.88[EUR][1000 genomes]
rs4885649	0.88[EUR][1000 genomes]
rs4885652	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4885653	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4885655	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6563129	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7319427	0.81[ASN][1000 genomes]
rs767778	0.88[EUR][1000 genomes]
rs7994255	0.85[AMR][1000 genomes];0.89[EUR][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]
rs9545146	0.80[ASN][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	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9574452	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9574455	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9593407	0.96[AFR][1000 genomes]
rs9601248	0.80[ASN][1000 genomes]
rs9601256	0.88[EUR][1000 genomes]
rs9601258	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80205400-80221200	Weak transcription	HSMM	muscle
2	chr13:80215200-80220200	Weak transcription	Psoas Muscle	Psoas
3	chr13:80217200-80221000	Weak transcription	HUVEC	blood vessel
4	chr13:80217800-80224800	Weak transcription	Fetal Heart	heart
5	chr13:80219000-80223200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr13:80219600-80221400	Enhancers	Fetal Muscle Leg	muscle
7	chr13:80219600-80221600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr13:80219800-80223200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr13:80220000-80220200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:80220000-80221400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr13:80220000-80223200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr13:80220000-80223600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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