Variant report

Variant	rs483657
Chromosome Location	chr11:100865448-100865449
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4754715	0.84[AFR][1000 genomes]
rs524811	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100848200-100866000	Weak transcription	Psoas Muscle	Psoas
2	chr11:100848600-100865800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:100849200-100867400	Weak transcription	Fetal Lung	lung
4	chr11:100851000-100870400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:100857600-100870400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:100858600-100865600	Weak transcription	Fetal Muscle Leg	muscle
7	chr11:100858600-100870400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr11:100861800-100866000	Weak transcription	HSMMtube	muscle
9	chr11:100862400-100865600	Weak transcription	Placenta	Placenta
10	chr11:100862400-100866800	Weak transcription	Fetal Heart	heart
11	chr11:100864000-100867800	Weak transcription	Aorta	Aorta
12	chr11:100865200-100867000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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