Variant report

Variant	rs888262
Chromosome Location	chr18:12750218-12750219
allele	A/C
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	EP300	chr18:12750133-12750395	GM12878	blood:	n/a	n/a
2	EBF1	chr18:12750112-12750439	GM12878	blood:	n/a	n/a
3	TCF12	chr18:12750039-12750369	GM12878	blood:	n/a	n/a
4	RUNX3	chr18:12749915-12750733	GM12878	blood:	n/a	chr18:12750239-12750248 chr18:12750239-12750254 chr18:12750239-12750248 chr18:12750239-12750256
5	RCOR1	chr18:12750193-12750226	HepG2	liver:	n/a	n/a
6	EBF1	chr18:12750013-12750418	GM12878	blood:	n/a	n/a
7	RUNX3	chr18:12750039-12750632	GM12878	blood:	n/a	chr18:12750239-12750248 chr18:12750239-12750254 chr18:12750239-12750248 chr18:12750239-12750256
8	TCF3	chr18:12750055-12750473	GM12878	blood:	n/a	n/a
9	TCF3	chr18:12750141-12750342	GM12878	blood:	n/a	n/a
10	EBF1	chr18:12750102-12750410	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000266961	TF binding region
ENSG00000267654	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11080598	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11080599	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11660234	0.82[ASN][1000 genomes]
rs11660242	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11660496	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11662231	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11664306	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11665591	0.92[ASN][1000 genomes]
rs12457255	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12958395	0.89[ASN][1000 genomes]
rs12959287	0.84[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap];0.86[ASN][1000 genomes]
rs12964137	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12970808	0.96[ASN][1000 genomes]
rs17655374	0.89[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs1833325	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2096863	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2105665	0.96[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34114998	0.92[ASN][1000 genomes]
rs34946503	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7232246	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7242404	0.92[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	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
5	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv1064273	chr18:12697601-12828251	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv909405	chr18:12727224-12750499	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv909406	chr18:12727224-12761498	ZNF genes & repeats Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1062149	chr18:12728115-12783898	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
11	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12748000-12750600	Enhancers	NHEK	skin
2	chr18:12748000-12750800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr18:12748000-12751000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr18:12748200-12751000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr18:12748200-12751000	Enhancers	NHDF-Ad	bronchial
6	chr18:12748400-12751000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr18:12748600-12750800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr18:12749000-12750600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr18:12749000-12750600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr18:12749000-12751800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr18:12749200-12750800	Enhancers	HMEC	breast
12	chr18:12749200-12751000	Enhancers	Primary B cells from peripheral blood	blood
13	chr18:12749400-12750800	Enhancers	Osteobl	bone
14	chr18:12749400-12751000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr18:12749400-12751400	Enhancers	Fetal Thymus	thymus
16	chr18:12749400-12752000	Weak transcription	Placenta	Placenta
17	chr18:12749600-12750800	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr18:12749600-12750800	Enhancers	NHLF	lung
19	chr18:12749800-12750400	Enhancers	Primary T cells fromperipheralblood	blood
20	chr18:12749800-12750600	Enhancers	Dnd41	blood
21	chr18:12749800-12750800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr18:12749800-12751200	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr18:12749800-12751200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr18:12750000-12750600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr18:12750000-12750600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr18:12750000-12750600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr18:12750000-12750800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:12750000-12751200	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr18:12750200-12750400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr18:12750200-12750400	Enhancers	Thymus	Thymus
31	chr18:12750200-12750400	Enhancers	GM12878-XiMat	blood
32	chr18:12750200-12750400	Flanking Active TSS	HSMM	muscle
33	chr18:12750200-12750400	Flanking Active TSS	HSMMtube	muscle
34	chr18:12750200-12750600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr18:12750200-12750600	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr18:12750200-12750600	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr18:12750200-12750600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr18:12750200-12750600	Enhancers	A549	lung
39	chr18:12750200-12750800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr18:12750200-12750800	Flanking Active TSS	HepG2	liver
41	chr18:12750200-12751000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr18:12750200-12751000	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr18:12750200-12751200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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