Variant report

Variant	rs4672422
Chromosome Location	chr2:53670244-53670245
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10175727	1.00[ASN][1000 genomes]
rs10176112	1.00[ASN][1000 genomes]
rs10187264	1.00[ASN][1000 genomes]
rs13002734	1.00[ASN][1000 genomes]
rs13386161	1.00[ASN][1000 genomes]
rs1402902	1.00[ASN][1000 genomes]
rs1521940	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1521943	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17044942	1.00[ASN][1000 genomes]
rs17044948	1.00[ASN][1000 genomes]
rs1874057	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35129126	1.00[ASN][1000 genomes]
rs4671436	1.00[ASN][1000 genomes]
rs56148675	1.00[ASN][1000 genomes]
rs6726361	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6740206	1.00[ASN][1000 genomes]
rs6746638	1.00[ASN][1000 genomes]
rs73934923	1.00[ASN][1000 genomes]
rs741530	1.00[ASN][1000 genomes]
rs7570353	1.00[ASN][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	nsv1002145	chr2:53387912-53832213	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv535718	chr2:53387912-53832213	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv997401	chr2:53515629-53863347	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3383918	chr2:53585059-53710179	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv984438	chr2:53649278-53685651	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 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	chr2:53665600-53672800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:53665800-53672800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:53666000-53671400	Weak transcription	Hela-S3	cervix
4	chr2:53667800-53675000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:53669000-53670600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr2:53669600-53679800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:53670000-53670400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr2:53670000-53672200	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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