Variant report

Variant	rs12419615
Chromosome Location	chr11:93790009-93790010
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2176565	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7119800	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72966603	0.83[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	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12419615	CNKSR2	trans	parietal	SCAN
rs12419615	HEPHL1	cis	Artery Aorta	GTEx
rs12419615	HEPHL1	cis	Artery Tibial	GTEx
rs12419615	GPR83	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93780200-93793800	Weak transcription	Fetal Intestine Large	intestine
2	chr11:93788600-93791200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:93789200-93791400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:93789200-93791400	Weak transcription	NHEK	skin
5	chr11:93789200-93793800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:93789200-93793800	Weak transcription	Aorta	Aorta

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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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