Variant report

Variant	rs72709031
Chromosome Location	chr8:124544475-124544476
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124542682..124546202-chr8:124550886..124554262,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156804	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs72709032	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709035	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72709040	1.00[EUR][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	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124510200-124549200	Weak transcription	Fetal Brain Male	brain
2	chr8:124530000-124547200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:124530000-124547600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr8:124530400-124546200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:124531000-124546000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
6	chr8:124533800-124552000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr8:124536400-124545600	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr8:124536800-124545600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:124538200-124545400	Genic enhancers	Stomach Smooth Muscle	stomach
10	chr8:124538200-124547200	Weak transcription	Small Intestine	intestine
11	chr8:124538400-124546800	Weak transcription	Stomach Mucosa	stomach
12	chr8:124538400-124552200	Weak transcription	Primary B cells from cord blood	blood
13	chr8:124538800-124545000	Strong transcription	Brain Cingulate Gyrus	brain
14	chr8:124538800-124545600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr8:124539200-124546800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:124540200-124545600	Strong transcription	Brain Hippocampus Middle	brain
17	chr8:124540400-124545200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
18	chr8:124540400-124545400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr8:124540600-124545000	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr8:124541200-124546600	Weak transcription	Fetal Lung	lung
21	chr8:124541800-124545600	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr8:124542000-124545000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:124542200-124544600	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:124542200-124544600	Strong transcription	Fetal Intestine Small	intestine
25	chr8:124542200-124544600	Strong transcription	Pancreas	Pancrea
26	chr8:124542200-124544800	Strong transcription	Liver	Liver
27	chr8:124542200-124544800	Strong transcription	Lung	lung
28	chr8:124542200-124545400	Strong transcription	Brain Angular Gyrus	brain
29	chr8:124542200-124545400	Strong transcription	Fetal Intestine Large	intestine
30	chr8:124542200-124545400	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr8:124542200-124545400	Strong transcription	Thymus	Thymus
32	chr8:124542200-124545800	Strong transcription	Brain Substantia Nigra	brain
33	chr8:124542200-124546200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:124542400-124544800	Strong transcription	Fetal Brain Female	brain
35	chr8:124542400-124545000	Strong transcription	Fetal Stomach	stomach
36	chr8:124542400-124545200	Strong transcription	Primary B cells from peripheral blood	blood
37	chr8:124542400-124545200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr8:124542400-124545400	Strong transcription	HUVEC	blood vessel
39	chr8:124542400-124545600	Strong transcription	Brain Anterior Caudate	brain
40	chr8:124542600-124545000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:124542600-124545200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr8:124542600-124546800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:124542600-124546800	Weak transcription	A549	lung
44	chr8:124542600-124548200	Weak transcription	Right Atrium	heart
45	chr8:124542800-124545400	Strong transcription	Ovary	ovary
46	chr8:124542800-124545600	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr8:124542800-124545600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:124542800-124545800	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr8:124542800-124546000	Strong transcription	HSMMtube	muscle
50	chr8:124542800-124546400	Weak transcription	Fetal Heart	heart

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