Variant report

Variant	rs56723469
Chromosome Location	chr18:12505663-12505664
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11664232	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16973057	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16977205	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16977214	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16977227	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1893236	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2040197	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3887990	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4566245	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4797687	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4797689	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4797693	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58500351	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73403752	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403754	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403761	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403763	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73949246	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1060808	chr18:12302792-12514417	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv2208	chr18:12472999-12518189	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv523743	chr18:12474505-12742809	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	esv2756075	chr18:12481377-12548970	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12460200-12516600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr18:12478400-12512600	Weak transcription	Fetal Intestine Small	intestine
3	chr18:12478600-12506400	Weak transcription	Right Ventricle	heart
4	chr18:12478600-12510800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr18:12478800-12505800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr18:12478800-12514200	Weak transcription	NH-A	brain
7	chr18:12478800-12515800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr18:12478800-12515800	Weak transcription	Placenta	Placenta
9	chr18:12478800-12551800	Weak transcription	Pancreas	Pancrea
10	chr18:12480800-12511000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr18:12491600-12510800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr18:12492200-12530400	Weak transcription	HepG2	liver
13	chr18:12492200-12532800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr18:12492200-12548600	Weak transcription	Fetal Kidney	kidney
15	chr18:12492400-12515600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr18:12492800-12510800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr18:12493000-12541200	Weak transcription	NHEK	skin
18	chr18:12493200-12506400	Weak transcription	Left Ventricle	heart
19	chr18:12493200-12510800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr18:12493200-12512600	Weak transcription	Fetal Brain Male	brain
21	chr18:12493200-12518400	Weak transcription	Esophagus	oesophagus
22	chr18:12493200-12520000	Weak transcription	Colon Smooth Muscle	Colon
23	chr18:12493200-12520400	Weak transcription	Psoas Muscle	Psoas
24	chr18:12493200-12551800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr18:12493400-12515800	Weak transcription	Brain Substantia Nigra	brain
26	chr18:12494000-12515000	Weak transcription	Fetal Lung	lung
27	chr18:12494200-12515000	Weak transcription	HUVEC	blood vessel
28	chr18:12494400-12515600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr18:12495400-12515800	Weak transcription	NHDF-Ad	bronchial
30	chr18:12496000-12515000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr18:12497600-12518000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr18:12497800-12506200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr18:12500000-12509200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr18:12500800-12520600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr18:12501400-12507400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr18:12501600-12506400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr18:12501800-12507600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr18:12502000-12509200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr18:12502000-12520600	Weak transcription	Fetal Stomach	stomach
40	chr18:12503000-12506000	Strong transcription	HSMM	muscle
41	chr18:12503200-12507000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr18:12503200-12507000	Strong transcription	Fetal Brain Female	brain
43	chr18:12503200-12507200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr18:12503200-12507400	Strong transcription	Fetal Muscle Trunk	muscle
45	chr18:12503200-12507400	Strong transcription	Fetal Muscle Leg	muscle
46	chr18:12503200-12507600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr18:12503600-12506200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr18:12503600-12506200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr18:12503600-12507200	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr18:12504000-12506400	Weak transcription	HSMMtube	muscle

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