Variant report

Variant	rs73205992
Chromosome Location	chr5:106457965-106457966
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11950214	1.00[EUR][1000 genomes]
rs11953142	1.00[EUR][1000 genomes]
rs11954502	1.00[EUR][1000 genomes]
rs58234723	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6861072	1.00[EUR][1000 genomes]
rs6861950	1.00[EUR][1000 genomes]
rs6871732	1.00[EUR][1000 genomes]
rs6881152	1.00[EUR][1000 genomes]
rs7705311	1.00[EUR][1000 genomes]
rs9686600	1.00[EUR][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	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv823170	chr5:106326293-106673695	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv599332	chr5:106403516-106502006	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2752056	chr5:106422649-106563101	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 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	chr5:106454800-106458600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:106455400-106458800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:106455400-106459200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:106456200-106458800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:106456400-106458800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:106456400-106458800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:106456800-106459600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:106457000-106458200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr5:106457400-106458200	Enhancers	Fetal Heart	heart

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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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