Variant report

Variant	rs7605822
Chromosome Location	chr2:50142381-50142382
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs6711992	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6758544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7573928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7580867	1.00[AMR][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	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50140800-50143000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:50141000-50142400	Enhancers	NHEK	skin
3	chr2:50141000-50143000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:50141200-50142400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:50141600-50175400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:50141600-50187400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:50142000-50142600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:50142000-50151000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:50142200-50151000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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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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