Variant report

Variant	rs12127723
Chromosome Location	chr1:73141767-73141768
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11210056	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12729247	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1358041	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1358042	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1405052	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1525986	0.86[ASW][hapmap];0.96[CEU][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1525987	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1525988	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1525989	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2692856	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2692858	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4146851	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4650152	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422432	chr1:72821856-73148651	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv428101	chr1:73017520-73211351	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv871371	chr1:73048685-73152104	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv871636	chr1:73048685-73274919	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv871181	chr1:73084221-73305593	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12127723	ASB17	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:73137000-73143000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:73141600-73143400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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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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