Variant report

Variant	rs10948245
Chromosome Location	chr6:45649619-45649620
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10948246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10948248	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12524499	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1388243	1.00[CEU][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16873629	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28579170	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3925761	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4714863	0.91[EUR][1000 genomes]
rs73735437	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73735442	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7752609	0.91[EUR][1000 genomes]
rs9349323	0.91[EUR][1000 genomes]
rs9357490	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9369568	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9369569	0.91[EUR][1000 genomes]
rs9381392	0.91[EUR][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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45645600-45649800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:45646800-45650400	ZNF genes & repeats	GM12878-XiMat	blood
3	chr6:45647800-45650800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
4	chr6:45649400-45649800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:45649400-45650400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:45649600-45649800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
7	chr6:45649600-45649800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
8	chr6:45649600-45650000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:45649600-45650000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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