Variant report

Variant	rs1026448
Chromosome Location	chr5:124829372-124829373
allele	G/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]
rs11742189	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13175820	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13186218	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13340392	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17152867	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17152869	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2061328	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67258935	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6880987	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[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	nsv1030992	chr5:124708549-125391503	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv537892	chr5:124708549-125391503	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv882824	chr5:124789500-124875058	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr5:124822800-124833800	Weak transcription	Fetal Kidney	kidney
2	chr5:124823400-124832000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:124823400-124860400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:124825200-124833000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr5:124827800-124843600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:124828000-124837000	Weak transcription	HSMM	muscle
7	chr5:124828200-124835600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:124828400-124831600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:124828400-124831800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:124828600-124832000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:124828800-124829600	ZNF genes & repeats	Liver	Liver
12	chr5:124829000-124829600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr5:124829000-124833000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr5:124829000-124833000	Weak transcription	Brain Hippocampus Middle	brain
15	chr5:124829000-124833200	Weak transcription	Aorta	Aorta
16	chr5:124829000-124835600	Weak transcription	HSMMtube	muscle

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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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