Variant report

Variant	rs28716559
Chromosome Location	chr5:8844736-8844737
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10035283	1.00[EUR][1000 genomes]
rs10036835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10037623	1.00[EUR][1000 genomes]
rs10042817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10042965	1.00[EUR][1000 genomes]
rs10056666	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10057659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10060957	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10071717	1.00[EUR][1000 genomes]
rs10078254	1.00[EUR][1000 genomes]
rs13355545	1.00[EUR][1000 genomes]
rs13360155	1.00[EUR][1000 genomes]
rs16881312	1.00[EUR][1000 genomes]
rs16881410	1.00[EUR][1000 genomes]
rs16881411	1.00[EUR][1000 genomes]
rs17414017	1.00[EUR][1000 genomes]
rs28594528	1.00[EUR][1000 genomes]
rs28772988	1.00[EUR][1000 genomes]
rs57169216	1.00[EUR][1000 genomes]
rs6882376	1.00[EUR][1000 genomes]
rs6891810	1.00[EUR][1000 genomes]
rs6892140	1.00[EUR][1000 genomes]
rs73035694	1.00[EUR][1000 genomes]
rs7703531	1.00[EUR][1000 genomes]
rs7704778	1.00[EUR][1000 genomes]
rs7710498	1.00[EUR][1000 genomes]
rs7730623	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881438	chr5:8728874-9695667	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	esv3492014	chr5:8749469-9004066	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3492015	chr5:8749469-9004066	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv461944	chr5:8758041-9209831	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv597069	chr5:8758041-9209831	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1016937	chr5:8824417-9402871	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
7	nsv537638	chr5:8824417-9402871	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
8	nsv918004	chr5:8824417-9402871	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8841800-8845600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:8842000-8845000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:8842000-8846000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:8842600-8846400	Enhancers	NHLF	lung
5	chr5:8842800-8844800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:8842800-8845200	Enhancers	Dnd41	blood
7	chr5:8842800-8846600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:8843000-8845000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr5:8843000-8845400	Enhancers	NH-A	brain
10	chr5:8843000-8845600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:8843000-8847200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:8843200-8845200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr5:8843200-8846200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:8843200-8846200	Enhancers	Osteobl	bone
15	chr5:8843600-8844800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:8843600-8844800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:8843600-8844800	Enhancers	Fetal Stomach	stomach
18	chr5:8843600-8845000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr5:8843800-8844800	Enhancers	HSMM	muscle
20	chr5:8843800-8845000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:8844000-8844800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:8844000-8844800	Enhancers	Brain Angular Gyrus	brain
23	chr5:8844200-8845200	Enhancers	Brain Anterior Caudate	brain
24	chr5:8844200-8845200	Enhancers	Brain Substantia Nigra	brain
25	chr5:8844200-8845400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr5:8844400-8844800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:8844400-8845200	Enhancers	Brain Cingulate Gyrus	brain
28	chr5:8844400-8845800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:8844600-8845000	Enhancers	Brain Hippocampus Middle	brain
30	chr5:8844600-8845600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr5:8844600-8846400	Enhancers	NHDF-Ad	bronchial
32	chr5:8844600-8848200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:8844600-8849200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:8844600-8849400	Weak transcription	HMEC	breast
35	chr5:8844600-8850600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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