Variant report

Variant	rs60132277
Chromosome Location	chr18:12254539-12254540
allele	C/G
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	MAX	chr18:12254043-12254882	H1-hESC	embryonic stem cell:	n/a	chr18:12254711-12254722
2	SIN3A	chr18:12253843-12254902	H1-hESC	embryonic stem cell:	n/a	n/a
3	GABPA	chr18:12254207-12254887	H1-hESC	embryonic stem cell:	n/a	chr18:12254607-12254616
4	E2F6	chr18:12254024-12254831	H1-hESC	embryonic stem cell:	n/a	chr18:12254637-12254646 chr18:12254607-12254616
5	CTCF	chr18:12254520-12254670	HRE	kidney:	n/a	chr18:12254524-12254537
6	ZNF143	chr18:12254446-12254736	H1-hESC	embryonic stem cell:	n/a	chr18:12254606-12254616
7	E2F6	chr18:12253983-12254569	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr18:12254049-12254904	H1-hESC	embryonic stem cell:	n/a	chr18:12254711-12254722
9	CTBP2	chr18:12253595-12255446	H1-hESC	embryonic stem cell:	n/a	n/a
10	SUZ12	chr18:12253095-12254735	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr18:12254400-12254550	HMEC	breast:	n/a	chr18:12254524-12254537

Variant related genes	Relation type
CIDEA	TF binding region

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]
rs12455431	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12455815	1.00[ASN][1000 genomes]
rs12458454	1.00[ASN][1000 genomes]
rs12458979	0.92[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:86 , 50 per page) page: 1 2

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	chr18:12253200-12254800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
3	chr18:12253200-12255000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
4	chr18:12253200-12255800	Bivalent Enhancer	Fetal Brain Male	brain
5	chr18:12253400-12254600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr18:12253400-12254600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr18:12253400-12254800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr18:12253400-12254800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr18:12253400-12254800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr18:12253400-12254800	Enhancers	Lung	lung
11	chr18:12253400-12255000	Enhancers	Pancreas	Pancrea
12	chr18:12253400-12255200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
13	chr18:12253400-12255200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr18:12253600-12254600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
15	chr18:12253600-12254800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
16	chr18:12253600-12254800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
17	chr18:12253600-12254800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
18	chr18:12253600-12254800	Bivalent Enhancer	Fetal Thymus	thymus
19	chr18:12253600-12254800	Flanking Active TSS	Right Ventricle	heart
20	chr18:12253600-12255000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr18:12253600-12255000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
22	chr18:12253600-12255200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr18:12253600-12255200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
24	chr18:12253800-12254600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr18:12253800-12254600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr18:12253800-12254600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr18:12253800-12254600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr18:12253800-12254600	Bivalent Enhancer	Liver	Liver
29	chr18:12253800-12254600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
30	chr18:12253800-12254600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
31	chr18:12253800-12254600	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
32	chr18:12253800-12254600	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
33	chr18:12253800-12254600	Flanking Bivalent TSS/Enh	NHLF	lung
34	chr18:12253800-12254800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr18:12253800-12254800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr18:12253800-12254800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
37	chr18:12253800-12254800	Bivalent Enhancer	Fetal Lung	lung
38	chr18:12253800-12254800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
39	chr18:12253800-12254800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
40	chr18:12253800-12254800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
41	chr18:12253800-12255000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
42	chr18:12253800-12255000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
43	chr18:12253800-12255400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
44	chr18:12253800-12255800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
45	chr18:12254000-12254600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
46	chr18:12254000-12254600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
47	chr18:12254000-12254600	Flanking Bivalent TSS/Enh	Ovary	ovary
48	chr18:12254000-12254600	Active TSS	Psoas Muscle	Psoas
49	chr18:12254000-12254600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
50	chr18:12254000-12254600	Active TSS	Right Atrium	heart

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