Variant report

Variant	rs73389724
Chromosome Location	chr18:8141460-8141461
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16952916	1.00[AMR][1000 genomes]
rs16952937	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2080108	0.81[AFR][1000 genomes]
rs2098265	0.84[AFR][1000 genomes]
rs57200436	1.00[AMR][1000 genomes]
rs6506550	1.00[AMR][1000 genomes]
rs7228059	1.00[AMR][1000 genomes]
rs7234200	1.00[AMR][1000 genomes]
rs73387785	0.85[AMR][1000 genomes]
rs73387789	0.85[AMR][1000 genomes]
rs73387791	1.00[AMR][1000 genomes]
rs73389709	1.00[AMR][1000 genomes]
rs73389714	1.00[AMR][1000 genomes]
rs73389722	0.85[AMR][1000 genomes]
rs73389726	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8095157	1.00[AMR][1000 genomes]
rs8099055	0.87[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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8117400-8153200	Weak transcription	Liver	Liver
2	chr18:8121200-8145600	Weak transcription	Primary T cells from cord blood	blood
3	chr18:8122400-8157400	Weak transcription	Aorta	Aorta
4	chr18:8122400-8160400	Weak transcription	Thymus	Thymus
5	chr18:8126800-8153200	Weak transcription	A549	lung
6	chr18:8133000-8144000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr18:8135800-8143600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr18:8137200-8141600	Enhancers	Left Ventricle	heart
9	chr18:8137400-8142600	Enhancers	Right Ventricle	heart
10	chr18:8137400-8153400	Weak transcription	Placenta	Placenta
11	chr18:8138200-8142600	Enhancers	Ovary	ovary
12	chr18:8139000-8158800	Weak transcription	Pancreas	Pancrea
13	chr18:8139200-8141600	Enhancers	Colon Smooth Muscle	Colon
14	chr18:8139200-8141600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr18:8139200-8142600	Enhancers	HSMM	muscle
16	chr18:8139200-8142600	Enhancers	NHDF-Ad	bronchial
17	chr18:8139200-8143000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr18:8139200-8143000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr18:8139400-8142600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr18:8139400-8143200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr18:8139600-8142200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr18:8139600-8142800	Enhancers	Osteobl	bone
23	chr18:8139600-8143800	Weak transcription	Fetal Lung	lung
24	chr18:8139600-8144000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr18:8139600-8144200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr18:8139600-8151000	Weak transcription	Fetal Stomach	stomach
27	chr18:8139800-8142800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr18:8139800-8147000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr18:8140000-8153200	Weak transcription	Fetal Heart	heart
30	chr18:8140200-8142400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr18:8140200-8143800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr18:8140200-8145400	Weak transcription	Fetal Muscle Leg	muscle
33	chr18:8140200-8146800	Weak transcription	Fetal Brain Male	brain
34	chr18:8140800-8141600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr18:8140800-8141600	Enhancers	Right Atrium	heart
36	chr18:8140800-8142600	Enhancers	Psoas Muscle	Psoas
37	chr18:8140800-8143000	Enhancers	K562	blood
38	chr18:8141000-8141600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr18:8141000-8141600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr18:8141000-8141600	Enhancers	HMEC	breast
41	chr18:8141000-8141600	Enhancers	NHEK	skin
42	chr18:8141000-8142600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr18:8141000-8142800	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr18:8141000-8142800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr18:8141000-8143000	Enhancers	NH-A	brain
46	chr18:8141200-8141600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr18:8141200-8141600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr18:8141200-8141600	Enhancers	Esophagus	oesophagus
49	chr18:8141200-8141600	Enhancers	Lung	lung
50	chr18:8141200-8141600	Enhancers	Rectal Smooth Muscle	rectum

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