Variant report

Variant	rs73389714
Chromosome Location	chr18:8138000-8138001
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8127290..8130264-chr18:8136614..8139222,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16952891	0.80[AFR][1000 genomes]
rs16952916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16952937	0.87[AMR][1000 genomes]
rs57200436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6506550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7228059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7234200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73387785	0.85[AMR][1000 genomes]
rs73387789	0.85[AMR][1000 genomes]
rs73387791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73389709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73389722	0.85[AMR][1000 genomes]
rs73389724	1.00[AMR][1000 genomes]
rs73389726	1.00[AMR][1000 genomes]
rs8095157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8099055	0.96[AFR][1000 genomes];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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8103600-8139200	Weak transcription	Brain Anterior Caudate	brain
2	chr18:8110400-8138600	Weak transcription	Fetal Muscle Leg	muscle
3	chr18:8117400-8153200	Weak transcription	Liver	Liver
4	chr18:8119200-8138200	Weak transcription	Ovary	ovary
5	chr18:8121200-8145600	Weak transcription	Primary T cells from cord blood	blood
6	chr18:8122400-8157400	Weak transcription	Aorta	Aorta
7	chr18:8122400-8160400	Weak transcription	Thymus	Thymus
8	chr18:8125200-8138600	Weak transcription	Adipose Nuclei	Adipose
9	chr18:8125200-8138600	Weak transcription	Lung	lung
10	chr18:8125200-8141000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr18:8125800-8138800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr18:8125800-8139200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr18:8126200-8139400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr18:8126800-8153200	Weak transcription	A549	lung
15	chr18:8131200-8139200	Weak transcription	NHDF-Ad	bronchial
16	chr18:8133000-8144000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr18:8133200-8141000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr18:8133400-8139200	Weak transcription	HSMM	muscle
19	chr18:8135800-8143600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr18:8136200-8139200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr18:8136600-8139000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr18:8136800-8139200	Weak transcription	Fetal Lung	lung
23	chr18:8137200-8140200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr18:8137200-8141600	Enhancers	Left Ventricle	heart
25	chr18:8137400-8140400	Enhancers	Spleen	Spleen
26	chr18:8137400-8142600	Enhancers	Right Ventricle	heart
27	chr18:8137400-8153400	Weak transcription	Placenta	Placenta
28	chr18:8137600-8138000	Weak transcription	Psoas Muscle	Psoas
29	chr18:8137600-8138600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr18:8137600-8138600	Weak transcription	Pancreas	Pancrea
31	chr18:8137800-8139600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr18:8137800-8140400	Enhancers	K562	blood
33	chr18:8138000-8140400	Enhancers	Psoas Muscle	Psoas

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