Variant report

Variant	rs73704472
Chromosome Location	chr8:125828507-125828508
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125826373..125828748-chr8:126103559..126105908,3	K562	blood:
2	chr8:125827679..125829366-chr8:126009547..126011817,2	K562	blood:
3	chr8:125548570..125552806-chr8:125825742..125828762,4	K562	blood:
4	chr8:125549492..125551989-chr8:125824960..125829256,5	K562	blood:
5	chr8:125825851..125829198-chr8:125950064..125952936,3	K562	blood:
6	chr8:125827545..125829376-chr8:125954990..125957795,2	K562	blood:
7	chr8:125575430..125576994-chr8:125827635..125829466,2	K562	blood:
8	chr8:125825929..125828748-chr8:126103559..126105908,4	K562	blood:
9	chr8:125826381..125829374-chr8:125860039..125861622,2	K562	blood:
10	chr8:125825718..125829730-chr8:126008807..126013107,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000156831	Chromatin interaction
ENSG00000164961	Chromatin interaction
ENSG00000249816	Chromatin interaction
ENSG00000253513	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000170873	Chromatin interaction
ENSG00000104549	Chromatin interaction
ENSG00000255313	Chromatin interaction

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

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

rs_ID	r²[population]
rs57223956	1.00[AFR][1000 genomes]
rs73706126	1.00[AFR][1000 genomes]
rs73706131	1.00[AFR][1000 genomes]
rs73706156	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125826400-125828800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr8:125827000-125828600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:125827000-125828800	Enhancers	Fetal Lung	lung
4	chr8:125827200-125828600	Enhancers	Brain Substantia Nigra	brain
5	chr8:125827200-125828600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr8:125827200-125828600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr8:125827200-125828600	Enhancers	HepG2	liver
8	chr8:125827200-125828800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:125827200-125829800	Enhancers	Fetal Muscle Leg	muscle
10	chr8:125827400-125828600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:125827600-125828600	Enhancers	Psoas Muscle	Psoas
12	chr8:125827600-125828600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr8:125827600-125828800	Enhancers	Left Ventricle	heart
14	chr8:125827800-125828600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:125827800-125828600	Enhancers	Fetal Brain Male	brain
16	chr8:125827800-125828600	Enhancers	Right Atrium	heart
17	chr8:125827800-125828600	Enhancers	HSMM	muscle
18	chr8:125827800-125828600	Enhancers	NHLF	lung
19	chr8:125827800-125829600	Enhancers	Fetal Heart	heart
20	chr8:125827800-125829800	Enhancers	K562	blood
21	chr8:125828000-125828600	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr8:125828000-125828600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr8:125828000-125828600	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr8:125828000-125828600	Enhancers	Fetal Muscle Trunk	muscle
25	chr8:125828000-125828600	Enhancers	Osteobl	bone
26	chr8:125828000-125828800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:125828000-125829200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:125828000-125829200	Weak transcription	HMEC	breast
29	chr8:125828000-125831400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:125828200-125828600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:125828200-125828600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:125828200-125828600	Enhancers	Brain Anterior Caudate	brain
33	chr8:125828200-125828600	Enhancers	Brain Cingulate Gyrus	brain
34	chr8:125828200-125828600	Enhancers	Brain Germinal Matrix	brain
35	chr8:125828200-125828600	Enhancers	Brain Hippocampus Middle	brain
36	chr8:125828200-125828600	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr8:125828200-125828600	Enhancers	Fetal Stomach	stomach
38	chr8:125828200-125828800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:125828200-125828800	Enhancers	Adipose Nuclei	Adipose
40	chr8:125828200-125829000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:125828200-125829400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:125828200-125829400	Weak transcription	NHEK	skin
43	chr8:125828400-125828600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:125828400-125828600	Enhancers	Fetal Brain Female	brain
45	chr8:125828400-125828600	Enhancers	Placenta	Placenta
46	chr8:125828400-125828600	Enhancers	HSMMtube	muscle
47	chr8:125828400-125828600	Enhancers	NHDF-Ad	bronchial
48	chr8:125828400-125828800	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr8:125828400-125829600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:125828400-125835600	Weak transcription	Right Ventricle	heart

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