Variant report

Variant	rs62237411
Chromosome Location	chr3:21696066-21696067
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12633967	0.81[AMR][1000 genomes]
rs12636280	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1320290	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1320291	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs17009199	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3821396	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs60445541	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62237383	0.80[ASN][1000 genomes]
rs62237406	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62237408	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62237409	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62237412	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs62237415	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62237416	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62237417	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs62237418	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs62237419	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6762678	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9810547	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv534005	chr3:21387588-22003293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1010460	chr3:21516810-21839871	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv834631	chr3:21612283-21763887	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1007048	chr3:21666807-21865229	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv536516	chr3:21666807-21865229	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv589896	chr3:21692393-21712269	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21683800-21706600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:21685600-21707200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:21687200-21696400	Weak transcription	Aorta	Aorta
4	chr3:21687200-21701800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:21687200-21706200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:21687200-21709600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:21687400-21706800	Weak transcription	Fetal Lung	lung
8	chr3:21688000-21699000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr3:21688000-21707000	Weak transcription	Fetal Muscle Leg	muscle
10	chr3:21695000-21703600	Weak transcription	K562	blood
11	chr3:21695800-21696200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:21695800-21696400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:21695800-21696800	Enhancers	NHDF-Ad	bronchial
14	chr3:21695800-21696800	Enhancers	NHLF	lung
15	chr3:21695800-21697000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:21695800-21697000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr3:21696000-21696200	Flanking Active TSS	NH-A	brain
18	chr3:21696000-21696600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:21696000-21696600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr3:21696000-21696800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:21696000-21696800	Enhancers	HSMM	muscle

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