Variant report

Variant	rs518485
Chromosome Location	chr11:100980706-100980707
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1783747	0.91[AMR][1000 genomes]
rs528237	0.91[AMR][1000 genomes]
rs580512	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs631003	1.00[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	nsv1048356	chr11:100713096-101058995	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv541154	chr11:100713096-101058995	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100905400-100997600	Weak transcription	Left Ventricle	heart
2	chr11:100972400-100990600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:100975800-100996800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr11:100978000-100996400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:100980000-100980800	Enhancers	Aorta	Aorta
6	chr11:100980200-100986800	Weak transcription	Ovary	ovary
7	chr11:100980600-100981200	ZNF genes & repeats	Fetal Lung	lung

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

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