Variant report

Variant	rs72725178
Chromosome Location	chr1:94531081-94531082
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94529817..94533865-chr1:94534670..94536843,3	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17392507	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs41292683	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4147835	0.87[EUR][1000 genomes]
rs55712710	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56197337	0.87[EUR][1000 genomes]
rs56375042	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6658767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72725166	0.83[AMR][1000 genomes]
rs72725167	0.87[EUR][1000 genomes]
rs72725169	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72725182	1.00[AMR][1000 genomes];1.00[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	nsv871172	chr1:94504545-94535546	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv871057	chr1:94513142-94577286	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94521000-94534400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:94522200-94533800	Weak transcription	Aorta	Aorta
3	chr1:94522600-94533200	Weak transcription	Gastric	stomach
4	chr1:94522800-94533400	Weak transcription	Stomach Mucosa	stomach
5	chr1:94523200-94533600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:94524600-94531200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:94526200-94533600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:94527000-94531200	Enhancers	Placenta	Placenta
9	chr1:94527600-94532200	Weak transcription	Thymus	Thymus
10	chr1:94527600-94534200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr1:94527800-94534400	Weak transcription	HSMMtube	muscle
12	chr1:94528000-94533000	Weak transcription	HMEC	breast
13	chr1:94528000-94533200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:94528000-94533800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:94528000-94534400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:94528200-94533000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:94529000-94533600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:94529000-94533600	Weak transcription	HSMM	muscle
19	chr1:94529200-94533600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:94529400-94532000	Weak transcription	Fetal Thymus	thymus
21	chr1:94529400-94532200	Weak transcription	NH-A	brain
22	chr1:94529400-94533000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:94529400-94533600	Weak transcription	Fetal Intestine Large	intestine
24	chr1:94529400-94533800	Weak transcription	Brain Hippocampus Middle	brain
25	chr1:94529600-94531600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:94529600-94534400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:94529800-94533000	Weak transcription	A549	lung
28	chr1:94529800-94533000	Weak transcription	Osteobl	bone
29	chr1:94529800-94533800	Weak transcription	Brain Substantia Nigra	brain
30	chr1:94529800-94534000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:94529800-94534400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:94530000-94531600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:94530000-94533200	Weak transcription	NHLF	lung
34	chr1:94530000-94533600	Weak transcription	Lung	lung
35	chr1:94530000-94533600	Weak transcription	Psoas Muscle	Psoas
36	chr1:94530000-94533600	Weak transcription	Right Atrium	heart
37	chr1:94530000-94534000	Weak transcription	Colon Smooth Muscle	Colon
38	chr1:94530000-94534000	Weak transcription	Fetal Lung	lung
39	chr1:94530000-94534200	Weak transcription	Small Intestine	intestine
40	chr1:94530000-94534400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:94530000-94534400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr1:94530000-94535600	Weak transcription	Esophagus	oesophagus
43	chr1:94530000-94537600	Weak transcription	Fetal Heart	heart
44	chr1:94530200-94531400	Weak transcription	HUVEC	blood vessel
45	chr1:94530200-94533000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr1:94530200-94533000	Weak transcription	HepG2	liver
47	chr1:94530200-94533600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:94530200-94533800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr1:94530200-94534200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:94530200-94534400	Weak transcription	Ovary	ovary

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