Variant report

Variant	rs17022673
Chromosome Location	chr1:119427259-119427260
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:119425132..119428017-chr1:119428456..119431229,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12065477	1.00[AMR][1000 genomes]
rs59734934	1.00[AMR][1000 genomes]
rs6665851	1.00[AFR][1000 genomes]
rs7551265	1.00[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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119414800-119429400	Weak transcription	Psoas Muscle	Psoas
2	chr1:119419600-119429200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:119424200-119429000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:119424400-119434400	Strong transcription	Fetal Muscle Leg	muscle
5	chr1:119424600-119433600	Strong transcription	Osteobl	bone
6	chr1:119424600-119434200	Strong transcription	Fetal Muscle Trunk	muscle
7	chr1:119424800-119430200	Strong transcription	Liver	Liver
8	chr1:119425000-119433000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:119425200-119445000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:119425400-119428400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:119425400-119433200	Strong transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:119425400-119435200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:119425800-119430000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:119425800-119430200	Strong transcription	HSMMtube	muscle
15	chr1:119425800-119433000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:119426000-119428000	Strong transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:119426000-119428200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:119426200-119428000	Strong transcription	NHDF-Ad	bronchial
19	chr1:119426600-119431400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:119426800-119428200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:119426800-119428600	Strong transcription	HSMM	muscle
22	chr1:119427000-119433200	Strong transcription	Adipose Nuclei	Adipose

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