Variant report

Variant	rs56087520
Chromosome Location	chr2:190375222-190375223
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55979997	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56207532	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56941749	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57804388	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59752566	1.00[AMR][1000 genomes]
rs60339626	0.81[AFR][1000 genomes]
rs73978670	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978671	0.89[AFR][1000 genomes]
rs73978672	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978695	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978696	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978697	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978698	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978699	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978700	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978701	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978702	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980203	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980204	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980205	0.85[AFR][1000 genomes];1.00[AMR][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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv584062	chr2:190272195-190376493	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	esv3439566	chr2:190364328-190376661	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190366000-190377600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr2:190367000-190378400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:190371400-190378600	Weak transcription	Psoas Muscle	Psoas
4	chr2:190371600-190378000	Weak transcription	Ovary	ovary
5	chr2:190372000-190376400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr2:190372800-190376000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:190374000-190375800	ZNF genes & repeats	Fetal Intestine Small	intestine
8	chr2:190374400-190375600	Enhancers	Stomach Mucosa	stomach
9	chr2:190374800-190376200	Enhancers	HepG2	liver
10	chr2:190375200-190376600	Enhancers	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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