Variant report

Variant	rs28669857
Chromosome Location	chr18:7790908-7790909
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1446083	0.92[ASN][1000 genomes]
rs28502140	0.98[ASN][1000 genomes]
rs58863549	0.98[ASN][1000 genomes]
rs59007236	0.98[ASN][1000 genomes]
rs7232461	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs73939363	0.85[ASN][1000 genomes]
rs73939373	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9946476	0.98[ASN][1000 genomes]
rs9953664	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv458016	chr18:7488133-7934001	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv576399	chr18:7488133-7934001	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2762810	chr18:7492090-7924728	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	nsv576425	chr18:7747873-7859757	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1062454	chr18:7784432-7838015	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7766800-7811200	Weak transcription	Aorta	Aorta
2	chr18:7767200-7812400	Weak transcription	Pancreas	Pancrea
3	chr18:7786600-7791800	Enhancers	A549	lung
4	chr18:7787600-7794800	Weak transcription	Right Atrium	heart
5	chr18:7787600-7797000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr18:7787600-7798200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:7787600-7804200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr18:7787800-7796400	Weak transcription	Right Ventricle	heart
9	chr18:7787800-7806600	Weak transcription	Thymus	Thymus
10	chr18:7789400-7791600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr18:7789600-7791000	Enhancers	Fetal Heart	heart
12	chr18:7789600-7791600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr18:7789600-7791600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr18:7789800-7804000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr18:7790000-7791000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr18:7790000-7791400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr18:7790000-7791600	Enhancers	Adipose Nuclei	Adipose
18	chr18:7790400-7791000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr18:7790400-7791200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr18:7790400-7791600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr18:7790400-7793800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr18:7790400-7793800	Weak transcription	Psoas Muscle	Psoas
23	chr18:7790400-7795400	Weak transcription	Brain Anterior Caudate	brain
24	chr18:7790400-7802000	Weak transcription	HepG2	liver
25	chr18:7790600-7791200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr18:7790600-7791600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr18:7790600-7793600	Weak transcription	Lung	lung
28	chr18:7790600-7794800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr18:7790600-7794800	Weak transcription	Left Ventricle	heart
30	chr18:7790600-7795400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr18:7790600-7796400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr18:7790600-7813400	Weak transcription	Fetal Thymus	thymus
33	chr18:7790800-7791000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr18:7790800-7792600	Weak transcription	Hela-S3	cervix

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