Variant report

Variant	rs9318647
Chromosome Location	chr13:80216846-80216847
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs12430226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1475797	1.00[YRI][hapmap]
rs1577416	1.00[YRI][hapmap]
rs17071512	1.00[YRI][hapmap]
rs17071545	1.00[YRI][hapmap]
rs1932197	0.85[ASN][1000 genomes]
rs2093620	0.83[ASN][1000 genomes]
rs2181432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2208936	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2208938	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2208943	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2329126	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2760105	1.00[YRI][hapmap]
rs2783119	1.00[YRI][hapmap]
rs2783130	0.82[ASN][1000 genomes]
rs2876742	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2876746	0.88[EUR][1000 genomes]
rs2876747	0.89[EUR][1000 genomes]
rs3920578	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4141825	0.84[ASN][1000 genomes]
rs4141826	0.88[EUR][1000 genomes]
rs4885647	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4885649	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4885652	0.88[EUR][1000 genomes]
rs4885653	0.88[EUR][1000 genomes]
rs4885655	0.88[EUR][1000 genomes]
rs6563121	0.82[ASN][1000 genomes]
rs6563129	0.86[EUR][1000 genomes]
rs7338530	1.00[YRI][hapmap]
rs767778	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7994255	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7994620	0.88[EUR][1000 genomes]
rs9318645	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9318650	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9318651	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9530940	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9530941	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9530942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9530943	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9530944	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9545154	0.88[ASN][1000 genomes]
rs9545155	0.88[ASN][1000 genomes]
rs9545158	0.89[ASN][1000 genomes]
rs9545159	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9545160	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9545166	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9574450	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9574452	0.88[EUR][1000 genomes]
rs9574455	0.88[EUR][1000 genomes]
rs9601256	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9601258	0.88[EUR][1000 genomes]
rs9805769	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80205400-80221200	Weak transcription	HSMM	muscle
2	chr13:80206600-80220000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr13:80212400-80217000	Weak transcription	Fetal Muscle Leg	muscle
4	chr13:80215200-80220200	Weak transcription	Psoas Muscle	Psoas
5	chr13:80216600-80217800	Enhancers	Fetal Heart	heart
6	chr13:80216800-80217200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr13:80216800-80217200	Enhancers	HUVEC	blood vessel
8	chr13:80216800-80217400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:80216800-80217600	Enhancers	Left Ventricle	heart
10	chr13:80216800-80217800	Enhancers	Esophagus	oesophagus

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