Variant report

Variant	rs72713192
Chromosome Location	chr15:45929970-45929971
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs55634197	1.00[AFR][1000 genomes]
rs55696838	1.00[AFR][1000 genomes]
rs56179745	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72713190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715085	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904188	chr15:45801035-45941689	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv904189	chr15:45821158-46298458	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv904190	chr15:45892672-45960897	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	27 gene(s)	inside rSNPs	n/a
4	nsv904191	chr15:45902779-46381874	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45927400-45931000	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr15:45927600-45930400	Enhancers	Fetal Heart	heart
3	chr15:45927800-45931800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr15:45927800-45935400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr15:45928200-45930000	Enhancers	Left Ventricle	heart
6	chr15:45928200-45931000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr15:45928200-45934200	Weak transcription	Ovary	ovary
8	chr15:45928800-45930000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr15:45928800-45930200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr15:45928800-45930200	Flanking Active TSS	HMEC	breast
11	chr15:45928800-45930400	Flanking Active TSS	NHDF-Ad	bronchial
12	chr15:45928800-45930600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr15:45928800-45930800	Flanking Active TSS	GM12878-XiMat	blood
14	chr15:45929000-45930200	Enhancers	Brain Germinal Matrix	brain
15	chr15:45929000-45930200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr15:45929000-45930200	Flanking Active TSS	Hela-S3	cervix
17	chr15:45929000-45930400	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr15:45929000-45930400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr15:45929000-45930400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr15:45929000-45930400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr15:45929000-45930400	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr15:45929000-45930800	Enhancers	Fetal Muscle Leg	muscle
23	chr15:45929000-45939000	Enhancers	Stomach Mucosa	stomach
24	chr15:45929200-45930000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr15:45929200-45930000	Enhancers	Right Ventricle	heart
26	chr15:45929200-45930200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr15:45929200-45930200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr15:45929200-45930200	Enhancers	Brain Angular Gyrus	brain
29	chr15:45929200-45930200	Enhancers	Brain Cingulate Gyrus	brain
30	chr15:45929200-45930200	Flanking Active TSS	HepG2	liver
31	chr15:45929200-45930200	Enhancers	K562	blood
32	chr15:45929200-45930400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr15:45929200-45930400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr15:45929200-45930400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr15:45929200-45930600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr15:45929200-45930600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr15:45929200-45930800	Enhancers	Fetal Muscle Trunk	muscle
38	chr15:45929200-45930800	Enhancers	Placenta	Placenta
39	chr15:45929200-45931000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr15:45929400-45930000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr15:45929400-45930000	Active TSS	Aorta	Aorta
42	chr15:45929400-45930000	Enhancers	Small Intestine	intestine
43	chr15:45929400-45930000	Enhancers	Dnd41	blood
44	chr15:45929400-45930200	Flanking Active TSS	Fetal Lung	lung
45	chr15:45929400-45930200	Flanking Active TSS	Osteobl	bone
46	chr15:45929400-45930400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr15:45929400-45930400	Weak transcription	Lung	lung
48	chr15:45929400-45930400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr15:45929400-45930400	Flanking Active TSS	NHEK	skin
50	chr15:45929400-45930600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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