Variant report

Variant	rs1766147
Chromosome Location	chr14:36708179-36708180
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11845130	0.83[EUR][1000 genomes]
rs1618855	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1632250	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1755774	0.85[EUR][1000 genomes]
rs1755775	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1755776	0.88[EUR][1000 genomes]
rs1755777	0.88[EUR][1000 genomes]
rs1755778	0.87[EUR][1000 genomes]
rs1755779	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1755781	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1755782	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1755783	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1755784	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1755785	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1755786	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1755787	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1755788	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1755789	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1755791	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1766135	0.84[EUR][1000 genomes]
rs1766136	0.84[EUR][1000 genomes]
rs1766137	0.84[EUR][1000 genomes]
rs1766138	0.85[EUR][1000 genomes]
rs1766139	0.85[EUR][1000 genomes]
rs1766140	0.85[EUR][1000 genomes]
rs1766141	0.89[EUR][1000 genomes]
rs1766143	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1766144	0.88[EUR][1000 genomes]
rs1766145	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1766146	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1766148	0.83[ASN][1000 genomes]
rs1766149	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1863347	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1863348	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1895802	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1895803	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1895804	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2553570	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2553576	0.80[ASN][1000 genomes]
rs2764575	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2774164	0.94[EUR][1000 genomes]
rs2787423	0.84[EUR][1000 genomes]
rs2787424	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2787425	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34454287	0.84[EUR][1000 genomes]
rs67263215	0.84[EUR][1000 genomes]
rs7400734	0.82[ASN][1000 genomes]
rs8005096	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051045	chr14:36116503-36764947	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv542038	chr14:36116503-36764947	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv1041441	chr14:36545463-36756347	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv542041	chr14:36545463-36756347	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
8	nsv901633	chr14:36646725-36724607	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
11	esv3429093	chr14:36674701-36827119	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	esv3367425	chr14:36674721-36827089	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv1042408	chr14:36693910-36810554	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv542043	chr14:36693910-36810554	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36698800-36711800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:36699000-36711800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr14:36699400-36711800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:36702800-36711800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:36707000-36708400	Enhancers	HMEC	breast
6	chr14:36707200-36708800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:36707400-36708800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:36707400-36708800	Enhancers	NHEK	skin
9	chr14:36707600-36708200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:36707600-36708200	Enhancers	NHDF-Ad	bronchial
11	chr14:36707600-36708400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:36707600-36709600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:36707800-36708200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:36707800-36708400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr14:36707800-36708400	Enhancers	Fetal Stomach	stomach
16	chr14:36708000-36708200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:36708000-36708400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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