Variant report

Variant	rs17009393
Chromosome Location	chr1:221274916-221274917
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11803580	1.00[AMR][1000 genomes]
rs11810901	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17009368	1.00[AMR][1000 genomes]
rs17009371	1.00[AMR][1000 genomes]
rs7528553	1.00[AMR][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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221269400-221275000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:221270000-221275600	Enhancers	Adipose Nuclei	Adipose
3	chr1:221270200-221276400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:221270200-221276400	Enhancers	NHDF-Ad	bronchial
5	chr1:221270800-221275600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:221270800-221276200	Enhancers	NHLF	lung
7	chr1:221271200-221275600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr1:221271400-221275200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:221271400-221275800	Enhancers	Hela-S3	cervix
10	chr1:221272000-221276400	Enhancers	Osteobl	bone
11	chr1:221272400-221276000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:221273200-221276400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:221273200-221278600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr1:221273400-221275000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:221273400-221275600	Enhancers	Colon Smooth Muscle	Colon
16	chr1:221273600-221275000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:221273600-221275600	Enhancers	Fetal Lung	lung
18	chr1:221273600-221276200	Enhancers	HSMM	muscle
19	chr1:221273600-221276200	Enhancers	HSMMtube	muscle
20	chr1:221274400-221275400	Weak transcription	A549	lung
21	chr1:221274400-221275800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:221274400-221275800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:221274600-221275000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:221274600-221275800	Enhancers	NH-A	brain
25	chr1:221274600-221277000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr1:221274800-221275600	Enhancers	Fetal Kidney	kidney
27	chr1:221274800-221276000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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