Variant report

Variant	rs60947347
Chromosome Location	chr8:125786172-125786173
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125783670..125786724-chr8:125787863..125791688,3	K562	blood:
2	chr8:125784279..125787220-chr8:125787863..125791688,4	K562	blood:
3	chr8:125784610..125786234-chr8:125867558..125869281,2	MCF-7	breast:
4	chr8:125784252..125789525-chr8:125791354..125795581,7	MCF-7	breast:

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	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4871549	0.84[EUR][1000 genomes]
rs55764023	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55802810	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55838030	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55861013	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55875518	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55880902	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56172038	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56260476	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56291233	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56325389	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56391929	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59002304	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59042751	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73704411	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704412	0.86[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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125774200-125795800	Weak transcription	Pancreas	Pancrea
2	chr8:125779000-125788000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:125783200-125786200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:125783600-125786400	Enhancers	HMEC	breast
5	chr8:125783600-125787400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:125783600-125788800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr8:125783800-125786200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:125784800-125786800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr8:125784800-125786800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr8:125784800-125787600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:125784800-125787800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:125784800-125787800	Weak transcription	Brain Angular Gyrus	brain
13	chr8:125784800-125787800	Weak transcription	Lung	lung
14	chr8:125784800-125788000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:125784800-125788200	Weak transcription	Spleen	Spleen
16	chr8:125785000-125786600	Weak transcription	Fetal Muscle Leg	muscle
17	chr8:125785000-125787600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:125785000-125787600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr8:125785000-125787600	Enhancers	HepG2	liver
20	chr8:125785000-125787800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:125785000-125787800	Weak transcription	Brain Anterior Caudate	brain
22	chr8:125785000-125787800	Weak transcription	Brain Hippocampus Middle	brain
23	chr8:125785000-125787800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr8:125785000-125787800	Weak transcription	Brain Substantia Nigra	brain
25	chr8:125785000-125788000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr8:125785000-125788200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:125785000-125788200	Weak transcription	Fetal Intestine Large	intestine
28	chr8:125785000-125788200	Weak transcription	Right Atrium	heart
29	chr8:125785000-125788200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr8:125785000-125791200	Weak transcription	Placenta	Placenta
31	chr8:125785000-125793000	Weak transcription	Esophagus	oesophagus
32	chr8:125785000-125793200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr8:125785000-125794000	Weak transcription	Primary B cells from cord blood	blood
34	chr8:125785000-125794600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr8:125785400-125786200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:125785600-125787600	Weak transcription	Left Ventricle	heart
37	chr8:125785600-125787800	Weak transcription	Psoas Muscle	Psoas
38	chr8:125785600-125787800	Weak transcription	NHDF-Ad	bronchial
39	chr8:125785600-125788000	Weak transcription	Right Ventricle	heart
40	chr8:125785600-125788200	Weak transcription	NHLF	lung
41	chr8:125785800-125786200	Weak transcription	Fetal Lung	lung
42	chr8:125785800-125786600	Enhancers	Fetal Heart	heart
43	chr8:125786000-125786200	Enhancers	Adipose Nuclei	Adipose

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