Variant report

Variant	rs58358220
Chromosome Location	chr13:51249814-51249815
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51248503..51250450-chr13:51256107..51258684,2	MCF-7	breast:
2	chr13:51245204..51247127-chr13:51248025..51250990,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs55735210	1.00[AMR][1000 genomes]
rs56143723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56225650	1.00[AMR][1000 genomes]
rs59155575	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
2	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753864	chr13:51136699-51375199	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr13:51243200-51251800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr13:51244800-51258200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr13:51245200-51252000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr13:51245800-51250000	Weak transcription	HUVEC	blood vessel
5	chr13:51246600-51253600	Enhancers	Fetal Thymus	thymus
6	chr13:51246800-51250000	Weak transcription	Fetal Intestine Small	intestine
7	chr13:51246800-51250600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:51246800-51250600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr13:51246800-51250600	Weak transcription	NHEK	skin
10	chr13:51247000-51250400	Weak transcription	NHDF-Ad	bronchial
11	chr13:51247200-51250000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr13:51247200-51250000	Weak transcription	Osteobl	bone
13	chr13:51247200-51250400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr13:51247200-51250400	Weak transcription	HMEC	breast
15	chr13:51247200-51250600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr13:51247200-51250600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr13:51247400-51250200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr13:51247400-51250400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:51247400-51250600	Weak transcription	Pancreas	Pancrea
20	chr13:51247400-51251200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr13:51247400-51260200	Weak transcription	HepG2	liver
22	chr13:51247600-51250000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr13:51247600-51250200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr13:51248000-51253400	Enhancers	Thymus	Thymus
25	chr13:51249200-51251000	Enhancers	Placenta	Placenta
26	chr13:51249600-51251600	Enhancers	Primary B cells from cord blood	blood
27	chr13:51249600-51251800	Enhancers	Fetal Intestine Large	intestine
28	chr13:51249600-51253400	Enhancers	Right Atrium	heart
29	chr13:51249800-51250000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr13:51249800-51250200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
31	chr13:51249800-51250400	Enhancers	Psoas Muscle	Psoas
32	chr13:51249800-51250400	Enhancers	Right Ventricle	heart
33	chr13:51249800-51250600	Enhancers	Esophagus	oesophagus
34	chr13:51249800-51250800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr13:51249800-51251400	Enhancers	Brain Cingulate Gyrus	brain
36	chr13:51249800-51251400	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr13:51249800-51251600	Enhancers	Adipose Nuclei	Adipose
38	chr13:51249800-51251600	Enhancers	Brain Hippocampus Middle	brain
39	chr13:51249800-51251600	Enhancers	Lung	lung
40	chr13:51249800-51251800	Enhancers	Primary B cells from peripheral blood	blood
41	chr13:51249800-51252200	Enhancers	Left Ventricle	heart
42	chr13:51249800-51253400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr13:51249800-51253400	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr13:51249800-51253400	Enhancers	Fetal Muscle Leg	muscle

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