Variant report

Variant	rs1848739
Chromosome Location	chr2:167487411-167487412
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10803812	1.00[AMR][1000 genomes]
rs11685647	1.00[AMR][1000 genomes]
rs12692812	1.00[AMR][1000 genomes]
rs16852636	1.00[AMR][1000 genomes]
rs6757291	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73970085	1.00[AMR][1000 genomes]
rs73973428	1.00[AMR][1000 genomes]
rs7564582	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532474	chr2:166993501-167548531	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv529384	chr2:167143465-167958752	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2752480	chr2:167163493-167567493	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr2:167484800-167488200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:167485600-167489000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:167485800-167488000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:167485800-167488000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:167485800-167489000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:167485800-167489200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:167486000-167489200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:167487200-167487600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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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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