Variant report

Variant	rs73737131
Chromosome Location	chr6:48794272-48794273
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs55691537	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55717632	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60528836	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60943231	1.00[AMR][1000 genomes]
rs61204067	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61413351	1.00[AMR][1000 genomes]
rs73737116	1.00[AMR][1000 genomes]
rs73737118	1.00[AMR][1000 genomes]
rs73737124	1.00[AMR][1000 genomes]
rs73737129	1.00[AMR][1000 genomes]
rs73737130	1.00[AFR][1000 genomes]
rs73737132	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73737137	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73737138	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73737139	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73737140	1.00[AMR][1000 genomes]
rs73737141	1.00[AMR][1000 genomes]
rs73737142	1.00[AMR][1000 genomes]
rs73737143	1.00[AMR][1000 genomes]
rs73737145	1.00[AMR][1000 genomes]
rs7750441	0.91[AFR][1000 genomes];1.00[AMR][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	nsv1033151	chr6:48067287-48797029	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv538217	chr6:48067287-48797029	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv949690	chr6:48595821-49289855	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr6:48786200-48796000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:48793200-48794400	Enhancers	HSMM	muscle
3	chr6:48793200-48794400	Enhancers	NHEK	skin
4	chr6:48793200-48794600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
5	chr6:48793200-48795000	Flanking Active TSS	HUVEC	blood vessel
6	chr6:48793200-48795200	Active TSS	A549	lung
7	chr6:48793400-48794400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:48793400-48794400	Enhancers	HMEC	breast
9	chr6:48793400-48794600	Flanking Active TSS	NH-A	brain
10	chr6:48793400-48794800	Active TSS	NHLF	lung
11	chr6:48793400-48795600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:48793400-48795800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:48793600-48795800	Enhancers	NHDF-Ad	bronchial
14	chr6:48793800-48794400	Enhancers	Hela-S3	cervix
15	chr6:48793800-48794800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:48794000-48794800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:48794200-48794800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:48794200-48794800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:48794200-48794800	Enhancers	Osteobl	bone
20	chr6:48794200-48795400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:48794200-48797000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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