Variant report

Variant	rs72959507
Chromosome Location	chr11:70863704-70863705
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:70862325..70865050-chr11:70958475..70960987,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11232300	0.84[EUR][1000 genomes]
rs11232301	0.83[EUR][1000 genomes]
rs11232304	0.83[EUR][1000 genomes]
rs11232305	0.81[EUR][1000 genomes]
rs12271307	0.80[EUR][1000 genomes]
rs12273513	0.83[EUR][1000 genomes]
rs12273863	0.83[EUR][1000 genomes]
rs12274896	0.82[EUR][1000 genomes]
rs12282822	0.80[EUR][1000 genomes]
rs12289383	0.83[EUR][1000 genomes]
rs28811899	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28876818	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34402475	0.87[EUR][1000 genomes]
rs35136877	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4348928	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944282	0.92[ASN][1000 genomes]
rs55726773	0.83[EUR][1000 genomes]
rs55753840	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56035448	0.83[EUR][1000 genomes]
rs56144630	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56181437	0.87[EUR][1000 genomes]
rs56291131	0.86[EUR][1000 genomes]
rs56341503	0.83[EUR][1000 genomes]
rs56393668	0.85[EUR][1000 genomes]
rs58093994	0.83[EUR][1000 genomes]
rs59052115	0.85[EUR][1000 genomes]
rs60079515	0.85[EUR][1000 genomes]
rs60524701	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61582992	0.86[EUR][1000 genomes]
rs66521164	0.83[EUR][1000 genomes]
rs7116150	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123599	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7123898	0.80[EUR][1000 genomes]
rs7125114	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72957115	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72957676	0.81[EUR][1000 genomes]
rs72957677	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72957679	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72957686	0.81[EUR][1000 genomes]
rs72957688	0.81[EUR][1000 genomes]
rs72957690	0.83[EUR][1000 genomes]
rs72957691	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72957699	1.00[ASN][1000 genomes]
rs72959503	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959509	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959517	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959521	0.87[EUR][1000 genomes]
rs72959524	0.86[EUR][1000 genomes]
rs7931474	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7933912	0.80[EUR][1000 genomes]
rs7949824	0.80[EUR][1000 genomes]
rs7950101	0.80[EUR][1000 genomes]
rs9888294	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][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	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:70832200-70864400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr11:70858200-70891000	Weak transcription	Gastric	stomach
3	chr11:70858600-70865400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:70860600-70864400	Weak transcription	Fetal Kidney	kidney
5	chr11:70862600-70864200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:70863000-70864000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:70863400-70863800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:70863400-70863800	Enhancers	Ovary	ovary
9	chr11:70863400-70864000	Flanking Active TSS	HepG2	liver
10	chr11:70863600-70863800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
11	chr11:70863600-70863800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
12	chr11:70863600-70863800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:70863600-70863800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:70863600-70863800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr11:70863600-70863800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:70863600-70863800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:70863600-70863800	Enhancers	Brain Angular Gyrus	brain
18	chr11:70863600-70863800	Enhancers	Brain Anterior Caudate	brain
19	chr11:70863600-70863800	Enhancers	Brain Cingulate Gyrus	brain
20	chr11:70863600-70863800	Enhancers	Brain Hippocampus Middle	brain
21	chr11:70863600-70863800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr11:70863600-70863800	Flanking Active TSS	Fetal Intestine Large	intestine
23	chr11:70863600-70863800	Flanking Active TSS	Pancreas	Pancrea
24	chr11:70863600-70863800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
25	chr11:70863600-70863800	Active TSS	NHLF	lung
26	chr11:70863600-70863800	Enhancers	Osteobl	bone
27	chr11:70863600-70864000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:70863600-70864000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr11:70863600-70864000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:70863600-70864000	Flanking Active TSS	Liver	Liver
31	chr11:70863600-70864000	Enhancers	Brain Substantia Nigra	brain
32	chr11:70863600-70864000	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr11:70863600-70864000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr11:70863600-70864000	Enhancers	Placenta Amnion	Placenta Amnion
35	chr11:70863600-70864000	Enhancers	HSMM	muscle
36	chr11:70863600-70864200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:70863600-70864200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
38	chr11:70863600-70864200	Bivalent/Poised TSS	NHEK	skin
39	chr11:70863600-70864400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:70863600-70864400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr11:70863600-70864400	Bivalent Enhancer	Fetal Muscle Leg	muscle
42	chr11:70863600-70864600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr11:70863600-70864600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr11:70863600-70864600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr11:70863600-70864600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:70863600-70864600	Flanking Active TSS	Fetal Intestine Small	intestine
47	chr11:70863600-70864600	Bivalent Enhancer	Fetal Stomach	stomach
48	chr11:70863600-70864600	Flanking Active TSS	A549	lung
49	chr11:70863600-70864600	Enhancers	HMEC	breast
50	chr11:70863600-70864800	Enhancers	Rectal Mucosa Donor 29	rectum

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