Variant report

Variant	rs57224848
Chromosome Location	chr15:79049146-79049147
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:79047462..79049976-chr15:79054585..79057196,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12439049	0.91[EUR][1000 genomes]
rs2291196	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3743065	0.97[EUR][1000 genomes]
rs3743068	0.89[EUR][1000 genomes]
rs3861181	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59888683	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59934757	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7176070	0.85[ASN][1000 genomes]
rs7176492	0.91[EUR][1000 genomes]
rs7177143	0.97[EUR][1000 genomes]
rs8024939	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	nsv904431	chr15:79006442-79155088	Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79040600-79060000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:79042800-79055400	Enhancers	Right Ventricle	heart
3	chr15:79043400-79049200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr15:79043400-79049200	Weak transcription	NHLF	lung
5	chr15:79043400-79049400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:79043400-79049600	Weak transcription	Pancreas	Pancrea
7	chr15:79043600-79049600	Weak transcription	Colonic Mucosa	Colon
8	chr15:79043600-79049800	Weak transcription	Fetal Brain Female	brain
9	chr15:79043600-79077800	Weak transcription	Brain Germinal Matrix	brain
10	chr15:79043800-79049200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr15:79043800-79049200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr15:79043800-79049200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr15:79043800-79049600	Weak transcription	Lung	lung
14	chr15:79043800-79052000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr15:79043800-79053400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr15:79044000-79049200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr15:79044000-79049200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr15:79044000-79049200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr15:79044000-79049600	Weak transcription	Stomach Mucosa	stomach
20	chr15:79044000-79050000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr15:79044000-79052600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr15:79044200-79049200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr15:79044200-79049200	Weak transcription	Fetal Thymus	thymus
24	chr15:79044200-79059000	Enhancers	Fetal Muscle Trunk	muscle
25	chr15:79044400-79049400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr15:79045000-79055800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr15:79045000-79059000	Enhancers	Fetal Muscle Leg	muscle
28	chr15:79045200-79049200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr15:79045600-79049400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr15:79046000-79049200	Enhancers	HSMM	muscle
31	chr15:79046200-79049200	Weak transcription	Spleen	Spleen
32	chr15:79046200-79054600	Enhancers	Fetal Heart	heart
33	chr15:79046400-79063200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:79046600-79049400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:79046800-79049200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr15:79046800-79050200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr15:79047000-79053200	Enhancers	Stomach Smooth Muscle	stomach
38	chr15:79047200-79053600	Enhancers	NHDF-Ad	bronchial
39	chr15:79047200-79054600	Enhancers	HSMMtube	muscle
40	chr15:79047400-79049400	Weak transcription	Ovary	ovary
41	chr15:79047600-79049200	Weak transcription	Right Atrium	heart
42	chr15:79047600-79049600	Weak transcription	Fetal Lung	lung
43	chr15:79048000-79049200	Enhancers	Osteobl	bone
44	chr15:79048000-79050200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr15:79048000-79050200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr15:79048000-79050200	Enhancers	HMEC	breast
47	chr15:79048200-79049200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr15:79048200-79049200	Weak transcription	Colon Smooth Muscle	Colon
49	chr15:79048200-79049600	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr15:79048200-79050200	Enhancers	NH-A	brain

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