Variant report

Variant	rs61140557
Chromosome Location	chr2:58800567-58800568
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs57174143	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60975403	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62140821	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62140822	0.83[AMR][1000 genomes]
rs62140829	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62140858	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62140859	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72813949	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72813958	0.87[EUR][1000 genomes];0.84[ASN][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	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
2	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
3	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58796000-58800600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:58797400-58802200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:58797600-58802000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:58797600-58802200	Weak transcription	HMEC	breast
5	chr2:58797600-58802600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:58798400-58800600	Enhancers	Brain Germinal Matrix	brain
7	chr2:58798800-58801800	Weak transcription	HUVEC	blood vessel
8	chr2:58799200-58800600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:58800000-58800600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:58800000-58801400	Enhancers	Fetal Brain Male	brain
11	chr2:58800400-58800600	Enhancers	Primary hematopoietic stem cells	blood
12	chr2:58800400-58802400	Weak transcription	Fetal Brain Female	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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