Variant report

Variant	rs2009416
Chromosome Location	chr5:92415111-92415112
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10078721	0.81[ASN][1000 genomes]
rs10514370	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1496337	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs163947	0.81[AMR][1000 genomes]
rs163949	0.81[ASN][1000 genomes]
rs1845840	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs250269	0.81[ASN][1000 genomes]
rs2578490	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4489042	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015770	chr5:91911877-92498264	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1022712	chr5:92191693-92415111	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1028930	chr5:92194772-92415111	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv830399	chr5:92290915-92462490	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr5:92413000-92415200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr5:92413000-92415800	Enhancers	HSMMtube	muscle
3	chr5:92413200-92415200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:92413200-92415200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr5:92413800-92415200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:92413800-92415200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:92413800-92415200	Enhancers	Fetal Heart	heart
8	chr5:92414000-92415200	Enhancers	Adipose Nuclei	Adipose
9	chr5:92414000-92415200	Enhancers	Right Atrium	heart
10	chr5:92414000-92415200	Enhancers	NHEK	skin
11	chr5:92414400-92415200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:92414400-92415200	Enhancers	Liver	Liver
13	chr5:92414600-92415200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:92414600-92415200	Enhancers	Osteobl	bone
15	chr5:92414800-92415200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:92414800-92415200	Enhancers	Hela-S3	cervix
17	chr5:92415000-92415200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:92415000-92415200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:92415000-92415200	Enhancers	HMEC	breast
20	chr5:92415000-92415200	Enhancers	HSMM	muscle
21	chr5:92415000-92415200	Enhancers	HUVEC	blood vessel
22	chr5:92415000-92415200	Enhancers	NH-A	brain
23	chr5:92415000-92415200	Enhancers	NHDF-Ad	bronchial
24	chr5:92415000-92415600	Enhancers	A549	lung
25	chr5:92415000-92415600	Enhancers	NHLF	lung
26	chr5:92415000-92415800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr5:92415000-92416200	Enhancers	HepG2	liver
28	chr5:92415000-92419800	Weak transcription	Fetal Kidney	kidney

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