Variant report

Variant	rs66514320
Chromosome Location	chr3:52060720-52060721
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:52059478..52062079-chr3:52187241..52190145,3	K562	blood:
2	chr3:52060421..52063278-chr3:52077239..52079436,2	K562	blood:
3	chr3:52058192..52060960-chr3:52064469..52066894,2	K562	blood:
4	chr3:52060421..52065315-chr3:52077239..52080916,4	K562	blood:
5	chr3:52053407..52057032-chr3:52057873..52061894,4	K562	blood:

Variant related genes	Relation type
ENSG00000164087	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12487108	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12492696	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2334959	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2334960	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4687606	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4687798	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4687799	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6792935	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72622936	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs745618	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9873175	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520211	chr3:51772347-52166147	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1003453	chr3:51962081-52099441	Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv1804090	chr3:51962081-52140591	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
4	esv1835339	chr3:51962081-52140591	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	nsv1003581	chr3:51973395-52108645	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv1001062	chr3:51973395-52134638	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv876780	chr3:51981021-52101799	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
8	nsv519445	chr3:52004317-52367932	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
9	nsv876786	chr3:52041566-52236762	Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv984541	chr3:52055970-52285682	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
11	esv3398903	chr3:52056112-52061110	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52048600-52061000	Enhancers	Fetal Muscle Leg	muscle
2	chr3:52050600-52073400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:52055600-52060800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr3:52055800-52060800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr3:52056000-52062400	Weak transcription	NHEK	skin
6	chr3:52056600-52064400	Weak transcription	Pancreas	Pancrea
7	chr3:52056600-52066400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr3:52057800-52062600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:52057800-52062800	Weak transcription	Osteobl	bone
10	chr3:52058000-52062400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:52058000-52062400	Enhancers	Fetal Muscle Trunk	muscle
12	chr3:52058000-52062600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:52058000-52062600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:52058400-52060800	Enhancers	Left Ventricle	heart
15	chr3:52058400-52060800	Enhancers	Right Atrium	heart
16	chr3:52058400-52062400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:52058600-52062200	Weak transcription	NHDF-Ad	bronchial
18	chr3:52058600-52062400	Weak transcription	K562	blood
19	chr3:52059200-52060800	Enhancers	Spleen	Spleen
20	chr3:52059200-52062600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:52059600-52060800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:52059600-52060800	Enhancers	HSMM	muscle
23	chr3:52059600-52062600	Weak transcription	Placenta	Placenta
24	chr3:52060000-52062400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:52060000-52062800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:52060000-52065200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:52060200-52060800	Enhancers	Esophagus	oesophagus
28	chr3:52060200-52063400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr3:52060400-52062400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr3:52060400-52062400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr3:52060400-52062400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr3:52060400-52062400	Weak transcription	Brain Anterior Caudate	brain
33	chr3:52060400-52062400	Weak transcription	Right Ventricle	heart
34	chr3:52060600-52061600	Weak transcription	Brain Substantia Nigra	brain
35	chr3:52060600-52062200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr3:52060600-52062200	Weak transcription	Lung	lung
37	chr3:52060600-52062400	Weak transcription	Brain Angular Gyrus	brain
38	chr3:52060600-52062400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr3:52060600-52062400	Weak transcription	Brain Hippocampus Middle	brain
40	chr3:52060600-52062400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr3:52060600-52062400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr3:52060600-52062400	Weak transcription	Fetal Brain Female	brain
43	chr3:52060600-52062400	Weak transcription	Fetal Heart	heart
44	chr3:52060600-52062400	Weak transcription	Psoas Muscle	Psoas
45	chr3:52060600-52062400	Weak transcription	HSMMtube	muscle
46	chr3:52060600-52062600	Weak transcription	Fetal Brain Male	brain
47	chr3:52060600-52062800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr3:52060600-52066000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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