Variant report

Variant	rs62124616
Chromosome Location	chr2:20591414-20591415
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000143878	Chromatin interaction
ENSG00000055917	Chromatin interaction
ENSG00000115884	Chromatin interaction
ENSG00000252216	Chromatin interaction
ENSG00000232800	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10514649	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55853919	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56406039	0.92[ASN][1000 genomes]
rs62124614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62124615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][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	nsv873716	chr2:20572094-20621404	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv581165	chr2:20581058-20616990	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20581600-20601000	Weak transcription	Right Atrium	heart
2	chr2:20585800-20593800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:20586600-20592000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:20587800-20591600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:20589800-20592600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:20590000-20592000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:20590400-20592400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:20590600-20592000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:20590800-20595600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:20591000-20593600	Weak transcription	Fetal Brain Male	brain
11	chr2:20591400-20592400	Enhancers	NHEK	skin
12	chr2:20591400-20592600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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Input of quick search could be:

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

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