Variant report

Variant	rs62215350
Chromosome Location	chr20:24643412-24643413
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs6049848	0.95[ASN][1000 genomes]
rs62215329	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62215348	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62215349	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62215351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62215352	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62215353	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62215354	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs729541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73100735	0.91[EUR][1000 genomes]
rs73100738	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73100740	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73100749	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73100765	1.00[ASN][1000 genomes]
rs73100766	0.95[ASN][1000 genomes]
rs73100768	0.95[ASN][1000 genomes]
rs73100772	0.85[ASN][1000 genomes]
rs73100774	0.95[ASN][1000 genomes]
rs73100778	0.95[ASN][1000 genomes]
rs73100782	0.95[ASN][1000 genomes]
rs73100786	0.95[ASN][1000 genomes]
rs73102709	0.95[ASN][1000 genomes]
rs73102712	0.90[ASN][1000 genomes]
rs73102716	0.95[ASN][1000 genomes]
rs73104749	0.95[ASN][1000 genomes]
rs73104753	0.95[ASN][1000 genomes]
rs73104759	0.95[ASN][1000 genomes]
rs73104760	0.95[ASN][1000 genomes]
rs73104763	0.95[ASN][1000 genomes]
rs73104764	0.95[ASN][1000 genomes]
rs73104766	0.95[ASN][1000 genomes]
rs73104772	0.95[ASN][1000 genomes]
rs73104779	0.95[ASN][1000 genomes]
rs73104785	0.95[ASN][1000 genomes]
rs73104800	0.95[ASN][1000 genomes]
rs73106703	0.95[ASN][1000 genomes]
rs735185	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73905423	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8114266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3332519	chr20:24535099-24815615	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1061412	chr20:24629468-24887869	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv544216	chr20:24629468-24887869	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv524920	chr20:24639916-24683554	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24634600-24648800	Weak transcription	Gastric	stomach
2	chr20:24639000-24650400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr20:24639200-24648600	Weak transcription	Spleen	Spleen
4	chr20:24640400-24646000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr20:24640800-24643600	Enhancers	Brain Hippocampus Middle	brain
6	chr20:24641200-24654000	Weak transcription	Aorta	Aorta
7	chr20:24641400-24645400	Weak transcription	Brain Anterior Caudate	brain
8	chr20:24641400-24649400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr20:24641600-24646200	Enhancers	Fetal Muscle Leg	muscle
10	chr20:24641800-24649800	Weak transcription	Right Ventricle	heart
11	chr20:24642800-24644400	Enhancers	HSMMtube	muscle
12	chr20:24643000-24643600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
13	chr20:24643000-24644800	Enhancers	HSMM	muscle
14	chr20:24643200-24643600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr20:24643200-24643600	Enhancers	NHLF	lung
16	chr20:24643200-24643800	Enhancers	Stomach Smooth Muscle	stomach
17	chr20:24643200-24644000	Enhancers	Brain Angular Gyrus	brain
18	chr20:24643200-24644200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr20:24643200-24644200	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr20:24643200-24644600	Enhancers	Brain Cingulate Gyrus	brain
21	chr20:24643200-24644600	Enhancers	Brain Substantia Nigra	brain
22	chr20:24643400-24643600	Enhancers	Fetal Brain Female	brain
23	chr20:24643400-24643800	Enhancers	Fetal Kidney	kidney
24	chr20:24643400-24643800	Flanking Active TSS	Fetal Muscle Trunk	muscle
25	chr20:24643400-24644000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr20:24643400-24644200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr20:24643400-24644200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
28	chr20:24643400-24644400	Bivalent Enhancer	Fetal Lung	lung
29	chr20:24643400-24649400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr20:24643400-24661400	Weak transcription	Right Atrium	heart

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