Variant report

Variant	rs72713110
Chromosome Location	chr8:124675172-124675173
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124642600..124645867-chr8:124673711..124676775,3	MCF-7	breast:
2	chr8:124674081..124675971-chr8:124683411..124685005,2	MCF-7	breast:
3	chr8:124574966..124577834-chr8:124674515..124676204,2	MCF-7	breast:
4	chr8:124673351..124678204-chr8:124678247..124683296,7	MCF-7	breast:
5	chr8:124674966..124677669-chr8:124704647..124706640,2	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	0.87[ASN][1000 genomes]
rs10505439	0.88[ASN][1000 genomes]
rs10956143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16898668	0.80[ASN][1000 genomes]
rs16898685	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16898686	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16898687	0.90[ASN][1000 genomes]
rs16898689	0.91[ASN][1000 genomes]
rs16898691	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4367519	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs56737136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58763139	0.87[ASN][1000 genomes]
rs61264957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62518569	0.91[ASN][1000 genomes]
rs66970129	0.87[ASN][1000 genomes]
rs72711231	0.85[ASN][1000 genomes]
rs72711243	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72711245	0.98[ASN][1000 genomes]
rs72711246	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72711249	1.00[ASN][1000 genomes]
rs72713116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9642868	0.85[ASN][1000 genomes]
rs9643183	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124666800-124678600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:124668400-124680800	Weak transcription	Fetal Heart	heart
3	chr8:124670400-124678400	Weak transcription	Right Atrium	heart
4	chr8:124671000-124681000	Weak transcription	Brain Substantia Nigra	brain
5	chr8:124671200-124675800	Weak transcription	Fetal Intestine Small	intestine
6	chr8:124671200-124681800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr8:124671400-124676400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:124671400-124681000	Weak transcription	HSMM	muscle
9	chr8:124671800-124681000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:124673400-124677800	Enhancers	HMEC	breast
11	chr8:124673400-124684200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr8:124673600-124675200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:124673600-124675200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:124673600-124675200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr8:124673600-124676400	Enhancers	Psoas Muscle	Psoas
16	chr8:124673600-124677000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:124673600-124677000	Enhancers	NHEK	skin
18	chr8:124673600-124677200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:124673800-124675200	Enhancers	Osteobl	bone
20	chr8:124674000-124677000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:124674200-124675200	Enhancers	Hela-S3	cervix
22	chr8:124674400-124675200	Enhancers	Placenta	Placenta
23	chr8:124674400-124675200	Enhancers	HSMMtube	muscle
24	chr8:124674400-124678200	Weak transcription	Fetal Muscle Leg	muscle
25	chr8:124674400-124680200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr8:124675000-124675200	Enhancers	Esophagus	oesophagus
27	chr8:124675000-124676200	Enhancers	Stomach Smooth Muscle	stomach
28	chr8:124675000-124677600	Weak transcription	Aorta	Aorta
29	chr8:124675000-124680400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:124675000-124680400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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