Variant report

Variant	rs72618186
Chromosome Location	chr9:95074697-95074698
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:95074352-95074715	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
NOL8	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10992313	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10992317	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10992330	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10992339	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10992355	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10992357	0.86[EUR][1000 genomes]
rs2295940	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2895218	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs715846	0.83[AFR][1000 genomes];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	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1045165	chr9:95057462-95138564	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95056800-95086800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:95057000-95087000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:95058000-95086200	Weak transcription	Stomach Mucosa	stomach
4	chr9:95058200-95074800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr9:95058200-95085800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr9:95058400-95074800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr9:95058400-95085600	Strong transcription	Placenta	Placenta
8	chr9:95058400-95085800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr9:95058400-95085800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr9:95058400-95086200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:95058600-95085800	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr9:95058600-95085800	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr9:95059200-95074800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr9:95059200-95074800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr9:95059200-95085600	Strong transcription	Duodenum Mucosa	Duodenum
16	chr9:95059200-95085600	Strong transcription	Fetal Intestine Large	intestine
17	chr9:95059200-95085800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr9:95059200-95085800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr9:95059400-95085600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr9:95059400-95085600	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr9:95059400-95085800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr9:95059400-95085800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr9:95059600-95075200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr9:95059600-95085600	Strong transcription	Primary T cells from cord blood	blood
25	chr9:95060000-95085600	Strong transcription	Fetal Muscle Trunk	muscle
26	chr9:95060200-95075800	Strong transcription	Brain Anterior Caudate	brain
27	chr9:95060200-95083200	Strong transcription	Fetal Muscle Leg	muscle
28	chr9:95062000-95076000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr9:95062000-95081200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr9:95062200-95085800	Strong transcription	Primary B cells from peripheral blood	blood
31	chr9:95062800-95083600	Strong transcription	Primary B cells from cord blood	blood
32	chr9:95063000-95075400	Strong transcription	Brain Germinal Matrix	brain
33	chr9:95070200-95075200	Strong transcription	Fetal Stomach	stomach
34	chr9:95070400-95075000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr9:95070400-95075200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr9:95071400-95077200	Weak transcription	Small Intestine	intestine
37	chr9:95072000-95085800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr9:95072600-95079200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr9:95072800-95078000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr9:95073000-95078200	Weak transcription	Fetal Brain Male	brain
41	chr9:95073000-95078800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr9:95073000-95081200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:95073200-95075400	Weak transcription	Fetal Brain Female	brain
44	chr9:95073200-95075600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr9:95073200-95079200	Weak transcription	Esophagus	oesophagus
46	chr9:95073200-95086600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr9:95073400-95075200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr9:95073400-95075200	Weak transcription	Fetal Heart	heart
49	chr9:95073400-95075200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr9:95073400-95075400	Weak transcription	Fetal Lung	lung

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