Variant report

Variant	rs12652159
Chromosome Location	chr5:8058620-8058621
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs58037839	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72727788	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72727801	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7726824	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs876712	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs905514	0.86[EUR][1000 genomes];0.87[ASN][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	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv597005	chr5:7860404-8093077	Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1020991	chr5:8014412-8129558	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8056400-8060800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr5:8056600-8059200	Enhancers	Ovary	ovary
3	chr5:8057600-8059000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr5:8057600-8059000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr5:8057600-8059400	Enhancers	Fetal Muscle Leg	muscle
6	chr5:8057800-8059200	Enhancers	Fetal Muscle Trunk	muscle
7	chr5:8058000-8059200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:8058200-8059200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:8058200-8060800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:8058200-8061800	Weak transcription	Spleen	Spleen
11	chr5:8058400-8059000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:8058400-8060200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:8058400-8060600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:8058400-8060800	Weak transcription	Brain Germinal Matrix	brain
15	chr5:8058400-8062000	Weak transcription	H1 Derived Neuronal Progenitor 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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