Variant report

Variant	rs72598569
Chromosome Location	chr7:28004953-28004954
allele	A/C
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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs192254	0.84[EUR][1000 genomes]
rs253310	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs38500	0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs38502	0.83[ASN][1000 genomes]
rs38504	0.80[ASN][1000 genomes]
rs38511	0.80[AMR][1000 genomes]
rs38513	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6969285	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72598573	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27942400-28005600	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr7:27980400-28017200	Weak transcription	Aorta	Aorta
3	chr7:27989600-28006800	Weak transcription	Right Ventricle	heart
4	chr7:27992000-28013400	Weak transcription	Left Ventricle	heart
5	chr7:27995400-28006000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr7:27998400-28015000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr7:27999000-28005400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr7:28000400-28005400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:28000400-28005400	Weak transcription	Brain Angular Gyrus	brain
10	chr7:28000600-28005000	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:28000600-28006000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:28000600-28019400	Weak transcription	Pancreas	Pancrea
13	chr7:28000600-28021600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:28001000-28011200	Weak transcription	Brain Substantia Nigra	brain
15	chr7:28001000-28013400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:28001400-28005400	Weak transcription	Brain Hippocampus Middle	brain
17	chr7:28001600-28005400	Weak transcription	Brain Anterior Caudate	brain
18	chr7:28001800-28005800	Weak transcription	Primary B cells from cord blood	blood
19	chr7:28002200-28005000	Enhancers	Fetal Brain Male	brain
20	chr7:28002200-28005400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:28002200-28005400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr7:28002200-28011400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:28002600-28005400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:28002600-28005400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:28002600-28016800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:28002800-28005000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:28002800-28034600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:28004400-28006400	Enhancers	NHDF-Ad	bronchial
29	chr7:28004800-28006200	Enhancers	Rectal Smooth Muscle	rectum

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