Variant report

Variant	rs17009346
Chromosome Location	chr1:221248037-221248038
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221247620..221249501-chr12:125397057..125399856,2	K562	blood:

Variant related genes	Relation type
ENSG00000150991	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10746405	0.82[ASN][1000 genomes]
rs10863578	0.85[ASN][1000 genomes]
rs11118641	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118648	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11118652	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11118653	0.92[ASN][1000 genomes]
rs12121213	0.80[ASN][1000 genomes]
rs12127195	0.88[ASN][1000 genomes]
rs1596173	0.92[ASN][1000 genomes]
rs17009398	0.94[ASN][1000 genomes]
rs17009536	0.81[ASN][1000 genomes]
rs1935157	0.81[ASN][1000 genomes]
rs3920857	0.81[ASN][1000 genomes]
rs4142348	0.86[ASN][1000 genomes]
rs4142351	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4391670	0.82[ASN][1000 genomes]
rs4427411	0.88[ASN][1000 genomes]
rs4625285	0.85[ASN][1000 genomes]
rs4846682	0.82[ASN][1000 genomes]
rs4846684	0.83[ASN][1000 genomes]
rs4846685	0.83[ASN][1000 genomes]
rs55966903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58513421	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819242	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6670400	0.82[ASN][1000 genomes]
rs6687526	0.83[ASN][1000 genomes]
rs6687905	0.82[ASN][1000 genomes]
rs6693821	0.83[ASN][1000 genomes]
rs6698945	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs715300	0.93[ASN][1000 genomes]
rs72742507	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7354867	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7511784	0.93[ASN][1000 genomes]
rs7512831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7517729	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7522861	0.81[ASN][1000 genomes]
rs7523927	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7526270	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7542237	0.82[ASN][1000 genomes]
rs7544056	0.92[ASN][1000 genomes]
rs7554672	0.97[ASN][1000 genomes]
rs9431425	0.81[ASN][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	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
3	nsv873199	chr1:221136672-221451217	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221241400-221249400	Enhancers	Primary hematopoietic stem cells	blood
2	chr1:221243600-221249400	Enhancers	Primary B cells from cord blood	blood
3	chr1:221245800-221249400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:221247200-221250000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr1:221247400-221248400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr1:221247400-221248600	Enhancers	Primary B cells from peripheral blood	blood
7	chr1:221247400-221250000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr1:221247400-221250200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:221247400-221250400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:221247600-221248400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr1:221247600-221250400	Enhancers	Fetal Lung	lung
12	chr1:221247800-221248200	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:221248000-221248400	Enhancers	GM12878-XiMat	blood
14	chr1:221248000-221249000	Weak transcription	Spleen	Spleen
15	chr1:221248000-221249200	Weak transcription	Adipose Nuclei	Adipose
16	chr1:221248000-221250000	Weak transcription	NHDF-Ad	bronchial

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