Variant report

Variant	rs72719025
Chromosome Location	chr9:72171267-72171268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12379484	0.96[ASN][1000 genomes]
rs72719028	0.96[ASN][1000 genomes]
rs7853648	0.86[ASN][1000 genomes]
rs7861901	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817406	chr9:71675454-72179318	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1047593	chr9:71971536-72180583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1035633	chr9:71995963-72176984	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1048650	chr9:72028458-72179847	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1039966	chr9:72057304-72181564	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv893437	chr9:72118962-72223176	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1049390	chr9:72168645-72185751	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72163200-72185600	Weak transcription	Aorta	Aorta
2	chr9:72164400-72172400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:72164400-72172400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr9:72169600-72171400	Enhancers	Brain Angular Gyrus	brain
5	chr9:72170200-72184200	Weak transcription	Ovary	ovary
6	chr9:72170400-72171800	Weak transcription	NHEK	skin
7	chr9:72170400-72176000	Weak transcription	Fetal Kidney	kidney
8	chr9:72170600-72175200	Weak transcription	Liver	Liver
9	chr9:72171000-72171400	Enhancers	NH-A	brain
10	chr9:72171000-72171600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr9:72171000-72171600	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr9:72171000-72171600	Enhancers	Brain Substantia Nigra	brain
13	chr9:72171000-72172600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr9:72171200-72171400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:72171200-72171400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr9:72171200-72171400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr9:72171200-72171400	Enhancers	Right Atrium	heart
18	chr9:72171200-72171400	Enhancers	Skeletal Muscle Female	skeletal muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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