Variant report

Variant	rs72747142
Chromosome Location	chr15:57114233-57114234
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:57106197..57110196-chr15:57111997..57118015,6	K562	blood:
2	chr15:57114054..57115575-chr15:57117374..57119055,2	MCF-7	breast:
3	chr15:57107595..57111663-chr15:57111716..57115001,4	K562	blood:
4	chr15:57113666..57114534-chr15:57505943..57506509,2	K562	blood:
5	chr15:57113632..57114331-chr15:57161502..57162048,2	K562	blood:
6	chr15:56788456..56789162-chr15:57113822..57114589,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140262	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72747168	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3422474	chr15:56867190-57244330	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv569576	chr15:57012816-57126917	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv833020	chr15:57055947-57216068	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv457162	chr15:57083006-57225766	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv569577	chr15:57083006-57225766	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57110000-57118600	Weak transcription	Aorta	Aorta
2	chr15:57110000-57138600	Weak transcription	Left Ventricle	heart
3	chr15:57110600-57114600	Weak transcription	Fetal Brain Male	brain
4	chr15:57111600-57114600	Enhancers	Fetal Thymus	thymus
5	chr15:57112400-57114600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr15:57112600-57116600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr15:57113000-57130400	Weak transcription	Thymus	Thymus
8	chr15:57113400-57114600	Enhancers	Psoas Muscle	Psoas
9	chr15:57113600-57114400	Enhancers	Adipose Nuclei	Adipose
10	chr15:57113600-57114600	Enhancers	Brain Hippocampus Middle	brain
11	chr15:57113600-57114600	Enhancers	Fetal Muscle Leg	muscle
12	chr15:57113800-57114600	Enhancers	Brain Anterior Caudate	brain
13	chr15:57113800-57114600	Enhancers	Brain Substantia Nigra	brain
14	chr15:57113800-57114600	Enhancers	Colon Smooth Muscle	Colon
15	chr15:57113800-57115000	Enhancers	Fetal Heart	heart
16	chr15:57114000-57114400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr15:57114000-57114600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr15:57114000-57114600	Enhancers	Brain Cingulate Gyrus	brain
19	chr15:57114000-57114600	Enhancers	HUVEC	blood vessel
20	chr15:57114000-57114600	Enhancers	NHLF	lung
21	chr15:57114000-57114800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr15:57114000-57115400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr15:57114000-57117000	Enhancers	HSMMtube	muscle
24	chr15:57114200-57114400	Enhancers	Lung	lung
25	chr15:57114200-57114400	Enhancers	Stomach Smooth Muscle	stomach
26	chr15:57114200-57114600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr15:57114200-57114600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr15:57114200-57114600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr15:57114200-57114600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr15:57114200-57114600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr15:57114200-57114600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr15:57114200-57114600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr15:57114200-57114600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr15:57114200-57114600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr15:57114200-57114600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr15:57114200-57114600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr15:57114200-57114600	Enhancers	Brain Angular Gyrus	brain
38	chr15:57114200-57114600	Enhancers	Brain Germinal Matrix	brain
39	chr15:57114200-57114600	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr15:57114200-57114600	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr15:57114200-57114600	Enhancers	Esophagus	oesophagus
42	chr15:57114200-57114600	Enhancers	Fetal Kidney	kidney
43	chr15:57114200-57114600	Enhancers	Fetal Stomach	stomach
44	chr15:57114200-57114600	Enhancers	Ovary	ovary
45	chr15:57114200-57114600	Enhancers	Right Atrium	heart
46	chr15:57114200-57114600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr15:57114200-57114600	Enhancers	A549	lung
48	chr15:57114200-57114600	Enhancers	NH-A	brain
49	chr15:57114200-57114600	Enhancers	NHDF-Ad	bronchial
50	chr15:57114200-57114600	Enhancers	NHEK	skin

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