Variant report

Variant	rs2830511
Chromosome Location	chr21:28161235-28161236
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12483502	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17561977	0.86[EUR][1000 genomes]
rs2212808	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2830488	0.84[EUR][1000 genomes]
rs2830498	0.86[EUR][1000 genomes]
rs2830499	0.86[EUR][1000 genomes]
rs2830508	0.87[EUR][1000 genomes]
rs4816292	0.87[EUR][1000 genomes]
rs62215731	0.84[EUR][1000 genomes]
rs883567	0.86[EUR][1000 genomes]
rs9647121	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[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	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2830511	GABPA	cis	parietal	SCAN
rs2830511	MIR155HG	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28156200-28168200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr21:28158400-28161800	Weak transcription	Colon Smooth Muscle	Colon
3	chr21:28158400-28162400	Weak transcription	Ovary	ovary
4	chr21:28161000-28161600	Enhancers	NHLF	lung
5	chr21:28161200-28161400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr21:28161200-28161800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr21:28161200-28161800	Enhancers	Adipose Nuclei	Adipose
8	chr21:28161200-28163000	Enhancers	Fetal Stomach	stomach
9	chr21:28161200-28163400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr21:28161200-28163600	Enhancers	Fetal Lung	lung

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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