Variant report

Variant	rs2412555
Chromosome Location	chr4:55117417-55117418
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	0.91[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11944066	0.86[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57017227	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	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61427991	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73149599	0.95[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	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
4	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
5	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
6	nsv1008497	chr4:55115691-55128149	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55105600-55124800	Weak transcription	Aorta	Aorta
2	chr4:55107200-55118200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:55109400-55117600	Weak transcription	Osteobl	bone
4	chr4:55109400-55119200	Weak transcription	NHLF	lung
5	chr4:55109600-55117600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:55109800-55118000	Weak transcription	NHDF-Ad	bronchial
7	chr4:55110000-55120200	Weak transcription	Fetal Lung	lung
8	chr4:55110200-55117800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:55110200-55117800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:55110800-55118600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:55116400-55120200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:55116800-55118000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
13	chr4:55117200-55129600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:55117400-55120400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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