Variant report

Variant	rs55839647
Chromosome Location	chr9:116901700-116901701
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:116899310..116902540-chr9:116902912..116904896,4	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10982082	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12006337	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12338900	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12346144	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12352644	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7868176	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv893752	chr9:116899258-116944333	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats 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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116892800-116916000	Weak transcription	Gastric	stomach
2	chr9:116894800-116901800	Weak transcription	Stomach Mucosa	stomach
3	chr9:116895000-116901800	Weak transcription	Right Atrium	heart
4	chr9:116897600-116901800	Weak transcription	Lung	lung
5	chr9:116900000-116903200	Bivalent Enhancer	Placenta	Placenta
6	chr9:116900600-116902200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:116900600-116902200	Enhancers	Adipose Nuclei	Adipose
8	chr9:116900600-116903200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr9:116900600-116904600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr9:116900800-116901800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr9:116900800-116902000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr9:116900800-116902600	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr9:116900800-116905000	Enhancers	Left Ventricle	heart
14	chr9:116900800-116905200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr9:116900800-116906200	Enhancers	HepG2	liver
16	chr9:116901000-116901800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr9:116901000-116902000	Enhancers	Spleen	Spleen
18	chr9:116901000-116902800	Weak transcription	Psoas Muscle	Psoas
19	chr9:116901000-116903000	Enhancers	Brain Substantia Nigra	brain
20	chr9:116901200-116903400	Weak transcription	Right Ventricle	heart
21	chr9:116901200-116905000	Enhancers	Fetal Lung	lung
22	chr9:116901400-116903000	Enhancers	Brain Anterior Caudate	brain
23	chr9:116901600-116901800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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