Variant report

Variant	rs57017227
Chromosome Location	chr4:55109615-55109616
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11937644	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11942406	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11944066	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2412555	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57947817	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58663022	0.82[AFR][1000 genomes]
rs59187560	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61427991	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73149599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73151412	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73151414	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1002905	chr4:55093677-55115698	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1011682	chr4:55103816-55128149	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
5	esv3361986	chr4:55104114-55121279	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
6	nsv997422	chr4:55104743-55132489	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55101400-55110200	Weak transcription	Fetal Kidney	kidney
2	chr4:55103400-55110000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:55104000-55110000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:55104200-55110200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:55105600-55109800	ZNF genes & repeats	NHDF-Ad	bronchial
6	chr4:55105600-55124800	Weak transcription	Aorta	Aorta
7	chr4:55106400-55109800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr4:55107200-55118200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:55107800-55110000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:55107800-55110000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
11	chr4:55107800-55110200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:55108000-55109800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:55108600-55110000	ZNF genes & repeats	Fetal Lung	lung
14	chr4:55109000-55110000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:55109000-55110200	ZNF genes & repeats	Ovary	ovary
16	chr4:55109000-55110600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:55109000-55110600	ZNF genes & repeats	Fetal Stomach	stomach
18	chr4:55109200-55110400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:55109400-55117600	Weak transcription	Osteobl	bone
20	chr4:55109400-55119200	Weak transcription	NHLF	lung
21	chr4:55109600-55117600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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