Variant report

Variant	rs34397458
Chromosome Location	chr5:57150265-57150266
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12519846	0.90[EUR][1000 genomes]
rs12654378	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16887464	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16887469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1821211	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1835873	0.86[ASN][1000 genomes]
rs1835875	0.85[ASN][1000 genomes]
rs2408855	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34152283	0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34711481	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35483666	0.92[EUR][1000 genomes]
rs6868222	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6892809	0.90[EUR][1000 genomes]
rs7701201	0.83[ASN][1000 genomes]
rs7716711	0.92[AFR][1000 genomes]
rs7717208	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7721249	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7722730	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs854034	0.85[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	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830310	chr5:56989346-57176006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2763454	chr5:57006531-57161140	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57138800-57151800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:57146600-57152600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:57147800-57151400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:57148000-57151600	Weak transcription	NHEK	skin
5	chr5:57149200-57150400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:57149800-57150600	Enhancers	Fetal Heart	heart
7	chr5:57150000-57150400	Enhancers	Brain Germinal Matrix	brain
8	chr5:57150000-57150600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:57150200-57150600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:57150200-57150600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:57150200-57150600	Enhancers	Adipose Nuclei	Adipose
12	chr5:57150200-57151000	Enhancers	Left Ventricle	heart
13	chr5:57150200-57151000	Enhancers	Right Atrium	heart
14	chr5:57150200-57151000	Enhancers	Right Ventricle	heart
15	chr5:57150200-57151200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr5:57150200-57152000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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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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