Variant report

Variant	rs12455431
Chromosome Location	chr18:12255300-12255301
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12455085	1.00[ASN][1000 genomes]
rs12455815	1.00[ASN][1000 genomes]
rs12458454	1.00[ASN][1000 genomes]
rs12458979	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60132277	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73947526	0.87[EUR][1000 genomes]
rs9948060	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv909401	chr18:12211483-12312075	Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv909402	chr18:12211483-12325222	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv909403	chr18:12231060-12325222	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1061545	chr18:12235999-12328405	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12253000-12255400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:12253200-12255800	Bivalent Enhancer	Fetal Brain Male	brain
3	chr18:12253800-12255400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr18:12253800-12255800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
5	chr18:12254000-12255400	Flanking Bivalent TSS/Enh	NHEK	skin
6	chr18:12254000-12256000	Flanking Active TSS	HMEC	breast
7	chr18:12254200-12255600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr18:12254200-12255600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr18:12254400-12255600	Bivalent Enhancer	Osteobl	bone
10	chr18:12254400-12256000	Bivalent/Poised TSS	Fetal Brain Female	brain
11	chr18:12254600-12255400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr18:12254600-12255800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr18:12254600-12255800	Bivalent Enhancer	Fetal Stomach	stomach
14	chr18:12254600-12256200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr18:12254600-12256200	Bivalent Enhancer	NHLF	lung
16	chr18:12254600-12257000	Weak transcription	Left Ventricle	heart
17	chr18:12254600-12271600	Weak transcription	Right Atrium	heart
18	chr18:12254800-12255400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr18:12254800-12255600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr18:12254800-12255600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
21	chr18:12254800-12255800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
22	chr18:12254800-12255800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr18:12254800-12256000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr18:12254800-12256000	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr18:12254800-12256200	Enhancers	NH-A	brain
26	chr18:12254800-12256800	Weak transcription	Lung	lung
27	chr18:12254800-12256800	Weak transcription	Right Ventricle	heart
28	chr18:12254800-12257000	Weak transcription	Brain Anterior Caudate	brain
29	chr18:12254800-12257400	Enhancers	HUVEC	blood vessel
30	chr18:12254800-12257800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr18:12255000-12255400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr18:12255000-12255400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr18:12255000-12256000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr18:12255000-12256800	Weak transcription	Esophagus	oesophagus
35	chr18:12255000-12258600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr18:12255000-12258600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr18:12255200-12255400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr18:12255200-12255400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr18:12255200-12255400	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr18:12255200-12255400	Bivalent Enhancer	Brain Angular Gyrus	brain
41	chr18:12255200-12255600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
42	chr18:12255200-12255800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr18:12255200-12256000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
44	chr18:12255200-12256000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr18:12255200-12256200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
46	chr18:12255200-12256400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr18:12255200-12256400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
48	chr18:12255200-12257400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
49	chr18:12255200-12258200	Enhancers	Placenta	Placenta

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