Variant report

Variant	rs1972272
Chromosome Location	chr21:45426129-45426130
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45424108..45427094-chr21:45429214..45433740,6	MCF-7	breast:
2	chr21:45418903..45427442-chr21:45428252..45434057,14	K562	blood:
3	chr21:45406297..45409169-chr21:45425918..45428099,2	K562	blood:
4	chr21:45425859..45427417-chr21:45555901..45557986,2	K562	blood:
5	chr21:45412059..45414701-chr21:45426081..45427962,2	MCF-7	breast:
6	chr21:45424075..45428329-chr21:45429295..45434139,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160218	Chromatin interaction
ENSG00000160221	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13047214	0.81[EUR][1000 genomes]
rs13048791	0.94[EUR][1000 genomes]
rs13049059	0.99[ASN][1000 genomes]
rs13052507	0.90[EUR][1000 genomes]
rs17004630	0.81[EUR][1000 genomes]
rs2276532	0.81[EUR][1000 genomes]
rs2299817	0.81[EUR][1000 genomes]
rs4819361	0.93[EUR][1000 genomes]
rs58008499	0.94[EUR][1000 genomes]
rs62227166	0.81[EUR][1000 genomes]
rs62229734	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62229738	1.00[ASN][1000 genomes]
rs7275722	0.81[EUR][1000 genomes]
rs7276709	0.81[EUR][1000 genomes]
rs8131617	0.97[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	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv913888	chr21:45351206-45428278	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1063752	chr21:45406095-45460342	Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS 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	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1972272	PWP2	cis	Muscle Skeletal	GTEx

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45421400-45430400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr21:45421400-45430600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr21:45421600-45431000	Weak transcription	Brain Angular Gyrus	brain
4	chr21:45421600-45431000	Weak transcription	Brain Substantia Nigra	brain
5	chr21:45421800-45426200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr21:45421800-45430200	Weak transcription	Brain Hippocampus Middle	brain
7	chr21:45423400-45431000	Weak transcription	Thymus	Thymus
8	chr21:45424800-45426400	Enhancers	Liver	Liver
9	chr21:45425400-45426400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr21:45425400-45426400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr21:45425400-45426400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr21:45425400-45426400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr21:45425400-45426400	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr21:45425400-45426600	Enhancers	HepG2	liver
15	chr21:45425400-45426600	Enhancers	HSMM	muscle
16	chr21:45425400-45427000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr21:45425400-45427000	Enhancers	Stomach Smooth Muscle	stomach
18	chr21:45425400-45427000	Enhancers	HMEC	breast
19	chr21:45425400-45428000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr21:45425600-45426400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr21:45425600-45426400	Enhancers	Rectal Smooth Muscle	rectum
22	chr21:45425600-45426800	Enhancers	A549	lung
23	chr21:45425600-45427000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr21:45425600-45427000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr21:45425600-45427000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr21:45425600-45427000	Enhancers	HUVEC	blood vessel
27	chr21:45425600-45427000	Enhancers	NHEK	skin
28	chr21:45425600-45427000	Enhancers	NHLF	lung
29	chr21:45425600-45427600	Enhancers	NHDF-Ad	bronchial
30	chr21:45425600-45427800	Enhancers	HSMMtube	muscle
31	chr21:45425600-45428200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr21:45425600-45428400	Enhancers	NH-A	brain
33	chr21:45425800-45426200	Enhancers	Placenta	Placenta
34	chr21:45425800-45426400	Enhancers	Colon Smooth Muscle	Colon
35	chr21:45425800-45426400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr21:45425800-45427000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr21:45425800-45427000	Flanking Active TSS	Osteobl	bone
38	chr21:45426000-45426200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr21:45426000-45426400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr21:45426000-45426400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr21:45426000-45426800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr21:45426000-45426800	Enhancers	Adipose Nuclei	Adipose
43	chr21:45426000-45427000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr21:45426000-45427000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr21:45426000-45427000	Enhancers	Ovary	ovary
46	chr21:45426000-45427000	Enhancers	Hela-S3	cervix

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