Variant report

Variant	rs4977725
Chromosome Location	chr9:21452829-21452830
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10811543	0.92[CHB][hapmap];0.87[JPT][hapmap]
rs10811544	0.88[ASN][1000 genomes]
rs10964996	0.80[EUR][1000 genomes]
rs10965003	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10965004	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1332190	0.83[JPT][hapmap]
rs1815460	0.82[ASN][1000 genomes]
rs1819462	0.94[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs1888889	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs2383191	0.88[ASN][1000 genomes]
rs2383192	0.94[JPT][hapmap]
rs3861009	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6475535	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7861480	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7869107	0.88[ASN][1000 genomes]
rs7869315	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892724	chr9:20690244-21517302	Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
2	esv2752289	chr9:21361957-21499624	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv466297	chr9:21391698-21507589	Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv613758	chr9:21391698-21507589	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv892739	chr9:21407250-21470520	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21448400-21455400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr9:21449400-21453800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr9:21449600-21453800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr9:21449800-21453800	Weak transcription	NHEK	skin
5	chr9:21450200-21453200	Weak transcription	HMEC	breast
6	chr9:21450600-21453800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:21451200-21453000	Enhancers	Placenta	Placenta
8	chr9:21451400-21453000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:21451400-21453800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr9:21451400-21458800	Weak transcription	A549	lung
11	chr9:21451600-21453200	Weak transcription	NH-A	brain
12	chr9:21451800-21453600	Weak transcription	Hela-S3	cervix
13	chr9:21451800-21453800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr9:21451800-21454000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr9:21451800-21455000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:21451800-21457600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr9:21452200-21453800	Weak transcription	Osteobl	bone
18	chr9:21452400-21455600	Weak transcription	NHLF	lung
19	chr9:21452800-21453000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:21452800-21453000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr9:21452800-21453800	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr9:21452800-21454800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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