Variant report

Variant	rs12270673
Chromosome Location	chr11:86739976-86739977
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]
rs12790473	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2124577	0.81[AMR][1000 genomes]
rs2445537	0.81[AMR][1000 genomes]
rs2445538	1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs2445543	0.87[YRI][hapmap]
rs2512364	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2512370	0.89[JPT][hapmap];0.85[AMR][1000 genomes]
rs2512373	0.85[AMR][1000 genomes]
rs2512478	0.89[JPT][hapmap]
rs2512498	0.83[AMR][1000 genomes]
rs2512502	0.90[CEU][hapmap];0.89[JPT][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2513206	0.81[AMR][1000 genomes]
rs2513232	0.87[JPT][hapmap]
rs3740659	0.90[CEU][hapmap];0.89[JPT][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4944657	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7934461	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs921875	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[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	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
4	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
5	nsv975960	chr11:86735786-86740095	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86731800-86748200	Weak transcription	Fetal Muscle Leg	muscle
2	chr11:86735800-86748200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:86738800-86741400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:86739000-86740000	Enhancers	HepG2	liver
5	chr11:86739200-86740600	Enhancers	NHEK	skin
6	chr11:86739200-86742000	Enhancers	HMEC	breast
7	chr11:86739400-86741000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:86739600-86740600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:86739600-86740800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:86739800-86740200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:86739800-86741000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:86739800-86741400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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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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