Variant report

Variant	rs4245429
Chromosome Location	chr11:86728499-86728500
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10466732	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10751146	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10792898	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10792899	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12790462	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1551503	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1963952	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2034848	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4245428	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4245430	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4944662	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71460024	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7927570	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7943831	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7949018	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs921873	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs991773	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2756074	chr11:86456552-86729552	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1037042	chr11:86586876-86978492	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv541119	chr11:86586876-86978492	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86725000-86730400	Weak transcription	Right Atrium	heart
2	chr11:86725800-86730400	Weak transcription	Left Ventricle	heart
3	chr11:86725800-86730600	Weak transcription	Fetal Lung	lung
4	chr11:86726000-86730400	Weak transcription	Adipose Nuclei	Adipose
5	chr11:86726000-86730400	Weak transcription	Fetal Stomach	stomach
6	chr11:86726000-86730600	Weak transcription	Fetal Muscle Leg	muscle
7	chr11:86726000-86731000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:86726200-86730600	Weak transcription	Fetal Heart	heart
9	chr11:86726200-86731400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:86727600-86729800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:86728000-86731000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:86728000-86732800	Enhancers	HepG2	liver
13	chr11:86728200-86729200	Weak transcription	Lung	lung

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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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