Variant report

Variant	rs1218660
Chromosome Location	chr1:239699830-239699831
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10802775	0.80[EUR][1000 genomes]
rs12034521	0.80[EUR][1000 genomes]
rs1338914	0.80[EUR][1000 genomes]
rs16838528	0.80[EUR][1000 genomes]
rs1782352	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1796828	0.83[EUR][1000 genomes]
rs1796829	0.83[EUR][1000 genomes]
rs1899620	0.80[EUR][1000 genomes]
rs20437	0.83[EUR][1000 genomes]
rs34987466	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs58532785	0.83[EUR][1000 genomes]
rs58734274	0.83[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	nsv1002301	chr1:239182255-239774393	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv549435	chr1:239375010-239974006	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3377526	chr1:239623743-240111639	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv873351	chr1:239636613-240324200	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr1:239680200-239700400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:239699200-239700600	Weak transcription	Ovary	ovary
3	chr1:239699200-239702400	Enhancers	Stomach Smooth Muscle	stomach
4	chr1:239699200-239702600	Enhancers	Rectal Smooth Muscle	rectum
5	chr1:239699400-239702600	Weak transcription	Pancreas	Pancrea
6	chr1:239699400-239703200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:239699600-239700800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:239699600-239703600	Enhancers	Colon Smooth Muscle	Colon

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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