Variant report

Variant	rs71364555
Chromosome Location	chr18:44263444-44263445
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11872518	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11872859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11873719	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12953964	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12953965	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16939940	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16960373	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34198703	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4402660	0.81[EUR][1000 genomes]
rs71364554	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71364560	0.85[EUR][1000 genomes]
rs71364561	0.85[EUR][1000 genomes]
rs71364563	0.85[EUR][1000 genomes]
rs7232509	0.81[EUR][1000 genomes]
rs72915489	0.92[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	nsv428355	chr18:44160181-44406285	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	esv15009	chr18:44222960-44263857	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1065369	chr18:44224972-44263913	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1058904	chr18:44224972-44264578	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr18:44253000-44291400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr18:44253600-44269600	Weak transcription	Brain Angular Gyrus	brain
3	chr18:44254000-44269200	Weak transcription	Right Atrium	heart
4	chr18:44256600-44274000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr18:44258200-44280000	Weak transcription	HSMMtube	muscle
6	chr18:44260800-44286600	Weak transcription	Brain Germinal Matrix	brain
7	chr18:44261000-44271800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr18:44261000-44271800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr18:44261200-44269200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr18:44261400-44269200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr18:44261600-44270400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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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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