Variant report

Variant	rs56260476
Chromosome Location	chr8:125788625-125788626
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125787394..125789828-chr8:125939944..125942662,2	MCF-7	breast:
2	chr8:125784279..125787220-chr8:125787863..125791688,4	K562	blood:
3	chr8:125770013..125772423-chr8:125787066..125788729,2	K562	blood:
4	chr8:125786607..125791262-chr8:125825936..125829275,5	K562	blood:
5	chr8:125784252..125789525-chr8:125791354..125795581,7	MCF-7	breast:
6	chr8:125783670..125786724-chr8:125787863..125791688,3	K562	blood:
7	chr8:125781743..125783690-chr8:125787007..125789653,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255491	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10102575	0.81[EUR][1000 genomes]
rs4871542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4871549	0.84[EUR][1000 genomes]
rs55764023	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55802810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55838030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55861013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55875518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55880902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56172038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56291233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56325389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56391929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59002304	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59042751	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60947347	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704435	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73704439	0.88[EUR][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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125774200-125795800	Weak transcription	Pancreas	Pancrea
2	chr8:125783600-125788800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr8:125785000-125791200	Weak transcription	Placenta	Placenta
4	chr8:125785000-125793000	Weak transcription	Esophagus	oesophagus
5	chr8:125785000-125793200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:125785000-125794000	Weak transcription	Primary B cells from cord blood	blood
7	chr8:125785000-125794600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:125787400-125792200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:125787600-125788800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:125787600-125788800	Enhancers	Left Ventricle	heart
11	chr8:125787600-125789000	Enhancers	Fetal Heart	heart
12	chr8:125787600-125789600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:125787800-125788800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:125787800-125788800	Enhancers	Brain Angular Gyrus	brain
15	chr8:125787800-125788800	Enhancers	Brain Hippocampus Middle	brain
16	chr8:125787800-125788800	Enhancers	Brain Substantia Nigra	brain
17	chr8:125787800-125788800	Enhancers	Lung	lung
18	chr8:125787800-125789000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:125787800-125789000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:125787800-125789000	Enhancers	Brain Anterior Caudate	brain
21	chr8:125787800-125789000	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr8:125787800-125789000	Enhancers	Fetal Lung	lung
23	chr8:125788000-125788800	Enhancers	Brain Cingulate Gyrus	brain
24	chr8:125788000-125788800	Enhancers	Right Ventricle	heart
25	chr8:125788000-125789000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:125788000-125789000	Enhancers	Fetal Muscle Leg	muscle
27	chr8:125788200-125788800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:125788200-125788800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr8:125788200-125788800	Enhancers	Spleen	Spleen
30	chr8:125788200-125789000	Enhancers	Adipose Nuclei	Adipose
31	chr8:125788200-125792000	Weak transcription	HepG2	liver
32	chr8:125788400-125793200	Weak transcription	Fetal Intestine Small	intestine
33	chr8:125788600-125791800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:125788600-125793400	Weak transcription	Fetal Intestine Large	intestine

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