Variant report

Variant	rs62445933
Chromosome Location	chr17:66976084-66976085
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10950883	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1128250	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12055905	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12055908	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12539984	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12673256	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1919906	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4473920	0.81[AMR][1000 genomes]
rs55658106	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57033293	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57082026	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59258063	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62445924	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62445926	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62445928	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6959493	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6959806	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6963571	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6978094	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7798564	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7807924	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv908700	chr17:66885526-66985992	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv908701	chr17:66888346-66978319	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv1849165	chr17:66899261-66978319	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv908703	chr17:66904001-66978319	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62445933	CDCA7L	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66965600-66977600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr17:66965600-66980200	Weak transcription	Brain Anterior Caudate	brain
3	chr17:66965600-66986000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr17:66966200-66977200	Weak transcription	Fetal Muscle Leg	muscle
5	chr17:66968400-66977200	Weak transcription	NHDF-Ad	bronchial
6	chr17:66969200-66982800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr17:66969600-66977200	Weak transcription	HepG2	liver
8	chr17:66970800-66984000	Weak transcription	Spleen	Spleen
9	chr17:66971000-66987800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr17:66972400-66977400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr17:66972600-66981600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr17:66972800-66977400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr17:66973600-66980000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr17:66974000-66977000	Weak transcription	Adipose Nuclei	Adipose
15	chr17:66974000-66977200	Weak transcription	Fetal Lung	lung
16	chr17:66974000-66977200	Weak transcription	Ovary	ovary
17	chr17:66974000-66977200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr17:66974000-66977400	Weak transcription	Liver	Liver
19	chr17:66974000-66977600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr17:66974200-66976600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr17:66974200-66977200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr17:66974800-66977200	Weak transcription	Pancreas	Pancrea
23	chr17:66975600-66977200	Weak transcription	Brain Substantia Nigra	brain

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