Variant report

Variant	rs1473919
Chromosome Location	chr17:63226477-63226478
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:63223927..63226638-chr17:63237839..63240467,2	K562	blood:
2	chr17:63128086..63129836-chr17:63224877..63226699,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1004533	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1122079	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12450751	0.87[EUR][1000 genomes]
rs1473921	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1554050	0.87[ASN][1000 genomes]
rs16961258	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1877823	0.89[ASN][1000 genomes]
rs2292592	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2869577	0.87[EUR][1000 genomes]
rs4790953	0.88[ASN][1000 genomes]
rs4790955	0.94[EUR][1000 genomes]
rs4791214	0.83[ASN][1000 genomes]
rs4791215	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57672979	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60116986	0.94[EUR][1000 genomes]
rs61524757	0.94[EUR][1000 genomes]
rs7220751	0.86[ASN][1000 genomes]
rs7221174	0.94[EUR][1000 genomes]
rs73330404	0.94[EUR][1000 genomes]
rs8066949	0.81[ASN][1000 genomes]
rs8066968	0.81[ASN][1000 genomes]
rs8078293	0.81[ASN][1000 genomes]
rs8078401	0.94[EUR][1000 genomes]
rs8078678	0.94[EUR][1000 genomes]
rs8081457	0.90[ASN][1000 genomes]
rs9916445	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9916766	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv482610	chr17:63214370-63372334	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63221600-63228000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:63224400-63226600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr17:63224400-63226800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr17:63224600-63226800	Enhancers	Primary T cells fromperipheralblood	blood
5	chr17:63225200-63226600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr17:63225200-63226600	Enhancers	Dnd41	blood
7	chr17:63225200-63227600	Weak transcription	Stomach Mucosa	stomach
8	chr17:63225200-63227800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr17:63225200-63228200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr17:63225400-63231600	Weak transcription	Osteobl	bone
11	chr17:63225600-63227400	Weak transcription	HSMM	muscle
12	chr17:63225600-63227400	Weak transcription	NH-A	brain
13	chr17:63225600-63227800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr17:63225600-63227800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr17:63225600-63228000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:63225800-63226600	Enhancers	GM12878-XiMat	blood
17	chr17:63225800-63227600	Weak transcription	HUVEC	blood vessel
18	chr17:63225800-63227600	Weak transcription	NHDF-Ad	bronchial
19	chr17:63225800-63227800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr17:63225800-63227800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr17:63226000-63227800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr17:63226000-63228000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr17:63226200-63226600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
24	chr17:63226200-63227800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr17:63226400-63227800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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