Variant report

Variant	rs58490247
Chromosome Location	chr14:32944746-32944747
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	chr14:32943721..32945692-chr14:32947594..32949862,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1951193	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951195	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951196	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1957027	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1957028	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1957029	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1957030	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58923983	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60217119	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60993482	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61982968	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61982981	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61982982	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61982983	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61982984	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571526	0.92[EUR][1000 genomes]
rs7149658	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs745562	0.84[AMR][1000 genomes]
rs8014037	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014051	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8017798	0.91[EUR][1000 genomes]
rs8018953	0.94[EUR][1000 genomes]
rs941751	0.84[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	esv2758352	chr14:32858480-33016442	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv2759978	chr14:32858480-33016442	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv901595	chr14:32928634-32961434	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32936400-32944800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:32938000-32947800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:32939400-32944800	Enhancers	Brain Angular Gyrus	brain
4	chr14:32941800-32945000	Enhancers	Brain Cingulate Gyrus	brain
5	chr14:32942000-32946000	Weak transcription	Right Ventricle	heart
6	chr14:32942000-32946600	Weak transcription	Esophagus	oesophagus
7	chr14:32942000-32947200	Weak transcription	Right Atrium	heart
8	chr14:32942400-32945200	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr14:32942400-32946600	Weak transcription	Fetal Brain Female	brain
10	chr14:32942600-32945000	Enhancers	Brain Substantia Nigra	brain
11	chr14:32942800-32944800	Enhancers	HMEC	breast
12	chr14:32943000-32945800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr14:32943000-32946000	Weak transcription	Left Ventricle	heart
14	chr14:32943000-32947000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:32943000-32947000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:32943200-32945200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr14:32943200-32945800	Weak transcription	Fetal Heart	heart
18	chr14:32943200-32945800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr14:32943200-32946400	Weak transcription	Aorta	Aorta
20	chr14:32943200-32946400	Weak transcription	Fetal Brain Male	brain
21	chr14:32943200-32947200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:32943200-32947200	Weak transcription	Osteobl	bone
23	chr14:32943200-32947400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:32943200-32950800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:32943400-32945800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:32943600-32945600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:32943600-32945600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr14:32943600-32946600	Weak transcription	Fetal Muscle Leg	muscle
29	chr14:32943600-32947000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:32943600-32947000	Weak transcription	NHLF	lung
31	chr14:32943600-32947200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:32943600-32947200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr14:32943800-32945800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr14:32944200-32944800	Enhancers	NHEK	skin
35	chr14:32944200-32946000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:32944200-32948000	Enhancers	Brain Hippocampus Middle	brain
37	chr14:32944400-32945000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:32944400-32945800	Weak transcription	NHDF-Ad	bronchial
39	chr14:32944600-32944800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:32944600-32945600	Weak transcription	Colon Smooth Muscle	Colon
41	chr14:32944600-32945800	Weak transcription	Brain Anterior Caudate	brain
42	chr14:32944600-32947000	Weak transcription	HSMM	muscle
43	chr14:32944600-32947000	Weak transcription	HSMMtube	muscle

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