Variant report

Variant	rs62085549
Chromosome Location	chr18:8963234-8963235
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12965683	0.87[EUR][1000 genomes]
rs34156538	0.85[EUR][1000 genomes]
rs34226661	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35115628	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35357642	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35400380	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35932806	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62085550	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62085555	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62085557	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62087061	0.81[EUR][1000 genomes]
rs67018411	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67049201	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7235055	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7236549	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][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	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv870110	chr18:8958418-9075363	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3372463	chr18:8961352-8965650	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8959400-8969000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:8960000-8963800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:8960000-8963800	Enhancers	HMEC	breast
4	chr18:8960200-8963600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr18:8960200-8964400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr18:8960200-8970200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr18:8960400-8963600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr18:8960600-8963400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr18:8961000-8963400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr18:8961200-8963400	Enhancers	HepG2	liver
11	chr18:8961400-8963400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr18:8961600-8963400	Enhancers	A549	lung
13	chr18:8961600-8963600	Enhancers	NHEK	skin
14	chr18:8961600-8963800	Enhancers	Pancreas	Pancrea
15	chr18:8961800-8982400	Weak transcription	NHDF-Ad	bronchial
16	chr18:8962000-8963800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr18:8962200-8963400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr18:8962200-8963800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr18:8962400-8963400	Enhancers	Fetal Thymus	thymus
20	chr18:8962600-8963400	Enhancers	Brain Anterior Caudate	brain
21	chr18:8962600-8963600	Enhancers	K562	blood
22	chr18:8962800-8963400	Enhancers	Fetal Muscle Trunk	muscle
23	chr18:8962800-8963400	Enhancers	Stomach Mucosa	stomach
24	chr18:8962800-8963600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr18:8962800-8963600	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr18:8962800-8963800	Enhancers	Gastric	stomach
27	chr18:8963000-8963400	Enhancers	Lung	lung
28	chr18:8963000-8965400	Weak transcription	Fetal Brain Male	brain
29	chr18:8963000-8965400	Weak transcription	Fetal Heart	heart
30	chr18:8963200-8963400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr18:8963200-8963400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr18:8963200-8970200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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