Variant report

Variant	rs73450209
Chromosome Location	chr6:55730332-55730333
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:14)

rs_ID	r²[population]
rs11965332	1.00[AMR][1000 genomes]
rs2021804	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2021805	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35124644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57238989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58648346	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59302865	1.00[AMR][1000 genomes]
rs6911684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73444297	1.00[AMR][1000 genomes]
rs73450204	1.00[AMR][1000 genomes]
rs73450206	1.00[AFR][1000 genomes]
rs73450212	1.00[AMR][1000 genomes]
rs73450213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73457035	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034037	chr6:55222409-56069600	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2752670	chr6:55614978-55781605	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1032684	chr6:55680473-55766876	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024174	chr6:55713889-55829936	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1029301	chr6:55713889-55834480	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55714000-55733200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:55728200-55733400	Enhancers	Fetal Heart	heart
3	chr6:55729000-55733400	Weak transcription	Placenta	Placenta
4	chr6:55729400-55730600	Weak transcription	Fetal Lung	lung
5	chr6:55730000-55732200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:55730200-55730800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr6:55730200-55731200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr6:55730200-55732000	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr6:55730200-55732800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:55730200-55733600	Enhancers	Hela-S3	cervix
11	chr6:55730200-55735200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:55730200-55735200	Enhancers	NHEK	skin

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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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