Variant report

Variant	rs28704912
Chromosome Location	chr18:7928034-7928035
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17566436	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17566499	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17566876	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28376185	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs60434124	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60647787	0.83[EUR][1000 genomes]
rs62090937	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62090939	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62090940	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7228385	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7232132	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7232467	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7234961	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7240783	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9949116	0.84[AMR][1000 genomes];0.80[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	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	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
5	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
6	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
7	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7922400-7940600	Weak transcription	Gastric	stomach
2	chr18:7923000-7936200	Weak transcription	Thymus	Thymus
3	chr18:7923400-7932400	Weak transcription	HSMM	muscle
4	chr18:7923400-7937400	Weak transcription	Right Ventricle	heart
5	chr18:7923400-7945800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr18:7923600-7937000	Weak transcription	Adipose Nuclei	Adipose
7	chr18:7923800-7928200	Weak transcription	Colon Smooth Muscle	Colon
8	chr18:7923800-7936800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr18:7924400-7940400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr18:7925000-7933000	Weak transcription	Right Atrium	heart
11	chr18:7925000-7936200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr18:7925200-7931800	Weak transcription	HepG2	liver
13	chr18:7925800-7940400	Weak transcription	Fetal Muscle Leg	muscle
14	chr18:7926000-7931800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr18:7926000-7936600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr18:7926200-7936200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr18:7926400-7940200	Weak transcription	Brain Germinal Matrix	brain
18	chr18:7926400-7945200	Weak transcription	Ovary	ovary
19	chr18:7926800-7929800	Weak transcription	Psoas Muscle	Psoas
20	chr18:7926800-7936600	Weak transcription	Fetal Stomach	stomach
21	chr18:7926800-7945600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr18:7926800-7945800	Weak transcription	Fetal Lung	lung
23	chr18:7927200-7928200	Strong transcription	Fetal Thymus	thymus
24	chr18:7927400-7928400	Enhancers	A549	lung
25	chr18:7927400-7936400	Weak transcription	Aorta	Aorta
26	chr18:7927400-7939800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr18:7927400-7940200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr18:7927800-7928200	Strong transcription	Left Ventricle	heart
29	chr18:7927800-7929200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr18:7927800-7929400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr18:7927800-7936000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr18:7927800-7937400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr18:7927800-7946600	Weak transcription	Fetal Kidney	kidney
34	chr18:7928000-7931800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr18:7928000-7946600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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