Variant report

Variant	rs10948248
Chromosome Location	chr6:45672184-45672185
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10948245	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10948246	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12524499	0.89[EUR][1000 genomes]
rs1388243	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16873629	0.84[EUR][1000 genomes]
rs28579170	0.83[ASN][1000 genomes]
rs3925761	0.82[EUR][1000 genomes]
rs4714863	0.85[EUR][1000 genomes]
rs6919919	0.84[ASN][1000 genomes]
rs73735437	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73735442	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7752609	0.85[EUR][1000 genomes]
rs9349323	0.85[EUR][1000 genomes]
rs9357490	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9369568	0.84[EUR][1000 genomes]
rs9369569	0.85[EUR][1000 genomes]
rs9381392	0.84[EUR][1000 genomes]
rs9472555	0.85[ASN][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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45664200-45672400	Enhancers	Hela-S3	cervix
2	chr6:45668000-45672200	Weak transcription	HSMMtube	muscle
3	chr6:45668000-45678000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:45669400-45672400	Enhancers	NHDF-Ad	bronchial
5	chr6:45669600-45672400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:45670000-45672400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:45670000-45672400	Enhancers	NHEK	skin
8	chr6:45670000-45672600	Enhancers	HMEC	breast
9	chr6:45670200-45672400	Enhancers	NH-A	brain
10	chr6:45670600-45672600	Enhancers	Osteobl	bone
11	chr6:45670800-45672200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:45671000-45678000	Weak transcription	NHLF	lung
13	chr6:45671200-45678000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:45671400-45672200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr6:45671600-45673200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:45671800-45672200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:45671800-45672400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr6:45672000-45673000	Enhancers	HSMM	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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