Variant report

Variant	rs60560480
Chromosome Location	chr2:20615929-20615930
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20615126..20617019-chr2:20620144..20621829,2	K562	blood:
2	chr2:20605173..20606990-chr2:20613727..20616076,2	MCF-7	breast:
3	chr2:20605791..20608385-chr2:20615767..20618423,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12623511	0.83[ASN][1000 genomes]
rs1483566	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1483567	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1483568	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1483569	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57211450	0.98[ASN][1000 genomes]
rs73220011	0.82[ASN][1000 genomes]
rs73220052	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73220058	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73220064	0.83[ASN][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	nsv873716	chr2:20572094-20621404	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv581165	chr2:20581058-20616990	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20610400-20621000	Weak transcription	Left Ventricle	heart
2	chr2:20611200-20618200	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:20611200-20618400	Weak transcription	HSMM	muscle
4	chr2:20611600-20618000	Weak transcription	Adipose Nuclei	Adipose
5	chr2:20611600-20618400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:20614200-20618800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:20614600-20616000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:20614600-20616000	Enhancers	HMEC	breast
9	chr2:20614600-20616800	Enhancers	HepG2	liver
10	chr2:20614800-20616000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:20614800-20616000	Enhancers	NHEK	skin
12	chr2:20614800-20616400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:20615200-20616600	Enhancers	HSMMtube	muscle
14	chr2:20615200-20617000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr2:20615200-20617200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:20615200-20617200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:20615200-20617200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:20615400-20617000	Enhancers	Primary hematopoietic stem cells	blood
19	chr2:20615400-20617000	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr2:20615400-20617200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr2:20615400-20617200	Enhancers	GM12878-XiMat	blood
22	chr2:20615600-20617200	Enhancers	Fetal Brain Male	brain
23	chr2:20615600-20618400	Weak transcription	Stomach Mucosa	stomach
24	chr2:20615600-20619000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:20615600-20619000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:20615600-20619600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:20615600-20621000	Weak transcription	Esophagus	oesophagus
28	chr2:20615600-20621000	Weak transcription	NHDF-Ad	bronchial
29	chr2:20615600-20621600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:20615600-20624200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:20615800-20616000	Enhancers	K562	blood
32	chr2:20615800-20619000	Weak transcription	Placenta	Placenta
33	chr2:20615800-20621400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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