Variant report

Variant	rs72718711
Chromosome Location	chr1:85310173-85310174
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	chr1:85301031..85302950-chr1:85309878..85312454,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12062882	1.00[EUR][1000 genomes]
rs12088935	1.00[EUR][1000 genomes]
rs55643822	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55694361	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55706573	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55740600	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55896911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56105173	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56268235	1.00[AFR][1000 genomes]
rs72718712	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718713	1.00[EUR][1000 genomes]
rs72718714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718718	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718720	1.00[AMR][1000 genomes]
rs72718722	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718727	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718728	1.00[EUR][1000 genomes]
rs72718732	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830448	chr1:85294094-85491110	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85289400-85330800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr1:85296600-85312800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:85304000-85313200	Weak transcription	Gastric	stomach
4	chr1:85305800-85313000	Weak transcription	Left Ventricle	heart
5	chr1:85305800-85313000	Weak transcription	Pancreas	Pancrea
6	chr1:85306200-85316000	Enhancers	Fetal Heart	heart
7	chr1:85307800-85311400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:85308000-85310200	Enhancers	Fetal Lung	lung
9	chr1:85308000-85312800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:85309000-85310200	Enhancers	Fetal Stomach	stomach
11	chr1:85309000-85312000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:85309000-85312800	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:85309000-85313000	Weak transcription	Right Atrium	heart
14	chr1:85309000-85313000	Weak transcription	Right Ventricle	heart
15	chr1:85309200-85312800	Weak transcription	Stomach Mucosa	stomach
16	chr1:85309400-85312200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:85309400-85312200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:85309600-85311600	Weak transcription	Liver	Liver
19	chr1:85309600-85312000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:85309600-85312200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:85309600-85313400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:85309800-85311600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:85310000-85310200	Enhancers	Fetal Kidney	kidney
24	chr1:85310000-85311600	Weak transcription	HMEC	breast
25	chr1:85310000-85311800	Weak transcription	NHEK	skin
26	chr1:85310000-85312600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:85310000-85312600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr1:85310000-85313000	Weak transcription	Esophagus	oesophagus

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