Variant report

Variant	rs2464527
Chromosome Location	chr4:89817450-89817451
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1246630	0.84[AMR][1000 genomes]
rs1246633	0.86[AMR][1000 genomes]
rs1272570	0.81[AMR][1000 genomes]
rs13106968	0.88[AMR][1000 genomes]
rs1458553	0.81[AMR][1000 genomes]
rs1458555	0.83[AMR][1000 genomes]
rs2446295	0.81[AMR][1000 genomes]
rs2446302	0.83[AMR][1000 genomes]
rs2609254	0.86[AMR][1000 genomes]
rs2609263	0.86[AMR][1000 genomes]
rs2704572	0.81[AMR][1000 genomes]
rs2704591	0.81[AMR][1000 genomes]
rs2704593	0.83[AMR][1000 genomes]
rs2704606	0.83[AMR][1000 genomes]
rs2869965	0.81[AMR][1000 genomes]
rs973680	0.84[AMR][1000 genomes]
rs993358	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009354	chr4:89725914-89985155	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv998651	chr4:89800245-89933445	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv537175	chr4:89800245-89933445	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv879532	chr4:89811195-89917135	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:89802200-89820600	Weak transcription	Aorta	Aorta
2	chr4:89802600-89825600	Weak transcription	Ovary	ovary
3	chr4:89805400-89817600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:89809200-89828800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:89813400-89821400	Weak transcription	Fetal Intestine Small	intestine
6	chr4:89815600-89818200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:89816000-89825600	Weak transcription	Placenta	Placenta
8	chr4:89816000-89829000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:89816600-89827400	Weak transcription	Fetal Kidney	kidney
10	chr4:89816800-89818400	Weak transcription	Fetal Lung	lung
11	chr4:89816800-89827800	Weak transcription	Fetal Brain Male	brain

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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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