Variant report

Variant	rs62295506
Chromosome Location	chr4:21471923-21471924
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16871093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58946492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62295495	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62295503	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62295505	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62295507	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62301284	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73249589	1.00[AMR][1000 genomes];0.98[EUR][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	nsv1013365	chr4:20834054-21609078	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1014062	chr4:21270358-21479027	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
3	nsv829879	chr4:21418568-21611002	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv998481	chr4:21421945-21608805	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv593804	chr4:21469139-21477084	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21470800-21472800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:21470800-21472800	Enhancers	Brain Germinal Matrix	brain
3	chr4:21471000-21472000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:21471400-21472200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:21471400-21472400	Enhancers	HSMM	muscle
6	chr4:21471400-21472600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr4:21471400-21472600	Enhancers	HUVEC	blood vessel
8	chr4:21471400-21472800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:21471600-21472000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:21471600-21472200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:21471600-21472400	Enhancers	HSMMtube	muscle
12	chr4:21471600-21472600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:21471600-21472600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr4:21471600-21472600	Enhancers	HMEC	breast
15	chr4:21471600-21472600	Enhancers	NH-A	brain
16	chr4:21471600-21472600	Enhancers	NHEK	skin
17	chr4:21471600-21472800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:21471800-21472200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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