Variant report

Variant	rs17009291
Chromosome Location	chr1:221204333-221204334
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17009202	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4587571	0.92[EUR][1000 genomes]
rs57878357	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58324444	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58487387	0.92[EUR][1000 genomes]
rs60162378	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60523812	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60688199	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60884344	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6693203	1.00[GIH][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73097451	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73097456	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73097458	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs73097461	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73097472	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73097476	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73097478	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73097479	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7515981	0.92[EUR][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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221194400-221205600	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr1:221196400-221206600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:221196600-221205800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:221196800-221204600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:221196800-221205000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:221199800-221209200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr1:221202000-221205200	Enhancers	Colon Smooth Muscle	Colon
8	chr1:221202200-221205400	Enhancers	Rectal Smooth Muscle	rectum
9	chr1:221202400-221205000	Enhancers	Fetal Stomach	stomach
10	chr1:221203000-221204400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr1:221203400-221204800	Weak transcription	Left Ventricle	heart
12	chr1:221203400-221206200	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:221203400-221209000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:221203800-221206200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:221204200-221205000	Enhancers	Primary B cells from cord blood	blood
16	chr1:221204200-221206000	Weak transcription	Fetal Lung	lung
17	chr1:221204200-221206200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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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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