Variant report

Variant	rs4972807
Chromosome Location	chr2:173214847-173214848
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11691210	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13391645	0.84[EUR][1000 genomes]
rs13425570	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13426078	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13428743	0.84[EUR][1000 genomes]
rs35703952	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4246625	0.84[EUR][1000 genomes]
rs4552157	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62169683	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716471	0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4972807	SLC25A12	cis	parietal	SCAN
rs4972807	METTL8	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173204600-173218400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:173207200-173219200	Weak transcription	Right Atrium	heart
3	chr2:173210400-173219000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:173214000-173215400	Weak transcription	Liver	Liver
5	chr2:173214000-173215600	Weak transcription	Psoas Muscle	Psoas
6	chr2:173214200-173215400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:173214200-173215400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:173214200-173215600	Weak transcription	Pancreas	Pancrea
9	chr2:173214400-173216400	Weak transcription	HSMMtube	muscle
10	chr2:173214600-173215800	Weak transcription	Stomach Mucosa	stomach
11	chr2:173214800-173217200	Enhancers	Fetal Muscle Leg	muscle
12	chr2:173214800-173218600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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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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