Variant report

Variant	rs72711249
Chromosome Location	chr8:124672417-124672418
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124661695..124666565-chr8:124667806..124672490,5	MCF-7	breast:
2	chr8:124659242..124661407-chr8:124671915..124673705,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175946	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10505438	0.87[ASN][1000 genomes]
rs10505439	0.88[ASN][1000 genomes]
rs10956143	0.95[ASN][1000 genomes]
rs16898668	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs16898685	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16898686	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16898687	0.90[ASN][1000 genomes]
rs16898689	0.91[ASN][1000 genomes]
rs16898691	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4367519	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs56737136	0.95[ASN][1000 genomes]
rs58763139	0.87[ASN][1000 genomes]
rs61264957	0.95[ASN][1000 genomes]
rs62518569	0.91[ASN][1000 genomes]
rs66970129	0.87[ASN][1000 genomes]
rs72711231	0.85[ASN][1000 genomes]
rs72711243	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72711245	0.98[ASN][1000 genomes]
rs72711246	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713110	1.00[ASN][1000 genomes]
rs72713116	0.95[ASN][1000 genomes]
rs9642868	0.85[ASN][1000 genomes]
rs9643183	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv3324945	chr8:124669371-124673969	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124666200-124674000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:124666800-124678600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:124668200-124673200	Weak transcription	Esophagus	oesophagus
4	chr8:124668200-124673600	Weak transcription	Pancreas	Pancrea
5	chr8:124668400-124680800	Weak transcription	Fetal Heart	heart
6	chr8:124669800-124673400	Weak transcription	HMEC	breast
7	chr8:124670000-124673600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:124670000-124673600	Weak transcription	Psoas Muscle	Psoas
9	chr8:124670400-124673600	Weak transcription	Aorta	Aorta
10	chr8:124670400-124673800	Weak transcription	HSMMtube	muscle
11	chr8:124670400-124678400	Weak transcription	Right Atrium	heart
12	chr8:124670600-124673800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:124670600-124674400	Weak transcription	Placenta	Placenta
14	chr8:124671000-124673600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr8:124671000-124681000	Weak transcription	Brain Substantia Nigra	brain
16	chr8:124671200-124673200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr8:124671200-124673800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr8:124671200-124674200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:124671200-124675800	Weak transcription	Fetal Intestine Small	intestine
20	chr8:124671200-124681800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr8:124671400-124673600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:124671400-124674200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:124671400-124674200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:124671400-124676400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr8:124671400-124681000	Weak transcription	HSMM	muscle
26	chr8:124671600-124673600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:124671600-124673800	Weak transcription	NHDF-Ad	bronchial
28	chr8:124671600-124673800	Weak transcription	Osteobl	bone
29	chr8:124671800-124681000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:124672200-124673400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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