Variant report

Variant	rs62140821
Chromosome Location	chr2:58707596-58707597
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10490245	0.84[ASN][1000 genomes]
rs41423548	0.85[ASN][1000 genomes]
rs57174143	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57335427	0.84[ASN][1000 genomes]
rs60975403	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61140557	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62140778	0.85[ASN][1000 genomes]
rs62140783	0.85[ASN][1000 genomes]
rs62140822	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62140829	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62140858	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62140859	0.83[AMR][1000 genomes]
rs72813949	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72813958	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755713	chr2:58653580-58782707	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1012213	chr2:58671881-58893730	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv535736	chr2:58671881-58893730	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv874203	chr2:58696996-58820417	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58704600-58709600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr2:58706800-58708000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:58706800-58708000	Enhancers	Fetal Brain Female	brain
4	chr2:58706800-58708800	Enhancers	Placenta	Placenta
5	chr2:58707000-58710400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:58707200-58707800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:58707200-58710400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:58707400-58708400	Weak transcription	Fetal Brain Male	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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