Variant report

Variant	rs61427991
Chromosome Location	chr4:55119623-55119624
allele	C/T
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	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11942406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11944066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2412555	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57017227	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57947817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58663022	0.84[AFR][1000 genomes]
rs59187560	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73149599	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73151412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73151414	1.00[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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55105600-55124800	Weak transcription	Aorta	Aorta
2	chr4:55110000-55120200	Weak transcription	Fetal Lung	lung
3	chr4:55116400-55120200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:55117200-55129600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:55117400-55120400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:55117800-55120200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:55118000-55120800	Enhancers	NHDF-Ad	bronchial
8	chr4:55118000-55129800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr4:55118200-55120200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:55118400-55121000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:55118600-55120800	Enhancers	Ovary	ovary
12	chr4:55118600-55122400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:55119000-55127200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:55119000-55138600	Weak transcription	Fetal Intestine Small	intestine
15	chr4:55119200-55120400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:55119200-55122200	Enhancers	NHLF	lung
17	chr4:55119400-55119800	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr4:55119400-55120800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:55119400-55121600	Genic enhancers	Osteobl	bone
20	chr4:55119400-55122200	Weak transcription	Right Atrium	heart
21	chr4:55119400-55148000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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