Variant report

Variant	rs58677448
Chromosome Location	chr1:226786738-226786739
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17520589	0.85[AMR][1000 genomes]
rs17520819	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17579954	0.85[AMR][1000 genomes]
rs17580122	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17580764	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55767921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56290706	0.83[EUR][1000 genomes]
rs60520072	0.85[AMR][1000 genomes]
rs60706522	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs708755	0.95[EUR][1000 genomes]
rs73098838	0.95[EUR][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	nsv470779	chr1:226778432-226833304	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv873234	chr1:226779449-226859676	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3437833	chr1:226780025-226810577	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226765000-226790000	Weak transcription	Right Atrium	heart
2	chr1:226774800-226790200	Weak transcription	Fetal Intestine Small	intestine
3	chr1:226778800-226790400	Weak transcription	Fetal Brain Female	brain
4	chr1:226784000-226790200	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:226784600-226787600	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:226784800-226790000	Weak transcription	Brain Substantia Nigra	brain
7	chr1:226785200-226790200	Weak transcription	Brain Anterior Caudate	brain
8	chr1:226785600-226787200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:226786000-226789600	Weak transcription	Brain Germinal Matrix	brain
10	chr1:226786200-226790000	Weak transcription	Fetal Thymus	thymus
11	chr1:226786400-226789600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:226786400-226790000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:226786600-226789200	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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