Variant report

Variant	rs12005218
Chromosome Location	chr9:78860185-78860186
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10046791	1.00[AMR][1000 genomes]
rs12005140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12336206	1.00[AMR][1000 genomes]
rs28584572	1.00[AMR][1000 genomes]
rs28701906	1.00[AMR][1000 genomes]
rs57017231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57051395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57162404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60958160	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61153189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61240461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7021121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7853238	0.95[AFR][1000 genomes];1.00[AMR][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	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv893476	chr9:78768830-78887992	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12005218	MKNK2	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:78855800-78881800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr9:78856200-78861600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr9:78856600-78870400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr9:78859000-78861400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr9:78859000-78861400	Weak transcription	Fetal Intestine Large	intestine
6	chr9:78859200-78861000	Weak transcription	Fetal Intestine Small	intestine
7	chr9:78860000-78861800	Enhancers	Monocytes-CD14+_RO01746	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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