Variant report

Variant	rs2280920
Chromosome Location	chr8:124551822-124551823
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124530995..124533872-chr8:124550796..124552419,2	MCF-7	breast:
2	chr8:124547216..124549099-chr8:124550167..124552257,3	K562	blood:
3	chr8:124525228..124528986-chr8:124549190..124552536,4	MCF-7	breast:
4	chr8:124542682..124546202-chr8:124550886..124554262,4	MCF-7	breast:
5	chr8:124549104..124552059-chr8:124779314..124781040,2	MCF-7	breast:
6	chr8:124509786..124511440-chr8:124550699..124553342,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176853	Chromatin interaction
ENSG00000156804	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12678620	0.86[ASN][1000 genomes]
rs16898553	0.86[ASN][1000 genomes]
rs2280919	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2280921	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4436105	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57111244	0.89[ASN][1000 genomes]
rs58078057	0.86[ASN][1000 genomes]
rs60841063	0.86[ASN][1000 genomes]
rs62521290	0.86[ASN][1000 genomes]
rs7835298	0.84[AMR][1000 genomes];0.98[ASN][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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124533800-124552000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr8:124538400-124552200	Weak transcription	Primary B cells from cord blood	blood
3	chr8:124542800-124552400	Weak transcription	Hela-S3	cervix
4	chr8:124544600-124552200	Weak transcription	Gastric	stomach
5	chr8:124544800-124552200	Weak transcription	Liver	Liver
6	chr8:124545000-124552000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:124545200-124552200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr8:124546200-124552000	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr8:124547600-124552000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr8:124548200-124552200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr8:124548200-124552600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:124548600-124552000	Enhancers	NHEK	skin
13	chr8:124548600-124554000	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr8:124548800-124554400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:124549200-124552000	Enhancers	Adipose Nuclei	Adipose
16	chr8:124549800-124552200	Active TSS	Esophagus	oesophagus
17	chr8:124549800-124552400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:124549800-124552800	Enhancers	Fetal Brain Male	brain
19	chr8:124549800-124553200	Flanking Active TSS	HUVEC	blood vessel
20	chr8:124549800-124553800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:124550000-124552000	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr8:124550000-124554000	Active TSS	Thymus	Thymus
23	chr8:124550200-124552600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:124550200-124554600	Active TSS	Fetal Brain Female	brain
25	chr8:124550400-124552000	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
26	chr8:124550400-124553400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
27	chr8:124550600-124552000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:124550600-124552000	Active TSS	Fetal Intestine Small	intestine
29	chr8:124550600-124552200	Weak transcription	NHLF	lung
30	chr8:124550600-124554200	Active TSS	HSMMtube	muscle
31	chr8:124550800-124552000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr8:124550800-124552000	Active TSS	Colonic Mucosa	Colon
33	chr8:124550800-124552000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr8:124550800-124552000	Active TSS	Rectal Smooth Muscle	rectum
35	chr8:124550800-124552000	Active TSS	Right Atrium	heart
36	chr8:124550800-124552000	Weak transcription	Small Intestine	intestine
37	chr8:124550800-124552000	Weak transcription	Spleen	Spleen
38	chr8:124550800-124552200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:124550800-124552200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:124550800-124552200	Active TSS	Left Ventricle	heart
41	chr8:124550800-124552200	Weak transcription	A549	lung
42	chr8:124550800-124552400	Weak transcription	GM12878-XiMat	blood
43	chr8:124550800-124552600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:124550800-124554200	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr8:124550800-124554200	Active TSS	Aorta	Aorta
46	chr8:124550800-124554200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr8:124550800-124554400	Active TSS	Ovary	ovary
48	chr8:124550800-124554400	Active TSS	Psoas Muscle	Psoas
49	chr8:124551000-124552000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr8:124551000-124552000	Weak transcription	Muscle Satellite Cultured Cells	--

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