Variant report

Variant	rs2581054
Chromosome Location	chr2:12119114-12119115
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1371609	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1371610	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1595810	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1837488	1.00[ASN][1000 genomes]
rs2255293	0.97[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2581055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2581061	0.94[ASN][1000 genomes]
rs2581069	0.95[AFR][1000 genomes]
rs2716641	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6721143	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6736031	0.89[ASN][1000 genomes]
rs6761070	0.86[ASW][hapmap];0.87[YRI][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	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv833403	chr2:11944552-12125634	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2581054	KCNF1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12115600-12119600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:12115800-12119600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:12115800-12127200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:12116000-12121000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:12116400-12122600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:12118200-12119600	Enhancers	GM12878-XiMat	blood

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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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