Variant report

Variant	rs9948903
Chromosome Location	chr18:7892643-7892644
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11874030	1.00[EUR][1000 genomes]
rs11875998	1.00[EUR][1000 genomes]
rs1373180	1.00[EUR][1000 genomes]
rs1443606	1.00[EUR][1000 genomes]
rs16952586	1.00[EUR][1000 genomes]
rs2889681	1.00[EUR][1000 genomes]
rs56166372	1.00[EUR][1000 genomes]
rs57881458	1.00[EUR][1000 genomes]
rs58012227	1.00[EUR][1000 genomes]
rs59478955	1.00[EUR][1000 genomes]
rs60568466	1.00[EUR][1000 genomes]
rs7244492	1.00[EUR][1000 genomes]
rs73393528	1.00[EUR][1000 genomes]
rs73393529	1.00[EUR][1000 genomes]
rs73393534	1.00[EUR][1000 genomes]
rs9950569	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv458016	chr18:7488133-7934001	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv576399	chr18:7488133-7934001	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2762810	chr18:7492090-7924728	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7857800-7907200	Weak transcription	Thymus	Thymus
2	chr18:7873800-7896200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr18:7878600-7896600	Weak transcription	Aorta	Aorta
4	chr18:7878600-7901400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr18:7880600-7895400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr18:7880600-7896800	Weak transcription	Small Intestine	intestine
7	chr18:7881000-7896200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr18:7881200-7896400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr18:7886000-7895400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr18:7886800-7914200	Weak transcription	HepG2	liver
11	chr18:7887400-7896600	Weak transcription	Fetal Heart	heart
12	chr18:7887600-7896000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr18:7887600-7898400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr18:7890000-7895400	Weak transcription	Right Atrium	heart
15	chr18:7890000-7905600	Weak transcription	Fetal Thymus	thymus
16	chr18:7890000-7907200	Weak transcription	Lung	lung
17	chr18:7890400-7895400	Weak transcription	Psoas Muscle	Psoas
18	chr18:7890400-7896600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr18:7890400-7897000	Weak transcription	Fetal Muscle Leg	muscle
20	chr18:7890600-7895200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr18:7890600-7896400	Weak transcription	Adipose Nuclei	Adipose
22	chr18:7890600-7901800	Weak transcription	Fetal Lung	lung
23	chr18:7890600-7902200	Weak transcription	Fetal Stomach	stomach
24	chr18:7890800-7895000	Weak transcription	Fetal Intestine Small	intestine
25	chr18:7891600-7893000	Enhancers	Placenta	Placenta
26	chr18:7891600-7902400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr18:7891800-7892800	Enhancers	Right Ventricle	heart
28	chr18:7891800-7894200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr18:7891800-7896000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr18:7892000-7895200	Weak transcription	Left Ventricle	heart
31	chr18:7892400-7892800	Enhancers	A549	lung
32	chr18:7892600-7892800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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