Variant report

Variant	rs72816629
Chromosome Location	chr5:178341880-178341881
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:178338284..178340822-chr5:178341370..178344365,2	K562	blood:

Variant related genes	Relation type
ENSG00000198939	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10035741	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10037614	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10039203	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10039702	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10041805	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10043597	0.86[EUR][1000 genomes]
rs10059618	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10059708	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10068330	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10068408	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10074505	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10223205	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12520154	0.85[ASN][1000 genomes]
rs12657785	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1963050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2411991	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61747996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6874421	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6877197	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72814700	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72814702	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72816603	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72816608	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72816609	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72816613	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72816625	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816634	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883218	chr5:178219855-178349391	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72816629	ZNF454	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178335600-178349000	ZNF genes & repeats	Liver	Liver
2	chr5:178335800-178342200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr5:178335800-178367000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr5:178340200-178342600	Weak transcription	Fetal Stomach	stomach
5	chr5:178340400-178342800	Weak transcription	Left Ventricle	heart
6	chr5:178340400-178344800	Weak transcription	Fetal Brain Male	brain
7	chr5:178340400-178345400	Weak transcription	Placenta	Placenta
8	chr5:178340600-178343000	Weak transcription	Brain Substantia Nigra	brain
9	chr5:178341600-178342000	ZNF genes & repeats	Right Ventricle	heart
10	chr5:178341600-178342000	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr5:178341600-178342200	ZNF genes & repeats	Brain Anterior Caudate	brain
12	chr5:178341600-178342200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
13	chr5:178341600-178342800	ZNF genes & repeats	Brain Germinal Matrix	brain
14	chr5:178341600-178343400	ZNF genes & repeats	Psoas Muscle	Psoas
15	chr5:178341600-178343800	ZNF genes & repeats	Aorta	Aorta
16	chr5:178341600-178345800	ZNF genes & repeats	Fetal Lung	lung
17	chr5:178341600-178345800	ZNF genes & repeats	Ovary	ovary
18	chr5:178341600-178347000	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr5:178341600-178347200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
20	chr5:178341600-178367000	ZNF genes & repeats	Fetal Brain Female	brain
21	chr5:178341800-178342000	ZNF genes & repeats	Brain Angular Gyrus	brain
22	chr5:178341800-178342000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:178341800-178342000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
24	chr5:178341800-178342200	ZNF genes & repeats	Fetal Kidney	kidney
25	chr5:178341800-178342200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
26	chr5:178341800-178342800	Strong transcription	Brain Cingulate Gyrus	brain
27	chr5:178341800-178343800	ZNF genes & repeats	Pancreas	Pancrea

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