Variant report

Variant	rs17134846
Chromosome Location	chr5:111989119-111989120
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10066992	0.86[AFR][1000 genomes]
rs10478096	0.86[AFR][1000 genomes]
rs17134860	1.00[AMR][1000 genomes]
rs17134884	1.00[AMR][1000 genomes]
rs17134956	1.00[AMR][1000 genomes]
rs17134989	1.00[AMR][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	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111976800-111992800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:111984200-111993600	Weak transcription	Fetal Muscle Leg	muscle
3	chr5:111984800-111989200	Weak transcription	HSMMtube	muscle
4	chr5:111986200-111989200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr5:111986200-111991000	Weak transcription	Liver	Liver
6	chr5:111986400-111989200	Weak transcription	Fetal Intestine Small	intestine
7	chr5:111988400-111989200	Weak transcription	Fetal Intestine Large	intestine
8	chr5:111989000-111990400	Enhancers	HSMM	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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