Variant report

Variant	rs9962448
Chromosome Location	chr18:12635344-12635345
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs28458340	1.00[AMR][1000 genomes]
rs8085567	1.00[AMR][1000 genomes]
rs9945047	1.00[AMR][1000 genomes]
rs9945963	1.00[AMR][1000 genomes]
rs9949515	1.00[AMR][1000 genomes]
rs9955272	1.00[AMR][1000 genomes]
rs9961266	1.00[AMR][1000 genomes]
rs9963004	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	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
5	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
6	nsv962958	chr18:12626598-12636297	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12602200-12638400	Weak transcription	Fetal Brain Female	brain
2	chr18:12607000-12640200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr18:12607800-12651800	Weak transcription	Brain Germinal Matrix	brain
4	chr18:12616400-12640400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr18:12616400-12644800	Weak transcription	Brain Hippocampus Middle	brain
6	chr18:12616600-12645200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr18:12621200-12645200	Weak transcription	Fetal Muscle Leg	muscle
8	chr18:12622800-12645000	Weak transcription	Brain Angular Gyrus	brain
9	chr18:12624000-12637600	Weak transcription	Left Ventricle	heart
10	chr18:12625400-12640400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr18:12626600-12640600	Weak transcription	Lung	lung
12	chr18:12629800-12638400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr18:12629800-12640400	Weak transcription	HSMMtube	muscle
14	chr18:12630400-12645400	Weak transcription	Ovary	ovary
15	chr18:12630800-12637600	Weak transcription	HMEC	breast
16	chr18:12630800-12637600	Weak transcription	NH-A	brain
17	chr18:12630800-12640600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr18:12631000-12637200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr18:12631000-12637400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr18:12631000-12637600	Weak transcription	HSMM	muscle
21	chr18:12631000-12638000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr18:12631000-12638600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr18:12631000-12640400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr18:12631000-12645200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr18:12631000-12645200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr18:12631200-12636800	Weak transcription	Osteobl	bone
27	chr18:12631200-12637200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr18:12631200-12637400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr18:12631200-12637800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr18:12631200-12640400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr18:12631200-12647800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr18:12631400-12645200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr18:12632400-12637600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr18:12632600-12637600	Weak transcription	K562	blood
35	chr18:12633200-12637000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr18:12633400-12637800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr18:12633600-12637200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr18:12633600-12638000	Weak transcription	HUVEC	blood vessel
39	chr18:12633600-12655800	Weak transcription	Fetal Stomach	stomach
40	chr18:12633800-12637600	Weak transcription	NHEK	skin
41	chr18:12635000-12640000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr18:12635000-12645800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr18:12635200-12640600	Weak transcription	Gastric	stomach
44	chr18:12635200-12645800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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