Variant report

Variant	rs59227012
Chromosome Location	chr9:116893831-116893832
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:116893641..116895385-chr9:116898408..116900822,2	MCF-7	breast:
2	chr9:116887858..116889853-chr9:116891436..116894089,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1078301	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10982079	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11788110	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4979340	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4979341	0.87[AMR][1000 genomes]
rs4979342	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs57084939	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57494053	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57495684	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58340169	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs59323233	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs891720	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs919642	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS 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 miRNA target site	165 gene(s)	inside rSNPs	diseases
2	esv2422396	chr9:116792944-117354862	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS 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 miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
3	esv2422492	chr9:116811294-117366643	Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
4	esv2761285	chr9:116811897-117103268	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
5	nsv870215	chr9:116842614-117070344	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	124 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116889600-116894600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:116891200-116894000	Enhancers	Stomach Mucosa	stomach
3	chr9:116891800-116894000	Enhancers	Liver	Liver
4	chr9:116892200-116897200	Enhancers	HepG2	liver
5	chr9:116892400-116895000	Enhancers	Fetal Lung	lung
6	chr9:116892400-116895400	Enhancers	Left Ventricle	heart
7	chr9:116892600-116894000	Enhancers	Right Atrium	heart
8	chr9:116892600-116894200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr9:116892800-116895400	Enhancers	Fetal Heart	heart
10	chr9:116892800-116916000	Weak transcription	Gastric	stomach
11	chr9:116893200-116894400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr9:116893200-116900600	Weak transcription	Right Ventricle	heart
13	chr9:116893400-116895800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr9:116893600-116897400	Weak transcription	Lung	lung
15	chr9:116893800-116894000	Bivalent Enhancer	HSMMtube	muscle
16	chr9:116893800-116894200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr9:116893800-116894600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr9:116893800-116894600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr9:116893800-116894600	Bivalent Enhancer	Placenta	Placenta
20	chr9:116893800-116895200	Enhancers	Fetal Muscle Leg	muscle

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