Variant report

Variant	rs2226927
Chromosome Location	chr11:93808862-93808863
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10437575	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1138800	0.93[CHD][hapmap];0.90[GIH][hapmap]
rs1829373	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2139093	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2949857	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2949858	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2949860	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2949863	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3020010	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3020011	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4396251	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6483290	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7108501	0.83[CEU][hapmap]
rs7925817	0.83[CEU][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	nsv898183	chr11:93725384-93906735	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv898184	chr11:93741612-93969726	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2226927	AMOTL1	cis	cerebellum	SCAN
rs2226927	PANX1	cis	parietal	SCAN
rs2226927	FAM76B	cis	parietal	SCAN
rs2226927	PANX1	cis	cerebellum	SCAN
rs2226927	HEPHL1	cis	Thyroid	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93794800-93816400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr11:93801800-93812800	Weak transcription	Aorta	Aorta
3	chr11:93802400-93833400	Weak transcription	HMEC	breast
4	chr11:93802600-93816600	Weak transcription	NHEK	skin
5	chr11:93807000-93810800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:93808600-93810800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:93808600-93810800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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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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