Variant report

Variant	rs11876454
Chromosome Location	chr18:8159636-8159637
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1035067	0.83[AMR][1000 genomes]
rs11874504	0.93[YRI][hapmap];0.97[AFR][1000 genomes]
rs73389762	1.00[AMR][1000 genomes]
rs73389764	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8122400-8160400	Weak transcription	Thymus	Thymus
2	chr18:8142600-8160200	Weak transcription	Psoas Muscle	Psoas
3	chr18:8142600-8162400	Weak transcription	Right Ventricle	heart
4	chr18:8146200-8162600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr18:8152000-8167200	Weak transcription	Gastric	stomach
6	chr18:8154200-8161000	Weak transcription	NH-A	brain
7	chr18:8154200-8162600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr18:8154600-8160600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr18:8154600-8163000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr18:8154800-8160200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr18:8154800-8161800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr18:8155200-8162600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr18:8156600-8161600	Weak transcription	HepG2	liver
14	chr18:8157600-8167000	Weak transcription	Brain Anterior Caudate	brain
15	chr18:8157800-8160800	Weak transcription	Brain Angular Gyrus	brain
16	chr18:8158000-8159800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr18:8158000-8165400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr18:8158800-8160400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr18:8159000-8161200	Weak transcription	A549	lung
20	chr18:8159000-8162400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr18:8159000-8162400	Weak transcription	Adipose Nuclei	Adipose
22	chr18:8159000-8162400	Weak transcription	Left Ventricle	heart
23	chr18:8159000-8162400	Weak transcription	Lung	lung
24	chr18:8159000-8166200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr18:8159000-8166200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr18:8159000-8167000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr18:8159000-8167000	Weak transcription	Aorta	Aorta
28	chr18:8159000-8167200	Weak transcription	Fetal Lung	lung
29	chr18:8159000-8169600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr18:8159000-8170200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr18:8159000-8176600	Weak transcription	Pancreas	Pancrea
32	chr18:8159000-8177400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr18:8159200-8168800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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