Variant report

Variant	rs11809417
Chromosome Location	chr1:221101596-221101597
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:14)

rs_ID	r²[population]
rs10495153	0.88[EUR][1000 genomes]
rs10495154	0.88[EUR][1000 genomes]
rs11806418	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12565509	0.88[EUR][1000 genomes]
rs12566858	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12567705	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12568739	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009037	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17009060	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17009078	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35014198	0.85[EUR][1000 genomes]
rs6678259	0.87[EUR][1000 genomes]
rs7418458	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs945447	0.84[AMR][1000 genomes];0.92[EUR][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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221099200-221102800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:221099400-221102800	Enhancers	Primary hematopoietic stem cells	blood
3	chr1:221099600-221102800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr1:221099800-221104200	Weak transcription	Psoas Muscle	Psoas
5	chr1:221100000-221102200	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:221100200-221104600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:221100600-221102000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:221100800-221102000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:221100800-221102600	Enhancers	Thymus	Thymus
10	chr1:221101200-221102200	Weak transcription	Pancreas	Pancrea
11	chr1:221101200-221102400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr1:221101200-221102400	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr1:221101200-221102800	Enhancers	Fetal Thymus	thymus
14	chr1:221101400-221101800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:221101400-221103000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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