Variant report

Variant	rs73300223
Chromosome Location	chr10:49771116-49771117
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1075811	1.00[ASN][1000 genomes]
rs1373786	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1373792	1.00[ASN][1000 genomes]
rs1445167	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1838577	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1838578	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2120909	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838424	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838624	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838625	1.00[ASN][1000 genomes]
rs56117471	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57675373	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57736095	1.00[ASN][1000 genomes]
rs57752920	1.00[ASN][1000 genomes]
rs58254275	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59556761	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60617338	1.00[ASN][1000 genomes]
rs60932029	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7085095	1.00[ASN][1000 genomes]
rs73300252	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7909968	1.00[ASN][1000 genomes]
rs7911853	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935264	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935291	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv6609	chr10:49770419-49778210	Weak transcription Strong transcription Enhancers Genic enhancers	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	chr10:49742600-49774800	Weak transcription	Aorta	Aorta
2	chr10:49751200-49771600	Weak transcription	Pancreas	Pancrea
3	chr10:49757400-49782200	Weak transcription	HSMMtube	muscle
4	chr10:49761600-49780600	Weak transcription	HUVEC	blood vessel
5	chr10:49762600-49772600	Weak transcription	Brain Angular Gyrus	brain
6	chr10:49763200-49780800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:49763800-49772600	Weak transcription	Brain Substantia Nigra	brain
8	chr10:49764400-49777800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr10:49765000-49773400	Weak transcription	NHLF	lung
10	chr10:49765000-49776400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:49765400-49774000	Weak transcription	NHDF-Ad	bronchial
12	chr10:49766000-49776800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:49766200-49772600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr10:49767400-49772000	Weak transcription	Osteobl	bone
15	chr10:49769200-49771200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr10:49769800-49771600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr10:49770000-49775200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr10:49770400-49771200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr10:49770600-49773400	Weak transcription	HSMM	muscle
20	chr10:49770800-49777400	Weak transcription	NH-A	brain
21	chr10:49771000-49771800	Weak transcription	Muscle Satellite Cultured Cells	--

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