Variant report

Variant	rs748989
Chromosome Location	chr20:10932419-10932420
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:13)

rs_ID	r²[population]
rs1107575	0.85[EUR][1000 genomes]
rs11904984	0.88[ASN][1000 genomes]
rs1409869	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6077964	0.81[ASN][1000 genomes]
rs6077969	0.88[ASN][1000 genomes]
rs6077970	0.88[ASN][1000 genomes]
rs6077973	0.88[ASN][1000 genomes]
rs6077974	0.88[ASN][1000 genomes]
rs6077978	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6077981	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6104678	0.84[EUR][1000 genomes]
rs6108759	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6131135	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065969	chr20:10850562-11464172	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv544181	chr20:10850562-11464172	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv912663	chr20:10891798-10963675	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2758513	chr20:10892138-11116725	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv2758781	chr20:10892138-11116725	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv912664	chr20:10907037-10963675	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs748989	MKKS	cis	Artery Tibial	GTEx
rs748989	MKKS	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:10930800-10933400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:10930800-10935200	Weak transcription	A549	lung
3	chr20:10931000-10933200	Weak transcription	NHEK	skin
4	chr20:10931000-10933800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr20:10931000-10935200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr20:10931200-10933200	Weak transcription	HMEC	breast
7	chr20:10931400-10933200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr20:10931400-10933400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr20:10932200-10933000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr20:10932200-10952600	Weak transcription	Pancreas	Pancrea

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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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