Variant report

Variant	rs73049457
Chromosome Location	chr3:23644183-23644184
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10510538	0.84[EUR][1000 genomes]
rs12638508	0.82[EUR][1000 genomes]
rs57338964	0.82[EUR][1000 genomes]
rs57859482	0.93[EUR][1000 genomes]
rs58157906	0.96[EUR][1000 genomes]
rs59180179	0.82[EUR][1000 genomes]
rs59267402	0.81[EUR][1000 genomes]
rs59461083	0.82[EUR][1000 genomes]
rs60378326	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61674523	0.84[EUR][1000 genomes]
rs73038845	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73041601	0.82[EUR][1000 genomes]
rs73043622	0.82[EUR][1000 genomes]
rs73043635	0.84[EUR][1000 genomes]
rs73043648	0.84[EUR][1000 genomes]
rs73043654	0.82[EUR][1000 genomes]
rs73043677	0.84[EUR][1000 genomes]
rs73043684	0.84[EUR][1000 genomes]
rs73043689	0.84[EUR][1000 genomes]
rs73043697	0.86[EUR][1000 genomes]
rs73045614	0.89[EUR][1000 genomes]
rs73045642	0.91[EUR][1000 genomes]
rs73049415	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73049445	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73049455	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7632099	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007373	chr3:23367952-23710331	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv460479	chr3:23626919-23807550	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv589949	chr3:23626919-23807550	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23628800-23647200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:23632800-23647200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:23638400-23644400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:23638400-23653000	Weak transcription	Aorta	Aorta
5	chr3:23638400-23653400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:23638800-23653400	Weak transcription	Primary B cells from cord blood	blood
7	chr3:23640800-23647400	Weak transcription	Brain Substantia Nigra	brain
8	chr3:23641600-23644200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr3:23641800-23644400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:23642000-23653000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:23642400-23660800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:23642600-23644200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr3:23642600-23647200	Weak transcription	Brain Hippocampus Middle	brain
14	chr3:23642800-23644400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr3:23643200-23647600	Weak transcription	Brain Angular Gyrus	brain
16	chr3:23643400-23644400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:23643400-23644400	Weak transcription	HSMMtube	muscle
18	chr3:23643400-23645800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:23643400-23645800	Weak transcription	NH-A	brain
20	chr3:23643400-23648800	Weak transcription	Fetal Lung	lung
21	chr3:23643400-23652800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:23643600-23644800	Weak transcription	Fetal Kidney	kidney
23	chr3:23643600-23647000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr3:23643600-23649000	Weak transcription	Fetal Heart	heart
25	chr3:23643800-23644800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr3:23643800-23645000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr3:23643800-23648800	Weak transcription	Colon Smooth Muscle	Colon
28	chr3:23644000-23644800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr3:23644000-23644800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr3:23644000-23645000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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