Variant report

Variant	rs12482313
Chromosome Location	chr21:37818879-37818880
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11088348	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12106450	1.00[EUR][1000 genomes]
rs12481853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12482585	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16994107	1.00[EUR][1000 genomes]
rs73902523	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33578	chr21:37488312-37819627	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh 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 miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1064194	chr21:37782214-37819820	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv834090	chr21:37812545-38009542	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37804000-37831600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr21:37804000-37831600	Weak transcription	HSMMtube	muscle
3	chr21:37810400-37833400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr21:37810600-37829200	Weak transcription	HSMM	muscle
5	chr21:37810600-37829400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr21:37810800-37824600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr21:37810800-37826400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr21:37810800-37826400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr21:37810800-37826400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr21:37810800-37827000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr21:37815000-37822200	Weak transcription	Osteobl	bone
12	chr21:37817600-37821200	Strong transcription	HUVEC	blood vessel
13	chr21:37818000-37819400	Strong transcription	Skeletal Muscle Male	skeletal muscle
14	chr21:37818200-37819000	Enhancers	NH-A	brain
15	chr21:37818800-37819800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr21:37818800-37819800	Enhancers	Pancreas	Pancrea
17	chr21:37818800-37822800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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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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