Variant report

Variant	rs62373333
Chromosome Location	chr5:124631770-124631771
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1444651	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56144112	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62373330	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62373331	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62373332	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62373334	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62373335	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62373353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62373356	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62373357	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62373358	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62373359	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62374660	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62374662	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62374665	0.89[AMR][1000 genomes]
rs62374666	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72781173	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72781177	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72781179	0.91[EUR][1000 genomes]
rs72781189	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs751656	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882823	chr5:124569471-124639468	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1034696	chr5:124616571-124654771	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124627800-124633800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr5:124629000-124634000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:124629600-124634000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:124630400-124631800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr5:124630400-124634600	Weak transcription	Fetal Brain Male	brain
6	chr5:124630800-124633800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:124630800-124637200	Weak transcription	Fetal Brain Female	brain
8	chr5:124631000-124631800	Enhancers	HUVEC	blood vessel
9	chr5:124631000-124631800	Enhancers	Osteobl	bone
10	chr5:124631200-124631800	Enhancers	HMEC	breast
11	chr5:124631200-124631800	Enhancers	NH-A	brain
12	chr5:124631200-124632000	Enhancers	NHEK	skin
13	chr5:124631400-124631800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:124631400-124631800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:124631400-124631800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:124631400-124631800	Enhancers	NHDF-Ad	bronchial
17	chr5:124631400-124632400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:124631400-124633200	Enhancers	Spleen	Spleen
19	chr5:124631400-124639400	Weak transcription	Fetal Kidney	kidney
20	chr5:124631600-124632000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:124631600-124633400	Weak transcription	Fetal Heart	heart
22	chr5:124631600-124633800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:124631600-124634000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:124631600-124634000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:124631600-124634000	Weak transcription	HSMM	muscle

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