Variant report

Variant	rs9965993
Chromosome Location	chr18:44274527-44274528
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs28386909	1.00[EUR][1000 genomes]
rs28461406	1.00[EUR][1000 genomes]
rs28502205	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28527202	1.00[EUR][1000 genomes]
rs28722950	1.00[EUR][1000 genomes]
rs948568	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9961814	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9966445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9966652	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 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	chr18:44258200-44280000	Weak transcription	HSMMtube	muscle
3	chr18:44260800-44286600	Weak transcription	Brain Germinal Matrix	brain
4	chr18:44269200-44276000	Weak transcription	Fetal Muscle Leg	muscle
5	chr18:44272400-44275800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr18:44273200-44288000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:44274000-44274600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr18:44274000-44274600	Enhancers	Psoas Muscle	Psoas
9	chr18:44274200-44275600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr18:44274400-44274600	Enhancers	Left Ventricle	heart
11	chr18:44274400-44274600	Enhancers	Skeletal Muscle Male	skeletal 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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