Variant report

Variant	rs62280069
Chromosome Location	chr3:19983452-19983453
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:19976162..19983592-chr3:19985528..19991017,8	MCF-7	breast:
2	chr3:19979250..19980946-chr3:19981520..19983771,2	K562	blood:

Variant related genes	Relation type
ENSG00000163576	Chromatin interaction
ENSG00000144566	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10222385	0.83[EUR][1000 genomes]
rs10510496	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11715597	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11717172	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12497083	0.87[EUR][1000 genomes]
rs17180735	0.86[AMR][1000 genomes]
rs17181086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17181547	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17796169	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17796242	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34914456	0.81[EUR][1000 genomes]
rs56070425	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62241269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62241282	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62241284	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62241287	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62241288	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62241291	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62241292	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62241293	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62241297	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62241298	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62241299	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62241315	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62241318	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62241319	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62241320	0.90[EUR][1000 genomes]
rs62241323	0.90[EUR][1000 genomes]
rs62241325	0.90[EUR][1000 genomes]
rs6784536	0.82[EUR][1000 genomes]
rs6792745	0.82[EUR][1000 genomes]
rs6802632	0.82[EUR][1000 genomes]
rs9813641	0.86[EUR][1000 genomes]
rs9818225	0.83[EUR][1000 genomes]
rs9822455	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9828050	0.85[EUR][1000 genomes]
rs9828709	0.82[EUR][1000 genomes]
rs9834131	0.86[EUR][1000 genomes]
rs9838300	0.82[EUR][1000 genomes]
rs9838320	0.82[EUR][1000 genomes]
rs9854371	0.82[EUR][1000 genomes]
rs9855386	0.83[EUR][1000 genomes]
rs9858983	0.82[EUR][1000 genomes]
rs9871747	0.83[EUR][1000 genomes]
rs9882323	0.83[EUR][1000 genomes]
rs9882344	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010123	chr3:18990307-19989504	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv433358	chr3:19547184-19996508	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv1828161	chr3:19547184-20062060	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv1825914	chr3:19549859-20137270	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv1833006	chr3:19562271-20389045	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	esv1826570	chr3:19579860-20077414	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	esv1833139	chr3:19579860-20121349	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	esv1826254	chr3:19592688-20042834	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1010613	chr3:19942032-20461486	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	esv1826030	chr3:19972766-20170581	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	esv1825988	chr3:19976375-20102773	Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
12	nsv963300	chr3:19981798-19984730	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv1826830	chr3:19982972-20632072	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs62280069	EFHB	cis	Whole Blood	GTEx
rs62280069	EFHB	cis	Esophagus Muscularis	GTEx
rs62280069	EFHB	cis	Nerve Tibial	GTEx
rs62280069	EFHB	cis	Esophagus Mucosa	GTEx
rs62280069	EFHB	cis	Artery Tibial	GTEx
rs62280069	EFHB	cis	Skin Sun Exposed Lower leg	GTEx
rs62280069	EFHB	cis	Stomach	GTEx
rs62280069	EFHB	cis	Adipose Subcutaneous	GTEx
rs62280069	EFHB	cis	Muscle Skeletal	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:19973600-19987200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr3:19975600-19987400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:19976000-19987400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:19979600-19987600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr3:19979600-19987800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr3:19980000-19986600	Weak transcription	K562	blood
7	chr3:19982200-19987200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:19983200-19987400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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