Variant report

Variant	rs7127412
Chromosome Location	chr11:72959766-72959767
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
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	1.00[EUR][1000 genomes]
rs59804106	1.00[EUR][1000 genomes]
rs60610185	1.00[EUR][1000 genomes]
rs60779105	1.00[EUR][1000 genomes]
rs61086238	1.00[EUR][1000 genomes]
rs61122124	1.00[EUR][1000 genomes]
rs61400770	1.00[EUR][1000 genomes]
rs61654355	1.00[EUR][1000 genomes]
rs7111021	1.00[EUR][1000 genomes]
rs7119975	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7122979	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7123114	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7123218	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7127143	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs947836	1.00[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	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

No data

Chromatin state (count:25 , 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	chr11:72954200-72959800	Weak transcription	Hela-S3	cervix
4	chr11:72954200-72961000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr11:72954200-72964000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr11:72954200-72968600	Weak transcription	Left Ventricle	heart
7	chr11:72954400-72959800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:72954400-72960600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:72954400-72967000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:72954600-72959800	Weak transcription	A549	lung
11	chr11:72955800-72962000	Enhancers	Placenta	Placenta
12	chr11:72956000-72961200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr11:72956200-72963800	Weak transcription	Fetal Heart	heart
14	chr11:72956600-72968600	Weak transcription	Lung	lung
15	chr11:72957000-72961000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:72957200-72960000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:72957400-72960800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr11:72957600-72961000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:72958000-72959800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr11:72958200-72961000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:72959600-72959800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:72959600-72960000	Enhancers	K562	blood
23	chr11:72959600-72960800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:72959600-72961000	Enhancers	Placenta Amnion	Placenta Amnion
25	chr11:72959600-72961800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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