Variant report

Variant	rs3786385
Chromosome Location	chr18:8320132-8320133
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1272648	0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs605846	0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs644936	0.83[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs655800	0.82[ASN][1000 genomes]
rs7241557	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9304010	0.95[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1057288	chr18:8218725-8351340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv543639	chr18:8218725-8351340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3351324	chr18:8250514-8405140	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1058445	chr18:8270681-8421249	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8289200-8327400	Weak transcription	Fetal Stomach	stomach
2	chr18:8289200-8329400	Weak transcription	Fetal Muscle Leg	muscle
3	chr18:8294200-8341400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr18:8297000-8328200	Weak transcription	Brain Anterior Caudate	brain
5	chr18:8297200-8327400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr18:8298200-8327000	Weak transcription	Ovary	ovary
7	chr18:8298400-8324800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr18:8298400-8329400	Weak transcription	Aorta	Aorta
9	chr18:8298600-8320200	Weak transcription	Thymus	Thymus
10	chr18:8298600-8327000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr18:8299200-8328600	Weak transcription	HepG2	liver
12	chr18:8301800-8321000	Weak transcription	Fetal Lung	lung
13	chr18:8301800-8322600	Weak transcription	Pancreas	Pancrea
14	chr18:8302400-8320200	Weak transcription	Lung	lung
15	chr18:8302800-8327000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr18:8307400-8321800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr18:8307400-8328400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr18:8307600-8327200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr18:8308400-8327400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr18:8313000-8327200	Weak transcription	Spleen	Spleen
21	chr18:8313200-8321400	Weak transcription	Liver	Liver
22	chr18:8314000-8325200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr18:8314400-8320200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr18:8314400-8320800	Weak transcription	Gastric	stomach
25	chr18:8315000-8327400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr18:8315200-8326600	Weak transcription	Fetal Kidney	kidney
27	chr18:8317000-8325000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr18:8317200-8327400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr18:8318800-8321000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr18:8319200-8327400	Weak transcription	Colon Smooth Muscle	Colon
31	chr18:8319400-8320400	Enhancers	Right Ventricle	heart
32	chr18:8319400-8323000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr18:8319600-8320400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr18:8319600-8320400	Enhancers	A549	lung
35	chr18:8319600-8320400	Enhancers	NHDF-Ad	bronchial
36	chr18:8319600-8321000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr18:8319600-8321000	Genic enhancers	Left Ventricle	heart
38	chr18:8319800-8320400	Enhancers	Osteobl	bone
39	chr18:8319800-8320800	Enhancers	NH-A	brain
40	chr18:8319800-8323600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr18:8319800-8341600	Weak transcription	Adipose Nuclei	Adipose
42	chr18:8320000-8320200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr18:8320000-8320200	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr18:8320000-8320400	Enhancers	NHLF	lung
45	chr18:8320000-8320600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr18:8320000-8320800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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