Variant report

Variant	rs72598573
Chromosome Location	chr7:28009291-28009292
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12671866	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs192254	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs253310	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs38500	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs38502	0.80[ASN][1000 genomes]
rs38511	0.83[AMR][1000 genomes]
rs38513	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs38515	0.80[AMR][1000 genomes]
rs6969285	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72598569	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1024819	chr7:27949955-28020969	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27980400-28017200	Weak transcription	Aorta	Aorta
2	chr7:27992000-28013400	Weak transcription	Left Ventricle	heart
3	chr7:27998400-28015000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr7:28000600-28019400	Weak transcription	Pancreas	Pancrea
5	chr7:28000600-28021600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:28001000-28011200	Weak transcription	Brain Substantia Nigra	brain
7	chr7:28001000-28013400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:28002200-28011400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:28002600-28016800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:28002800-28034600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:28005800-28010600	Weak transcription	Brain Anterior Caudate	brain
12	chr7:28006200-28012800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:28006200-28015600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr7:28006200-28019200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:28006200-28024800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:28006400-28010800	Weak transcription	Brain Angular Gyrus	brain
17	chr7:28006400-28011200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:28006400-28011600	Weak transcription	Primary T cells from cord blood	blood
19	chr7:28006400-28013400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr7:28006400-28031800	Weak transcription	NHDF-Ad	bronchial
21	chr7:28006600-28016000	Weak transcription	Colon Smooth Muscle	Colon
22	chr7:28006800-28011800	Weak transcription	Brain Hippocampus Middle	brain
23	chr7:28007000-28011600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:28007000-28011800	Weak transcription	Right Ventricle	heart
25	chr7:28007000-28019200	Weak transcription	Esophagus	oesophagus
26	chr7:28008200-28010800	Weak transcription	Primary B cells from peripheral blood	blood
27	chr7:28008200-28013400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:28008400-28011600	Weak transcription	Small Intestine	intestine
29	chr7:28008600-28009800	Strong transcription	Primary B cells from cord blood	blood
30	chr7:28008800-28009400	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr7:28008800-28009800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr7:28009000-28011800	Weak transcription	Brain Inferior Temporal Lobe	brain

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