Variant report

Variant	rs11579927
Chromosome Location	chr1:217324311-217324312
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10495041	0.85[CHD][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];0.92[AMR][1000 genomes]
rs11576172	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11576806	0.85[CHD][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];0.88[AMR][1000 genomes]
rs11586921	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12739810	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12749238	0.93[ASN][1000 genomes]
rs12751962	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1502356	1.00[MKK][hapmap];0.88[AMR][1000 genomes]
rs17695327	1.00[MKK][hapmap];0.81[AMR][1000 genomes]
rs35478056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35579427	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35685026	0.92[AMR][1000 genomes]
rs35778506	0.92[AMR][1000 genomes]
rs35963574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71643444	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs71643445	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv468160	chr1:217318595-217324654	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv468172	chr1:217318595-217324654	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv549206	chr1:217318595-217324654	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11579927	VASH2	cis	parietal	SCAN
rs11579927	BATF3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217318400-217325800	Weak transcription	Aorta	Aorta
2	chr1:217323400-217327000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:217324000-217325200	Weak transcription	Fetal Lung	lung

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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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