Variant report

Variant	rs2188047
Chromosome Location	chr9:118256660-118256661
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10121366	0.88[EUR][1000 genomes]
rs10732379	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10759780	0.88[AMR][1000 genomes]
rs10759785	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10759786	0.85[EUR][1000 genomes]
rs10817766	0.83[AMR][1000 genomes]
rs12115665	1.00[AFR][1000 genomes]
rs1989770	0.82[ASN][1000 genomes]
rs2097587	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2213920	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4424342	0.86[ASN][1000 genomes]
rs4637918	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4978638	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4979523	0.88[AMR][1000 genomes]
rs4979528	0.88[AMR][1000 genomes]
rs4979529	0.88[AMR][1000 genomes]
rs4979533	0.91[AMR][1000 genomes]
rs4979536	0.91[AMR][1000 genomes]
rs4979539	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55652072	1.00[AFR][1000 genomes]
rs57608770	0.86[ASN][1000 genomes]
rs6415818	0.91[AMR][1000 genomes]
rs6415819	0.89[AMR][1000 genomes]
rs6415820	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6478166	0.91[AMR][1000 genomes]
rs6478168	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6478170	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6478174	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7042718	0.88[AMR][1000 genomes]
rs7047851	0.91[AMR][1000 genomes]
rs739342	1.00[AFR][1000 genomes]
rs7467290	1.00[AFR][1000 genomes]
rs7467654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7847118	0.88[AMR][1000 genomes]
rs7852799	0.88[AMR][1000 genomes]
rs7852977	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7857548	0.88[AMR][1000 genomes]
rs7857923	0.88[AMR][1000 genomes]
rs7860135	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7862261	0.88[AMR][1000 genomes]
rs7863450	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7870511	0.88[AMR][1000 genomes]
rs9299227	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9408871	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9409160	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9409169	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs980176	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv615251	chr9:117975864-118514444	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv948346	chr9:118107565-118718197	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1042957	chr9:118153824-118313540	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1046948	chr9:118185587-118926891	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv916622	chr9:118206309-118952390	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv540207	chr9:118206311-118920304	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv491661	chr9:118206312-118802177	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv893770	chr9:118213502-118299750	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv893771	chr9:118244107-118332688	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv615252	chr9:118253001-118314667	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1043001	chr9:118253881-118333900	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:118237600-118257000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:118238200-118269400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:118241400-118269400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:118242000-118260600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr9:118244800-118256800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr9:118244800-118269400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr9:118246000-118257000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr9:118248800-118257200	Weak transcription	Aorta	Aorta
9	chr9:118249200-118275200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr9:118252200-118257000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr9:118252800-118257200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr9:118255200-118257200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:118255600-118257000	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr9:118255600-118257400	Enhancers	H9 Cell Line	embryonic stem cell
15	chr9:118255800-118257400	Enhancers	NHDF-Ad	bronchial
16	chr9:118256000-118257400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr9:118256000-118258400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr9:118256000-118259200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr9:118256200-118257400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr9:118256400-118257800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:118256600-118257000	Bivalent Enhancer	A549	lung
22	chr9:118256600-118257400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
23	chr9:118256600-118257400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr9:118256600-118258600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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