Variant report

Variant	rs73706131
Chromosome Location	chr8:125852951-125852952
allele	C/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	chr8:125851467..125856602-chr8:125857773..125861438,7	K562	blood:
2	chr8:125846878..125850160-chr8:125852812..125855632,3	K562	blood:
3	chr8:125848148..125849956-chr8:125851282..125854151,2	MCF-7	breast:
4	chr8:125851298..125853830-chr8:125862569..125864534,2	MCF-7	breast:
5	chr8:125808427..125810634-chr8:125852505..125855502,2	MCF-7	breast:
6	chr8:125847137..125849263-chr8:125851219..125853142,2	K562	blood:
7	chr8:125826627..125828978-chr8:125852781..125856701,4	K562	blood:
8	chr8:125845588..125849228-chr8:125849730..125853632,5	MCF-7	breast:
9	chr8:125824069..125826348-chr8:125852488..125855335,2	K562	blood:
10	chr8:125825562..125827857-chr8:125852824..125856863,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000249816	Chromatin interaction
ENSG00000255491	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57223956	1.00[AFR][1000 genomes]
rs73704472	1.00[AFR][1000 genomes]
rs73706126	1.00[AFR][1000 genomes]
rs73706156	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125847000-125853800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:125847200-125854800	Weak transcription	Esophagus	oesophagus
3	chr8:125847200-125855400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:125847400-125854000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:125847400-125854600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr8:125847400-125854600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr8:125847400-125855000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:125847400-125860600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:125848400-125854800	Weak transcription	Pancreas	Pancrea
10	chr8:125850400-125853200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr8:125850800-125853000	Enhancers	Brain Germinal Matrix	brain
12	chr8:125851200-125853000	Enhancers	Lung	lung
13	chr8:125851200-125853200	Enhancers	Fetal Heart	heart
14	chr8:125851400-125853400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr8:125851600-125854600	Weak transcription	Brain Anterior Caudate	brain
16	chr8:125851600-125854600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:125851800-125854400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:125851800-125854600	Weak transcription	Brain Angular Gyrus	brain
19	chr8:125852000-125853000	Enhancers	Primary hematopoietic stem cells	blood
20	chr8:125852000-125853000	Enhancers	Spleen	Spleen
21	chr8:125852200-125853000	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr8:125852200-125853000	Enhancers	Primary B cells from peripheral blood	blood
23	chr8:125852200-125853000	Enhancers	Primary T cells from cord blood	blood
24	chr8:125852200-125853000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:125852200-125853000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr8:125852200-125853000	Enhancers	Right Ventricle	heart
27	chr8:125852200-125853000	Enhancers	K562	blood
28	chr8:125852200-125856400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr8:125852400-125853000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr8:125852400-125853000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr8:125852400-125853000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr8:125852400-125853000	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr8:125852400-125853000	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr8:125852400-125853000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:125852400-125853000	Enhancers	Fetal Thymus	thymus
36	chr8:125852400-125853000	Enhancers	Left Ventricle	heart
37	chr8:125852400-125853000	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr8:125852400-125853000	Enhancers	Thymus	Thymus
39	chr8:125852400-125853000	Enhancers	HUVEC	blood vessel
40	chr8:125852400-125853000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr8:125852400-125853200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr8:125852400-125853200	Enhancers	Placenta	Placenta
43	chr8:125852400-125854000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr8:125852400-125854200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr8:125852400-125854200	Weak transcription	Brain Hippocampus Middle	brain
46	chr8:125852400-125854600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr8:125852400-125854800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:125852600-125853000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:125852600-125853000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:125852600-125853000	Enhancers	Fetal Muscle Leg	muscle

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