Variant report

Variant	rs16939979
Chromosome Location	chr18:44287032-44287033
allele	A/C
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:11)

rs_ID	r²[population]
rs55666361	1.00[EUR][1000 genomes]
rs56395286	1.00[EUR][1000 genomes]
rs58095490	1.00[EUR][1000 genomes]
rs61401307	1.00[EUR][1000 genomes]
rs61611817	1.00[EUR][1000 genomes]
rs73953884	1.00[EUR][1000 genomes]
rs73953885	1.00[EUR][1000 genomes]
rs73953886	1.00[EUR][1000 genomes]
rs73953887	1.00[EUR][1000 genomes]
rs73953888	1.00[EUR][1000 genomes]
rs73953889	1.00[EUR][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:32 , 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	chr18:44285400-44287400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:44285600-44287200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr18:44285800-44290000	Weak transcription	Psoas Muscle	Psoas
9	chr18:44286400-44287200	Enhancers	Brain Angular Gyrus	brain
10	chr18:44286400-44288000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr18:44286600-44287200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr18:44286600-44287200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr18:44286600-44287200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr18:44286600-44287200	Enhancers	Fetal Heart	heart
15	chr18:44286600-44287600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr18:44286600-44288000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr18:44286600-44288400	Enhancers	Brain Germinal Matrix	brain
18	chr18:44286800-44287200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr18:44286800-44287200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr18:44286800-44287400	Enhancers	NHLF	lung
21	chr18:44286800-44287600	Enhancers	HMEC	breast
22	chr18:44286800-44287800	Enhancers	NHDF-Ad	bronchial
23	chr18:44286800-44288000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr18:44286800-44290600	Weak transcription	Left Ventricle	heart
25	chr18:44286800-44291600	Weak transcription	Brain Hippocampus Middle	brain
26	chr18:44286800-44291600	Weak transcription	Brain Substantia Nigra	brain
27	chr18:44286800-44298800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr18:44287000-44287400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr18:44287000-44287600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr18:44287000-44287600	Enhancers	H9 Cell Line	embryonic stem cell
31	chr18:44287000-44287600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr18:44287000-44287600	Enhancers	NHEK	skin

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