Variant report

Variant	rs62404993
Chromosome Location	chr6:55781226-55781227
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs61391371	0.87[EUR][1000 genomes]
rs62404989	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62404990	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62404994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62404997	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62404998	0.81[EUR][1000 genomes]
rs62404999	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62405002	0.86[AMR][1000 genomes]
rs62405034	0.86[AMR][1000 genomes]
rs62405035	0.86[AMR][1000 genomes]
rs62405036	0.86[AMR][1000 genomes]
rs62405037	0.86[AMR][1000 genomes]
rs62405041	0.86[AMR][1000 genomes]
rs62405042	0.86[AMR][1000 genomes]
rs62405043	0.86[AMR][1000 genomes]
rs62405044	0.86[AMR][1000 genomes]
rs6936317	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9464305	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9475468	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9475474	0.82[AMR][1000 genomes];1.00[EUR][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	nsv1034037	chr6:55222409-56069600	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2752670	chr6:55614978-55781605	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1024174	chr6:55713889-55829936	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1029301	chr6:55713889-55834480	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv830665	chr6:55755560-55920219	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55778400-55782200	Weak transcription	A549	lung
2	chr6:55778400-55782200	Weak transcription	NHDF-Ad	bronchial
3	chr6:55779000-55782000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr6:55780400-55784200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:55780600-55781400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:55780600-55782000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:55780800-55781400	Enhancers	Osteobl	bone
8	chr6:55780800-55781600	Enhancers	NH-A	brain
9	chr6:55780800-55781600	Enhancers	NHEK	skin
10	chr6:55780800-55782400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:55780800-55784600	Enhancers	Hela-S3	cervix
12	chr6:55780800-55784600	Enhancers	HSMM	muscle
13	chr6:55780800-55785000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr6:55781000-55781600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:55781000-55781800	Enhancers	HMEC	breast
16	chr6:55781200-55784400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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