Variant report

Variant	rs4130758
Chromosome Location	chr18:8243513-8243514
allele	G/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:7)

rs_ID	r²[population]
rs12953765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12962826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12963007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12964764	0.81[ASN][1000 genomes]
rs12965296	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34816086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7504663	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	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	nsv1055995	chr18:8222469-8271135	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8191200-8288600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr18:8211600-8265000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr18:8217800-8257800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr18:8225800-8244000	Weak transcription	Aorta	Aorta
5	chr18:8227000-8253200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:8227200-8255000	Weak transcription	A549	lung
7	chr18:8227400-8254000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr18:8230200-8254200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr18:8231400-8245000	Weak transcription	Ovary	ovary
10	chr18:8231400-8265000	Weak transcription	Pancreas	Pancrea
11	chr18:8231600-8247600	Weak transcription	Adipose Nuclei	Adipose
12	chr18:8233000-8244800	Weak transcription	Thymus	Thymus
13	chr18:8233200-8253200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr18:8235000-8260400	Weak transcription	Psoas Muscle	Psoas
15	chr18:8238800-8243800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr18:8239600-8243800	Weak transcription	Left Ventricle	heart
17	chr18:8239600-8253200	Weak transcription	Right Ventricle	heart
18	chr18:8239600-8264000	Weak transcription	HepG2	liver
19	chr18:8240400-8247600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr18:8241200-8263600	Weak transcription	Fetal Lung	lung
21	chr18:8241600-8244600	Weak transcription	Fetal Thymus	thymus
22	chr18:8242000-8244800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr18:8242200-8244000	Weak transcription	Liver	Liver
24	chr18:8242200-8245000	Weak transcription	Fetal Stomach	stomach
25	chr18:8242200-8252000	Weak transcription	Colon Smooth Muscle	Colon
26	chr18:8242200-8252400	Weak transcription	Fetal Brain Female	brain
27	chr18:8242400-8245200	Weak transcription	Brain Anterior Caudate	brain
28	chr18:8242400-8247800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr18:8242400-8254800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr18:8242400-8260600	Weak transcription	Brain Hippocampus Middle	brain
31	chr18:8242400-8261000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr18:8242400-8264000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr18:8242600-8244600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr18:8242600-8244600	Weak transcription	Fetal Muscle Leg	muscle
35	chr18:8242600-8251000	Weak transcription	Brain Substantia Nigra	brain
36	chr18:8242600-8253000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr18:8242600-8254000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr18:8242600-8260600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr18:8243000-8244800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr18:8243400-8243800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr18:8243400-8263000	Weak transcription	Gastric	stomach

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