Variant report

Variant	rs12565509
Chromosome Location	chr1:221082526-221082527
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10495153	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10495154	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11806418	0.88[EUR][1000 genomes]
rs11809417	0.88[EUR][1000 genomes]
rs12566858	0.88[EUR][1000 genomes]
rs12567705	0.85[EUR][1000 genomes]
rs12568739	0.88[EUR][1000 genomes]
rs17009037	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17009060	0.85[EUR][1000 genomes]
rs17009078	0.88[EUR][1000 genomes]
rs2807861	0.84[ASN][1000 genomes]
rs35014198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3820355	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6541166	0.98[ASN][1000 genomes]
rs6678259	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73108353	0.98[ASN][1000 genomes]
rs7418458	0.88[EUR][1000 genomes]
rs945447	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 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	chr1:221080600-221090200	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:221081000-221082600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:221081600-221082600	Enhancers	Primary B cells from peripheral blood	blood
4	chr1:221081800-221082600	Enhancers	Liver	Liver
5	chr1:221082200-221087200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:221082400-221087000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:221082400-221087200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr1:221082400-221087400	Weak transcription	Primary monocytes fromperipheralblood	blood

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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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