Variant report

Variant	rs73192716
Chromosome Location	chr2:11990310-11990311
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs60887696	0.90[AFR][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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv833403	chr2:11944552-12125634	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
5	nsv508710	chr2:11982971-12028555	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11989200-11992400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr2:11989400-11990600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:11989400-11990600	Active TSS	Osteobl	bone
4	chr2:11989600-11990400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
5	chr2:11989600-11990600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:11989600-11990600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:11989800-11990400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:11989800-11990400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr2:11989800-11990400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:11990000-11990400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr2:11990000-11990400	Active TSS	Brain Angular Gyrus	brain
12	chr2:11990000-11990400	Active TSS	Brain Cingulate Gyrus	brain
13	chr2:11990000-11990400	Enhancers	Brain Germinal Matrix	brain
14	chr2:11990000-11990400	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr2:11990000-11990400	Active TSS	Brain Substantia Nigra	brain
16	chr2:11990000-11990400	Flanking Active TSS	NH-A	brain
17	chr2:11990000-11990600	Active TSS	Brain Anterior Caudate	brain
18	chr2:11990000-11990600	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr2:11990200-11990400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
20	chr2:11990200-11990600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:11990200-11990600	Active TSS	Brain Hippocampus Middle	brain
22	chr2:11990200-11990600	Bivalent/Poised TSS	Fetal Brain Female	brain
23	chr2:11990200-11990600	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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