Variant report

Variant	rs17022715
Chromosome Location	chr1:119443329-119443330
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1416142	0.87[AMR][1000 genomes]
rs17022688	0.87[AMR][1000 genomes]
rs17022701	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17022710	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55907232	0.87[AMR][1000 genomes]
rs6655966	0.87[AMR][1000 genomes]
rs73007534	0.87[AMR][1000 genomes]
rs7532756	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3494191	chr1:118772550-119719548	Enhancers Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv3494192	chr1:118772550-119719548	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv997707	chr1:119199568-119595949	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv831181	chr1:119340175-119529347	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119425200-119445000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr1:119428200-119449800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:119429400-119490200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:119431600-119445200	Weak transcription	Aorta	Aorta
5	chr1:119433000-119449400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:119436600-119444600	Strong transcription	Fetal Muscle Trunk	muscle
7	chr1:119437800-119461200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:119441800-119443800	Weak transcription	Psoas Muscle	Psoas
9	chr1:119441800-119444600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr1:119441800-119455600	Strong transcription	Fetal Muscle Leg	muscle
11	chr1:119442000-119449800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:119442200-119443400	Strong transcription	Liver	Liver
13	chr1:119442200-119445000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:119442200-119452600	Weak transcription	HSMM	muscle
15	chr1:119442400-119444800	Weak transcription	Osteobl	bone
16	chr1:119443000-119444000	Enhancers	HSMMtube	muscle
17	chr1:119443000-119444200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr1:119443000-119444400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:119443000-119448000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:119443200-119444400	Weak transcription	NHDF-Ad	bronchial
21	chr1:119443200-119447600	Weak transcription	Adipose Nuclei	Adipose

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