Variant report

Variant	rs72684876
Chromosome Location	chr8:86971652-86971653
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:86971393..86973555-chr8:86981704..86983862,2	K562	blood:
2	chr8:86970330..86972821-chr8:86974744..86977309,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs72682988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72686711	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1804888	chr8:86263098-86986703	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv1807498	chr8:86405478-86986703	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv1828364	chr8:86405478-86986703	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv1831268	chr8:86405478-86986703	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv1844000	chr8:86405478-86986703	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv1851686	chr8:86405478-86986703	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv427824	chr8:86405478-86986703	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	esv2758162	chr8:86405478-87055053	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	esv2759624	chr8:86405478-87055053	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv428204	chr8:86405478-87312208	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
11	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
12	nsv482395	chr8:86766289-86986303	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv891139	chr8:86827016-87001113	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv1028959	chr8:86835367-87142383	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv891146	chr8:86841229-87083747	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
17	nsv891147	chr8:86886950-87333968	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
18	esv2753776	chr8:86918562-87020337	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86970600-86977800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:86970800-86972400	Flanking Active TSS	K562	blood
3	chr8:86971000-86971800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:86971000-86972000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:86971000-86972400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:86971000-86974000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:86971200-86971800	Enhancers	Brain Substantia Nigra	brain
8	chr8:86971200-86972400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:86971200-86972800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr8:86971200-86973000	Enhancers	Fetal Brain Male	brain
11	chr8:86971200-86977600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:86971400-86971800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr8:86971400-86971800	Flanking Active TSS	Brain Angular Gyrus	brain
14	chr8:86971400-86971800	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr8:86971400-86971800	Enhancers	Brain Hippocampus Middle	brain
16	chr8:86971400-86971800	Enhancers	Fetal Brain Female	brain
17	chr8:86971400-86971800	Enhancers	Hela-S3	cervix
18	chr8:86971400-86972000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr8:86971400-86972000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:86971400-86972000	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr8:86971400-86972000	Enhancers	Fetal Stomach	stomach
22	chr8:86971400-86972000	Flanking Active TSS	NH-A	brain
23	chr8:86971400-86972200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:86971400-86972200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:86971400-86972200	Enhancers	Fetal Lung	lung
26	chr8:86971400-86972400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:86971400-86972400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr8:86971400-86972400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr8:86971400-86972800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:86971600-86971800	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr8:86971600-86972000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:86971600-86972000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr8:86971600-86972400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:86971600-86972400	Flanking Active TSS	Osteobl	bone

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