Variant report

Variant	rs72823532
Chromosome Location	chr17:46111931-46111932
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	chr17:46111908..46112443-chr17:46151462..46152377,3	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12051	0.98[ASN][1000 genomes]
rs12600980	0.86[EUR][1000 genomes]
rs12601350	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12602131	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12602670	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12946143	0.89[EUR][1000 genomes]
rs1473117	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16951519	0.93[EUR][1000 genomes]
rs2023885	0.95[EUR][1000 genomes]
rs2229369	0.95[EUR][1000 genomes]
rs2240119	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2240120	0.95[EUR][1000 genomes]
rs2240121	0.89[EUR][1000 genomes]
rs2285860	0.85[EUR][1000 genomes]
rs2325783	0.95[EUR][1000 genomes]
rs3785737	0.83[EUR][1000 genomes]
rs4995899	0.93[EUR][1000 genomes]
rs55920502	0.93[EUR][1000 genomes]
rs55982711	0.85[EUR][1000 genomes]
rs58554000	0.87[AFR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72823519	0.85[EUR][1000 genomes]
rs72823528	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823533	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs757353	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8066049	0.82[EUR][1000 genomes]
rs8071199	0.83[EUR][1000 genomes]
rs978263	0.86[EUR][1000 genomes]
rs9890691	0.83[EUR][1000 genomes]
rs9898218	0.98[ASN][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	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46104200-46113800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr17:46104400-46114000	Weak transcription	Liver	Liver
3	chr17:46104400-46114000	Weak transcription	Right Ventricle	heart
4	chr17:46104400-46114200	Weak transcription	Brain Substantia Nigra	brain
5	chr17:46104600-46113800	Weak transcription	HSMM	muscle
6	chr17:46104600-46114000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr17:46104600-46114000	Weak transcription	Brain Hippocampus Middle	brain
8	chr17:46104800-46113800	Weak transcription	NHDF-Ad	bronchial
9	chr17:46104800-46114000	Weak transcription	HSMMtube	muscle
10	chr17:46105000-46113800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr17:46105400-46114000	Weak transcription	K562	blood
12	chr17:46105600-46114000	Weak transcription	Pancreas	Pancrea
13	chr17:46108200-46113200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr17:46108400-46113800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr17:46108400-46114000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr17:46108400-46114000	Weak transcription	Adipose Nuclei	Adipose
17	chr17:46108400-46114000	Weak transcription	NH-A	brain
18	chr17:46108400-46114200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr17:46108400-46114200	Weak transcription	Brain Anterior Caudate	brain
20	chr17:46108400-46114200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr17:46108400-46114200	Weak transcription	Esophagus	oesophagus
22	chr17:46108600-46113800	Weak transcription	Colon Smooth Muscle	Colon
23	chr17:46109000-46112600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr17:46109200-46112600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr17:46109600-46112600	Strong transcription	Osteobl	bone
26	chr17:46110400-46114000	Weak transcription	Ovary	ovary
27	chr17:46110400-46114000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr17:46111200-46113800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr17:46111200-46113800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr17:46111200-46114000	Weak transcription	Fetal Stomach	stomach
31	chr17:46111200-46114200	Weak transcription	Aorta	Aorta
32	chr17:46111400-46113600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr17:46111400-46113800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr17:46111400-46113800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr17:46111400-46113800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr17:46111400-46113800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr17:46111400-46113800	Weak transcription	NHLF	lung
38	chr17:46111400-46114000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr17:46111400-46114000	Weak transcription	Placenta	Placenta
40	chr17:46111400-46114200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr17:46111400-46114200	Weak transcription	Spleen	Spleen
42	chr17:46111600-46113400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr17:46111600-46113800	Weak transcription	Fetal Muscle Leg	muscle
44	chr17:46111800-46114000	Weak transcription	Fetal Muscle Trunk	muscle

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