Variant report

Variant	rs72730583
Chromosome Location	chr15:75351630-75351631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:75349470..75352172-chr15:75492859..75495623,2	MCF-7	breast:
2	chr15:75351256..75353866-chr15:75357532..75359933,2	K562	blood:

Variant related genes	Relation type
ENSG00000167173	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10851877	0.80[ASN][1000 genomes]
rs1108059	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12148425	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1867147	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2289583	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2304901	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34180494	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4519311	0.88[ASN][1000 genomes]
rs55655136	0.86[AMR][1000 genomes]
rs55922358	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56936958	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730585	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730586	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730587	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[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	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv457205	chr15:75336729-75447773	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv569994	chr15:75336729-75447773	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75337200-75353600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr15:75339600-75351800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr15:75340000-75353400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr15:75340000-75353400	Weak transcription	NHDF-Ad	bronchial
5	chr15:75340000-75360600	Weak transcription	Gastric	stomach
6	chr15:75340200-75351800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr15:75340200-75353000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr15:75340200-75353600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr15:75340200-75359400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr15:75340400-75353800	Weak transcription	Liver	Liver
11	chr15:75340800-75357600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr15:75341000-75356400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:75341200-75357800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr15:75342000-75357200	Weak transcription	Small Intestine	intestine
15	chr15:75342200-75357600	Weak transcription	Aorta	Aorta
16	chr15:75342400-75357400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr15:75342600-75353200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:75342600-75357000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr15:75342600-75357600	Weak transcription	Hela-S3	cervix
20	chr15:75342600-75364800	Weak transcription	Primary T cells from cord blood	blood
21	chr15:75342800-75357400	Weak transcription	Thymus	Thymus
22	chr15:75342800-75361600	Weak transcription	Brain Hippocampus Middle	brain
23	chr15:75343000-75354000	Weak transcription	Brain Angular Gyrus	brain
24	chr15:75343000-75354600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr15:75343200-75357400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr15:75343800-75353600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr15:75344000-75353800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr15:75344000-75354000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr15:75344200-75353800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr15:75344400-75355000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr15:75344600-75354400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr15:75346400-75353800	Weak transcription	Colonic Mucosa	Colon
33	chr15:75346400-75353800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr15:75346400-75361600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr15:75347000-75352600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr15:75347000-75356200	Weak transcription	Ovary	ovary
37	chr15:75347000-75364000	Weak transcription	Brain Substantia Nigra	brain
38	chr15:75347200-75354000	Weak transcription	Brain Anterior Caudate	brain
39	chr15:75348000-75353400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr15:75349000-75353000	Weak transcription	GM12878-XiMat	blood
41	chr15:75350400-75352000	Enhancers	Primary hematopoietic stem cells	blood
42	chr15:75350600-75357000	Weak transcription	Adipose Nuclei	Adipose
43	chr15:75350800-75352200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr15:75351000-75353200	Weak transcription	Osteobl	bone
45	chr15:75351000-75353400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr15:75351000-75353600	Weak transcription	Right Atrium	heart
47	chr15:75351000-75354400	Weak transcription	Lung	lung
48	chr15:75351000-75355000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr15:75351000-75357400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr15:75351000-75358200	Weak transcription	Muscle Satellite Cultured Cells	--

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