Variant report

Variant	rs72718722
Chromosome Location	chr1:85314719-85314720
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	chr1:85299331..85301423-chr1:85313986..85316140,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

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]
rs72718711	1.00[AMR][1000 genomes];1.00[EUR][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]
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]

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:46 , 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	chr1:85306200-85316000	Enhancers	Fetal Heart	heart
3	chr1:85311600-85317600	Enhancers	HMEC	breast
4	chr1:85313000-85315600	Enhancers	Right Ventricle	heart
5	chr1:85313000-85332800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:85313400-85315400	Weak transcription	Fetal Intestine Large	intestine
7	chr1:85313400-85319200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:85313400-85320400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:85313600-85317200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:85313600-85317400	Weak transcription	HSMMtube	muscle
11	chr1:85313600-85330600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:85313600-85357200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:85313800-85315200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:85313800-85315800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:85313800-85316400	Weak transcription	NHLF	lung
16	chr1:85313800-85316600	Weak transcription	NHDF-Ad	bronchial
17	chr1:85313800-85317000	Weak transcription	Lung	lung
18	chr1:85313800-85317000	Weak transcription	Hela-S3	cervix
19	chr1:85313800-85317200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:85313800-85317200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:85313800-85317200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:85313800-85317200	Weak transcription	NH-A	brain
23	chr1:85313800-85319000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:85313800-85319000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:85314000-85315800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:85314000-85316400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:85314000-85317400	Weak transcription	Esophagus	oesophagus
28	chr1:85314000-85319000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr1:85314000-85319000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:85314000-85319000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:85314000-85319200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr1:85314000-85319200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:85314000-85330400	Weak transcription	Pancreas	Pancrea
34	chr1:85314200-85315200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:85314200-85315200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:85314200-85317000	Weak transcription	Osteobl	bone
37	chr1:85314200-85319600	Weak transcription	Stomach Mucosa	stomach
38	chr1:85314400-85315400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:85314400-85316600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:85314400-85319000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr1:85314400-85319200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:85314400-85320400	Weak transcription	Left Ventricle	heart
43	chr1:85314600-85315000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr1:85314600-85316000	Weak transcription	NHEK	skin
45	chr1:85314600-85319200	Weak transcription	Colonic Mucosa	Colon
46	chr1:85314600-85328400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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