Variant report

Variant	rs56844394
Chromosome Location	chr5:167182931-167182932
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1023629	0.96[ASN][1000 genomes]
rs12519097	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17069080	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17069140	0.83[AMR][1000 genomes]
rs17069150	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3749800	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4357058	0.88[AMR][1000 genomes]
rs60893801	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6873862	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs719254	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73801366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1032559	chr5:167070888-167210684	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr5:167178600-167186200	Weak transcription	Osteobl	bone
2	chr5:167180400-167185200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr5:167181200-167185200	Weak transcription	NHEK	skin
4	chr5:167181400-167183000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr5:167181400-167185000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:167181800-167183000	Flanking Active TSS	NHDF-Ad	bronchial
7	chr5:167181800-167183400	Enhancers	HSMMtube	muscle
8	chr5:167182200-167183000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:167182200-167191800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:167182400-167183400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:167182400-167184000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:167182400-167185200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:167182400-167185200	Weak transcription	NH-A	brain
14	chr5:167182400-167190200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr5:167182800-167183000	Flanking Active TSS	HSMM	muscle
16	chr5:167182800-167183400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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