Variant report

Variant	rs4859418
Chromosome Location	chr4:76999841-76999842
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11724260	0.83[GIH][hapmap]
rs12651516	0.81[EUR][1000 genomes]
rs17001364	0.86[CEU][hapmap]
rs4129780	0.91[TSI][hapmap]
rs41349449	0.94[GIH][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap]
rs41411447	0.94[GIH][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap]
rs41498548	0.83[GIH][hapmap]
rs4859419	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4859420	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4859610	0.98[ASN][1000 genomes]
rs6836703	0.91[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs6838328	0.83[ASN][1000 genomes]
rs6843361	0.83[ASN][1000 genomes]
rs6847897	0.83[CHB][hapmap]
rs7657846	0.83[GIH][hapmap]
rs7667810	0.83[GIH][hapmap]
rs7675618	0.89[GIH][hapmap];0.82[TSI][hapmap]
rs7678836	0.86[JPT][hapmap]

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	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1009047	chr4:76989180-77077885	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4859418	SCARB2	cis	parietal	SCAN
rs4859418	CDKL2	cis	cerebellum	SCAN
rs4859418	NUP54	cis	parietal	SCAN
rs4859418	NUP54	cis	Thyroid	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76995600-77000800	Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr4:76997000-77007200	Weak transcription	Fetal Brain Male	brain
3	chr4:76997000-77008000	Weak transcription	Brain Angular Gyrus	brain
4	chr4:76998400-77001000	Enhancers	Fetal Heart	heart
5	chr4:76998800-77000000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr4:76999000-77008200	Weak transcription	Right Ventricle	heart
7	chr4:76999400-77004200	Weak transcription	Psoas Muscle	Psoas
8	chr4:76999600-77008000	Weak transcription	Liver	Liver
9	chr4:76999800-77000400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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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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