Variant report

Variant	rs6450443
Chromosome Location	chr5:57142814-57142815
allele	A/G/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:13)

rs_ID	r²[population]
rs6450445	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6867553	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6872898	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6882767	0.94[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6884419	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6885633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73093730	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7705941	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7716769	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7716955	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7723226	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7726215	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7733688	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830310	chr5:56989346-57176006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2763454	chr5:57006531-57161140	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57138000-57143000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:57138200-57143600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:57138400-57143400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:57138800-57151800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:57139200-57143800	Weak transcription	HMEC	breast
6	chr5:57140600-57143600	Weak transcription	HSMM	muscle
7	chr5:57140600-57146000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:57140800-57147400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:57141000-57146000	Weak transcription	NHEK	skin
10	chr5:57142600-57143000	Enhancers	Fetal Muscle Leg	muscle
11	chr5:57142600-57144000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:57142800-57143400	Enhancers	Fetal Lung	lung
13	chr5:57142800-57144400	Enhancers	Fetal Brain Male	brain

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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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