Variant report

Variant	rs72711243
Chromosome Location	chr8:124667213-124667214
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	chr8:124656327..124658581-chr8:124667209..124669646,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10505438	0.89[ASN][1000 genomes]
rs10505439	0.90[ASN][1000 genomes]
rs10956143	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16898668	0.82[ASN][1000 genomes]
rs16898685	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16898686	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16898687	0.92[ASN][1000 genomes]
rs16898689	0.93[ASN][1000 genomes]
rs16898691	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4367519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56737136	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs58763139	0.89[ASN][1000 genomes]
rs61264957	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62518569	0.93[ASN][1000 genomes]
rs66970129	0.89[ASN][1000 genomes]
rs72711231	0.86[ASN][1000 genomes]
rs72711245	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711249	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713110	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72713116	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9642868	0.86[ASN][1000 genomes]
rs9643183	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612140	chr8:124604759-124738618	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1032155	chr8:124609702-124739559	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv1841904	chr8:124664130-124676037	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124661200-124670000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr8:124664000-124668000	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr8:124664200-124667800	Enhancers	Placenta	Placenta
4	chr8:124664200-124668200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:124664200-124668400	Enhancers	Ovary	ovary
6	chr8:124664200-124669000	Enhancers	Fetal Stomach	stomach
7	chr8:124665000-124669400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:124665200-124667800	Enhancers	NHDF-Ad	bronchial
9	chr8:124665400-124667600	Enhancers	Brain Angular Gyrus	brain
10	chr8:124665400-124668000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:124665400-124668200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:124665400-124668400	Enhancers	Fetal Intestine Large	intestine
13	chr8:124666000-124667600	Enhancers	Right Atrium	heart
14	chr8:124666200-124667600	Flanking Active TSS	Fetal Heart	heart
15	chr8:124666200-124667600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr8:124666200-124668000	Flanking Active TSS	Rectal Smooth Muscle	rectum
17	chr8:124666200-124668200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr8:124666200-124669400	Weak transcription	HMEC	breast
19	chr8:124666200-124669600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:124666200-124674000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:124666400-124668000	Enhancers	Right Ventricle	heart
22	chr8:124666400-124669200	Weak transcription	NHEK	skin
23	chr8:124666400-124669600	Weak transcription	NH-A	brain
24	chr8:124666400-124669800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:124666400-124671200	Enhancers	Fetal Muscle Leg	muscle
26	chr8:124666600-124667400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:124666600-124667400	Enhancers	HepG2	liver
28	chr8:124666600-124667600	Enhancers	Fetal Brain Male	brain
29	chr8:124666600-124667600	Enhancers	Fetal Muscle Trunk	muscle
30	chr8:124666600-124667600	Enhancers	HSMMtube	muscle
31	chr8:124666600-124667800	Weak transcription	Osteobl	bone
32	chr8:124666600-124668200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:124666600-124668400	Enhancers	Left Ventricle	heart
34	chr8:124666600-124668800	Enhancers	Psoas Muscle	Psoas
35	chr8:124666600-124669800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:124666800-124667800	Enhancers	Aorta	Aorta
37	chr8:124666800-124668000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:124666800-124668200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr8:124666800-124670000	Weak transcription	HSMM	muscle
40	chr8:124666800-124678600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:124667000-124667400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:124667000-124667400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr8:124667000-124667600	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr8:124667000-124667600	Enhancers	Esophagus	oesophagus
45	chr8:124667000-124668000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:124667000-124668200	Enhancers	Lung	lung
47	chr8:124667000-124668800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:124667000-124670000	Weak transcription	NHLF	lung
49	chr8:124667000-124670200	Weak transcription	Brain Anterior Caudate	brain
50	chr8:124667200-124667400	Flanking Active TSS	Colon Smooth Muscle	Colon

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