Variant report

Variant	rs72788513
Chromosome Location	chr5:126697604-126697605
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11746512	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17165037	0.83[EUR][1000 genomes]
rs17165041	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17673147	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17673170	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17839696	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55918025	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56096254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56144110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786500	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788505	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1032587	chr5:126691103-126826978	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr5:126691000-126746000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:126692200-126704800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:126694400-126699000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:126694400-126702600	Weak transcription	Fetal Muscle Leg	muscle
5	chr5:126695400-126701200	Weak transcription	Brain Substantia Nigra	brain
6	chr5:126695400-126704400	Weak transcription	HSMMtube	muscle
7	chr5:126695600-126703400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr5:126695600-126703400	Weak transcription	HSMM	muscle
9	chr5:126695600-126703600	Weak transcription	Brain Anterior Caudate	brain
10	chr5:126695600-126705200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:126696400-126701000	Weak transcription	Brain Hippocampus Middle	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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