Variant report

Variant	rs73433065
Chromosome Location	chr18:44287468-44287469
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57248155	1.00[AMR][1000 genomes]
rs58933766	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59096021	1.00[AMR][1000 genomes]
rs60454282	0.91[AFR][1000 genomes]
rs60527148	1.00[AMR][1000 genomes]
rs60870197	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61397117	1.00[AMR][1000 genomes]
rs61710689	1.00[AMR][1000 genomes]
rs73433006	1.00[AMR][1000 genomes]
rs73433008	1.00[AMR][1000 genomes]
rs73433031	1.00[AMR][1000 genomes]
rs73433034	1.00[AMR][1000 genomes]
rs73433062	1.00[AMR][1000 genomes]
rs73433066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73433076	1.00[AMR][1000 genomes]
rs73434908	1.00[AMR][1000 genomes]
rs8099322	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428355	chr18:44160181-44406285	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv909589	chr18:44279892-44330604	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv909590	chr18:44279892-44332911	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv909591	chr18:44279892-44370518	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv909592	chr18:44279892-44385150	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv909593	chr18:44279892-44396246	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv909594	chr18:44279892-44400621	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv909595	chr18:44279892-44422661	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44253000-44291400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr18:44273200-44288000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:44283800-44287600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr18:44284800-44288600	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr18:44285200-44291600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr18:44285800-44290000	Weak transcription	Psoas Muscle	Psoas
7	chr18:44286400-44288000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr18:44286600-44287600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr18:44286600-44288000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr18:44286600-44288400	Enhancers	Brain Germinal Matrix	brain
11	chr18:44286800-44287600	Enhancers	HMEC	breast
12	chr18:44286800-44287800	Enhancers	NHDF-Ad	bronchial
13	chr18:44286800-44288000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr18:44286800-44290600	Weak transcription	Left Ventricle	heart
15	chr18:44286800-44291600	Weak transcription	Brain Hippocampus Middle	brain
16	chr18:44286800-44291600	Weak transcription	Brain Substantia Nigra	brain
17	chr18:44286800-44298800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr18:44287000-44287600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr18:44287000-44287600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr18:44287000-44287600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr18:44287000-44287600	Enhancers	NHEK	skin
22	chr18:44287200-44287600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr18:44287200-44289800	Weak transcription	Fetal Heart	heart
24	chr18:44287200-44290800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr18:44287200-44291000	Weak transcription	Brain Angular Gyrus	brain
26	chr18:44287400-44287600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr18:44287400-44291600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr18:44287400-44291800	Weak transcription	NHLF	lung

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