Variant report

Variant	rs12143703
Chromosome Location	chr1:210692594-210692595
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10489385	1.00[ASW][hapmap]
rs12117750	0.91[CEU][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12124208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142231	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12143482	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12145163	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17260431	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17260438	1.00[ASW][hapmap];0.91[CEU][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17260466	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3819985	1.00[ASW][hapmap]
rs4253918	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4620549	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55726579	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55780618	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6540599	0.86[AMR][1000 genomes];0.89[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	nsv873147	chr1:210665583-210696806	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12143703	CNTN2	cis	parietal	SCAN
rs12143703	INTS7	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210674400-210719600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:210680600-210731000	Weak transcription	HSMM	muscle
3	chr1:210688400-210699600	Weak transcription	HSMMtube	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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