Variant report

Variant	rs8087998
Chromosome Location	chr18:7958390-7958391
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16952768	0.81[CHB][hapmap]
rs17566436	0.82[CHB][hapmap]
rs17566499	0.81[CHB][hapmap]
rs17566876	0.90[CHB][hapmap]
rs36008832	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5003719	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6506540	0.91[CEU][hapmap];0.83[CHB][hapmap];0.88[JPT][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7228385	0.81[CHB][hapmap]
rs7234961	0.90[CHB][hapmap]
rs7237410	0.81[CHB][hapmap]
rs7241732	0.81[CHB][hapmap]
rs7244725	0.81[CHB][hapmap]
rs8096083	0.95[CEU][hapmap];0.91[CHB][hapmap];0.88[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9956729	0.83[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9960576	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9964296	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	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
5	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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7932200-7961000	Weak transcription	HepG2	liver
2	chr18:7941800-7966400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr18:7947200-7981400	Weak transcription	Fetal Stomach	stomach
4	chr18:7947400-7958400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr18:7947400-7959200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr18:7947400-7963400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr18:7947400-7963600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:7947400-7965600	Weak transcription	Thymus	Thymus
9	chr18:7947800-7958400	Weak transcription	Brain Anterior Caudate	brain
10	chr18:7947800-7958400	Weak transcription	Gastric	stomach
11	chr18:7947800-7958600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr18:7947800-7967600	Weak transcription	Primary T cells from cord blood	blood
13	chr18:7948000-7959600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr18:7948000-7965800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr18:7948000-7967200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr18:7948000-7975000	Weak transcription	Pancreas	Pancrea
17	chr18:7951000-7958600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr18:7951200-7963400	Weak transcription	Adipose Nuclei	Adipose
19	chr18:7951600-7958400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr18:7951600-7965800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr18:7953600-7958800	Weak transcription	Fetal Heart	heart
22	chr18:7953800-7958400	Enhancers	Hela-S3	cervix
23	chr18:7954400-7966000	Weak transcription	Fetal Kidney	kidney
24	chr18:7955000-7958400	Weak transcription	NH-A	brain
25	chr18:7955400-7958400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr18:7955400-7965200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr18:7955600-7958400	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr18:7955600-7962000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr18:7955600-7962400	Weak transcription	Psoas Muscle	Psoas
30	chr18:7955600-7963400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr18:7955800-7958400	Weak transcription	Ovary	ovary
32	chr18:7956000-7958400	Weak transcription	Fetal Intestine Large	intestine
33	chr18:7956000-7965000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr18:7956000-7966200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr18:7956000-7980800	Weak transcription	Fetal Thymus	thymus
36	chr18:7956000-7982400	Weak transcription	Fetal Muscle Leg	muscle
37	chr18:7956200-7962400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr18:7956800-7959800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr18:7957200-7958400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr18:7957400-7959000	Enhancers	GM12878-XiMat	blood
41	chr18:7957400-7960000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr18:7957600-7965200	Weak transcription	Lung	lung
43	chr18:7957600-7980600	Weak transcription	Right Ventricle	heart
44	chr18:7957800-7958400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr18:7957800-7958400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr18:7957800-7958600	Weak transcription	Right Atrium	heart
47	chr18:7957800-7958800	Weak transcription	Left Ventricle	heart
48	chr18:7958000-7958400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr18:7958000-7958400	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr18:7958000-7958400	Flanking Active TSS	A549	lung

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