Variant report

Variant	rs1447133
Chromosome Location	chr6:55694267-55694268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10456718	0.90[CHB][hapmap];0.81[EUR][1000 genomes]
rs12194491	0.88[CHB][hapmap]
rs12196302	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs12209573	0.90[CHB][hapmap]
rs17678251	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs17734678	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3798831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3823039	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62404966	0.91[EUR][1000 genomes]
rs62404968	0.90[EUR][1000 genomes]
rs6927700	0.90[CHB][hapmap];0.81[EUR][1000 genomes]
rs7769728	0.90[CHB][hapmap];0.81[EUR][1000 genomes]
rs7775292	0.80[JPT][hapmap];0.81[EUR][1000 genomes]
rs921126	0.94[CEU][hapmap];0.94[EUR][1000 genomes]
rs9689069	0.81[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	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

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55690600-55698000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr6:55693200-55698000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:55693200-55698200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr6:55693400-55695200	Weak transcription	Fetal Heart	heart
5	chr6:55693400-55700200	Weak transcription	Fetal Lung	lung
6	chr6:55693400-55701200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr6:55693800-55698000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:55694200-55696200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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