Variant report

Variant	rs30099
Chromosome Location	chr5:52418582-52418583
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1109527	0.81[ASW][hapmap];0.88[CEU][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs1421934	0.86[EUR][1000 genomes]
rs1541689	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs1833557	0.86[EUR][1000 genomes]
rs2287872	0.86[EUR][1000 genomes]
rs2406599	0.86[EUR][1000 genomes]
rs25826	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs27406	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs27420	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs27915	1.00[MEX][hapmap]
rs30727	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3212616	0.91[EUR][1000 genomes]
rs35234	1.00[MEX][hapmap]
rs996765	0.86[EUR][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	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv880957	chr5:52418582-52443231	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52406400-52419000	Weak transcription	Left Ventricle	heart
2	chr5:52406800-52422000	Weak transcription	NHLF	lung
3	chr5:52406800-52422200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:52407000-52418800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:52407000-52418800	Weak transcription	NHEK	skin
6	chr5:52407000-52419000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:52407200-52418800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:52410400-52421800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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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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