Variant report

Variant	rs17010091
Chromosome Location	chr1:221651301-221651302
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10158337	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10159173	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13373986	0.83[EUR][1000 genomes]
rs13375835	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1599086	0.83[EUR][1000 genomes]
rs17010163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17010165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61553069	0.83[EUR][1000 genomes]
rs6699367	1.00[YRI][hapmap];0.99[AFR][1000 genomes]
rs74146104	0.83[EUR][1000 genomes]
rs7549150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9660276	0.83[EUR][1000 genomes]
rs9724647	0.83[EUR][1000 genomes]
rs9724682	0.83[EUR][1000 genomes]
rs9727723	0.83[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	nsv873200	chr1:221644180-221843191	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221650200-221651800	Enhancers	Fetal Muscle Leg	muscle
2	chr1:221650600-221652600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:221651000-221651800	Enhancers	Colon Smooth Muscle	Colon
4	chr1:221651000-221652200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:221651000-221652600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:221651000-221652800	Enhancers	Hela-S3	cervix
7	chr1:221651200-221651400	Enhancers	Osteobl	bone
8	chr1:221651200-221651800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr1:221651200-221651800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:221651200-221651800	Enhancers	Fetal Lung	lung
11	chr1:221651200-221652000	Enhancers	NHEK	skin
12	chr1:221651200-221652000	Enhancers	NHLF	lung
13	chr1:221651200-221652200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:221651200-221652200	Enhancers	HMEC	breast
15	chr1:221651200-221652200	Enhancers	HSMM	muscle
16	chr1:221651200-221652200	Enhancers	NHDF-Ad	bronchial
17	chr1:221651200-221652400	Enhancers	A549	lung
18	chr1:221651200-221652800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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