Variant report

Variant	rs1407163
Chromosome Location	chr6:85872082-85872083
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10944065	0.88[EUR][1000 genomes]
rs10944066	0.88[EUR][1000 genomes]
rs10944072	0.84[EUR][1000 genomes]
rs10944073	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11752482	0.96[EUR][1000 genomes]
rs12195860	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12196763	0.90[EUR][1000 genomes]
rs12198003	0.96[EUR][1000 genomes]
rs12198648	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12204198	0.90[EUR][1000 genomes]
rs12211596	0.82[EUR][1000 genomes]
rs1325976	0.87[EUR][1000 genomes]
rs1332371	1.00[EUR][1000 genomes]
rs16875813	0.88[ASN][1000 genomes]
rs16875818	0.81[ASN][1000 genomes]
rs4363008	0.84[EUR][1000 genomes]
rs618586	0.86[JPT][hapmap]
rs633322	0.86[JPT][hapmap]
rs662760	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs671213	1.00[ASN][1000 genomes]
rs6925411	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72912229	0.87[EUR][1000 genomes]
rs7741178	0.83[ASN][1000 genomes]
rs7746677	0.87[EUR][1000 genomes]
rs7750840	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7751010	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7768362	0.83[ASN][1000 genomes]
rs7772456	0.88[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	nsv1017418	chr6:85344786-86259540	Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv538347	chr6:85344786-86259540	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1407163	TBX18	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:85871400-85872400	Enhancers	Brain Germinal Matrix	brain
2	chr6:85872000-85873200	Weak transcription	Fetal Muscle Leg	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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