Variant report

Variant	rs1351141
Chromosome Location	chr5:127550055-127550056
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10089	0.85[GIH][hapmap]
rs1559263	0.85[GIH][hapmap]
rs17164310	0.85[GIH][hapmap]
rs2054444	0.85[GIH][hapmap]
rs3805615	0.85[GIH][hapmap]
rs4835944	0.82[GIH][hapmap]
rs55902659	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56718459	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7703634	0.82[GIH][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	nsv830482	chr5:127475398-127665377	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv969272	chr5:127544309-127551686	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1351141	LASP1	trans	parietal	SCAN
rs1351141	FBN2	cis	cerebellum	SCAN
rs1351141	FBN2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127537600-127552600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:127544600-127552200	Weak transcription	Left Ventricle	heart
3	chr5:127548400-127552800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:127549000-127552800	Weak transcription	Esophagus	oesophagus
5	chr5:127549400-127550400	Weak transcription	Fetal Heart	heart
6	chr5:127549400-127551000	Weak transcription	Fetal Lung	lung
7	chr5:127549400-127552200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:127549400-127552600	Weak transcription	Fetal Muscle Leg	muscle
9	chr5:127549800-127553000	Weak transcription	Fetal Stomach	stomach

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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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