Variant report

Variant	rs60690485
Chromosome Location	chr4:82033532-82033533
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11723204	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11731129	0.82[ASN][1000 genomes]
rs1443538	0.82[ASN][1000 genomes]
rs1443539	0.82[ASN][1000 genomes]
rs1443540	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1443545	0.80[ASN][1000 genomes]
rs17005059	0.82[ASN][1000 genomes]
rs17005060	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17005062	0.83[ASN][1000 genomes]
rs17005063	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1838174	0.82[ASN][1000 genomes]
rs2028645	0.82[ASN][1000 genomes]
rs28604504	0.86[ASN][1000 genomes]
rs2868139	0.82[ASN][1000 genomes]
rs55846324	0.82[ASN][1000 genomes]
rs55923509	0.82[ASN][1000 genomes]
rs56142532	0.82[ASN][1000 genomes]
rs58198023	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61131199	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61151552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66753456	0.82[ASN][1000 genomes]
rs6821258	0.85[ASN][1000 genomes]
rs6849436	0.82[ASN][1000 genomes]
rs72871776	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72871779	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72871784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72876762	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72876786	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7675843	0.82[ASN][1000 genomes]
rs9685762	0.83[ASN][1000 genomes]
rs980767	0.82[ASN][1000 genomes]
rs980768	0.80[ASN][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	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS 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	7 gene(s)	inside rSNPs	diseases
3	nsv829984	chr4:81979988-82113977	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv1822437	chr4:82025743-82118996	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82025400-82051600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:82028200-82035000	Weak transcription	NHDF-Ad	bronchial
3	chr4:82028200-82050600	Weak transcription	Fetal Intestine Large	intestine
4	chr4:82030000-82051200	Weak transcription	Fetal Intestine Small	intestine
5	chr4:82032600-82042200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:82032800-82033800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:82032800-82039200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:82032800-82051200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:82033200-82033600	Enhancers	NHLF	lung
10	chr4:82033200-82034000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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