Variant report

Variant	rs11175443
Chromosome Location	chr12:64944386-64944387
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10459260	0.87[EUR][1000 genomes]
rs10784414	0.83[EUR][1000 genomes]
rs10878191	0.84[ASN][1000 genomes]
rs11175430	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11175442	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11175444	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4964085	0.82[ASN][1000 genomes]
rs4964109	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61933870	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6581575	0.87[EUR][1000 genomes]
rs7312250	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7963840	0.83[ASN][1000 genomes]
rs7969932	0.86[EUR][1000 genomes]
rs7972780	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832443	chr12:64878856-65057265	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64931400-64944800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr12:64939200-64944800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr12:64943000-64946000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:64943400-64946400	Enhancers	Fetal Muscle Leg	muscle
5	chr12:64943600-64946000	Enhancers	Adipose Nuclei	Adipose
6	chr12:64943800-64944600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:64943800-64944800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:64943800-64944800	Weak transcription	Fetal Kidney	kidney
9	chr12:64943800-64945800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:64944000-64944400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:64944000-64944600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:64944000-64946000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr12:64944200-64944400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr12:64944200-64944800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:64944200-64945800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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