Variant report

Variant	rs62521287
Chromosome Location	chr8:124552133-124552134
allele	C/T
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	chr8:124551934..124554097-chr8:124626463..124629241,3	MCF-7	breast:
3	chr8:124547216..124549099-chr8:124550167..124552257,3	K562	blood:
4	chr8:124525228..124528986-chr8:124549190..124552536,4	MCF-7	breast:
5	chr8:124542682..124546202-chr8:124550886..124554262,4	MCF-7	breast:
6	chr8:124509786..124511440-chr8:124550699..124553342,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253286	Chromatin interaction
ENSG00000156804	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs140613	0.81[EUR][1000 genomes]
rs17337621	0.95[EUR][1000 genomes]
rs17338552	0.81[EUR][1000 genomes]
rs62518433	0.81[EUR][1000 genomes]
rs62518434	0.81[EUR][1000 genomes]
rs62518437	0.81[EUR][1000 genomes]
rs62518438	0.81[EUR][1000 genomes]
rs62518439	0.81[EUR][1000 genomes]
rs62518440	0.81[EUR][1000 genomes]
rs62520862	0.81[EUR][1000 genomes]
rs62520863	0.81[EUR][1000 genomes]
rs62521284	0.95[EUR][1000 genomes]
rs62521286	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62521288	0.98[EUR][1000 genomes]
rs62521289	1.00[EUR][1000 genomes]
rs62521291	0.98[EUR][1000 genomes]
rs62521292	0.84[EUR][1000 genomes]
rs6999582	0.98[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:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124538400-124552200	Weak transcription	Primary B cells from cord blood	blood
2	chr8:124542800-124552400	Weak transcription	Hela-S3	cervix
3	chr8:124544600-124552200	Weak transcription	Gastric	stomach
4	chr8:124544800-124552200	Weak transcription	Liver	Liver
5	chr8:124545200-124552200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr8:124548200-124552200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr8:124548200-124552600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:124548600-124554000	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr8:124548800-124554400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:124549800-124552200	Active TSS	Esophagus	oesophagus
11	chr8:124549800-124552400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:124549800-124552800	Enhancers	Fetal Brain Male	brain
13	chr8:124549800-124553200	Flanking Active TSS	HUVEC	blood vessel
14	chr8:124549800-124553800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:124550000-124554000	Active TSS	Thymus	Thymus
16	chr8:124550200-124552600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:124550200-124554600	Active TSS	Fetal Brain Female	brain
18	chr8:124550400-124553400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
19	chr8:124550600-124552200	Weak transcription	NHLF	lung
20	chr8:124550600-124554200	Active TSS	HSMMtube	muscle
21	chr8:124550800-124552200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:124550800-124552200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:124550800-124552200	Active TSS	Left Ventricle	heart
24	chr8:124550800-124552200	Weak transcription	A549	lung
25	chr8:124550800-124552400	Weak transcription	GM12878-XiMat	blood
26	chr8:124550800-124552600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:124550800-124554200	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr8:124550800-124554200	Active TSS	Aorta	Aorta
29	chr8:124550800-124554200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:124550800-124554400	Active TSS	Ovary	ovary
31	chr8:124550800-124554400	Active TSS	Psoas Muscle	Psoas
32	chr8:124551200-124552200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr8:124551200-124552200	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr8:124551200-124554000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:124551200-124554000	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr8:124551200-124554200	Active TSS	Brain Anterior Caudate	brain
37	chr8:124551200-124554200	Active TSS	Brain Substantia Nigra	brain
38	chr8:124551400-124552200	Active TSS	Fetal Intestine Large	intestine
39	chr8:124551400-124552600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr8:124551400-124552600	Active TSS	Brain Germinal Matrix	brain
41	chr8:124551400-124554000	Active TSS	NHDF-Ad	bronchial
42	chr8:124551400-124554200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:124551400-124554200	Active TSS	Right Ventricle	heart
44	chr8:124551600-124552800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr8:124551600-124553000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr8:124551600-124553200	Active TSS	Fetal Heart	heart
47	chr8:124551600-124554000	Active TSS	Brain Cingulate Gyrus	brain
48	chr8:124551600-124554000	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr8:124551800-124552200	Active TSS	Primary T cells from cord blood	blood
50	chr8:124551800-124552200	Flanking Active TSS	Fetal Stomach	stomach

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