Variant report

Variant	rs60610185
Chromosome Location	chr11:72961980-72961981
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12280876	1.00[EUR][1000 genomes]
rs12284174	1.00[EUR][1000 genomes]
rs12291164	1.00[EUR][1000 genomes]
rs28719552	1.00[EUR][1000 genomes]
rs3933402	1.00[EUR][1000 genomes]
rs55851019	1.00[EUR][1000 genomes]
rs58053874	1.00[EUR][1000 genomes]
rs58460917	1.00[EUR][1000 genomes]
rs58995758	1.00[EUR][1000 genomes]
rs59268601	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59804106	1.00[EUR][1000 genomes]
rs60779105	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61086238	1.00[EUR][1000 genomes]
rs61122124	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61400770	1.00[EUR][1000 genomes]
rs61654355	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7111021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7119975	1.00[EUR][1000 genomes]
rs7122979	1.00[EUR][1000 genomes]
rs7123114	1.00[EUR][1000 genomes]
rs7123218	1.00[EUR][1000 genomes]
rs7127143	1.00[EUR][1000 genomes]
rs7127412	1.00[EUR][1000 genomes]
rs947836	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1038032	chr11:72925347-72966442	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
4	nsv975393	chr11:72954333-72969696	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3324251	chr11:72961129-72963877	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
6	esv3427911	chr11:72961429-72964227	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
7	esv3354884	chr11:72961704-72964102	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72953000-72962000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:72954000-72963600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:72954200-72964000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr11:72954200-72968600	Weak transcription	Left Ventricle	heart
5	chr11:72954400-72967000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:72955800-72962000	Enhancers	Placenta	Placenta
7	chr11:72956200-72963800	Weak transcription	Fetal Heart	heart
8	chr11:72956600-72968600	Weak transcription	Lung	lung
9	chr11:72960000-72962000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:72960800-72975400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:72961200-72963600	Weak transcription	A549	lung
12	chr11:72961200-72968400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr11:72961800-72963600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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