Variant report

Variant	rs554637
Chromosome Location	chr1:57581902-57581903
allele	A/G
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:21)

rs_ID	r²[population]
rs17453706	0.89[EUR][1000 genomes]
rs471704	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs479075	0.89[EUR][1000 genomes]
rs479780	0.89[EUR][1000 genomes]
rs486939	0.90[EUR][1000 genomes]
rs489049	0.90[EUR][1000 genomes]
rs499755	0.90[EUR][1000 genomes]
rs506063	0.90[EUR][1000 genomes]
rs507709	0.90[EUR][1000 genomes]
rs514594	0.90[EUR][1000 genomes]
rs522532	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs536250	0.89[EUR][1000 genomes]
rs552417	0.90[EUR][1000 genomes]
rs556329	0.90[EUR][1000 genomes]
rs560176	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs561503	0.90[EUR][1000 genomes]
rs572427	0.89[EUR][1000 genomes]
rs573395	0.90[EUR][1000 genomes]
rs573756	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6587763	0.89[EUR][1000 genomes]
rs692939	0.90[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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428752	chr1:57455083-57605082	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	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	chr1:57551400-57622000	Weak transcription	Fetal Intestine Small	intestine
2	chr1:57576200-57584800	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:57577200-57595600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:57578200-57589600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:57578600-57582400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:57579400-57583600	Enhancers	Fetal Heart	heart
7	chr1:57579400-57586400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:57579800-57582600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:57580400-57589200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:57581600-57582400	Enhancers	Fetal Brain Male	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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