Variant report

Variant	rs1473921
Chromosome Location	chr17:63226374-63226375
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	chr17:63223927..63226638-chr17:63237839..63240467,2	K562	blood:
2	chr17:63128086..63129836-chr17:63224877..63226699,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1004533	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1122078	0.83[ASN][1000 genomes]
rs1122079	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12450751	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1473919	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1554050	0.97[ASN][1000 genomes]
rs16961258	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1877823	0.99[ASN][1000 genomes]
rs2056050	0.82[AMR][1000 genomes]
rs2292592	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2292593	0.80[JPT][hapmap]
rs2869577	0.84[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4790953	0.98[ASN][1000 genomes]
rs4790955	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4790956	0.84[JPT][hapmap];0.84[EUR][1000 genomes]
rs4791214	0.90[ASN][1000 genomes]
rs4791215	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57672979	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57941427	0.84[ASN][1000 genomes]
rs60116986	1.00[EUR][1000 genomes]
rs61524757	1.00[EUR][1000 genomes]
rs6504287	0.81[ASN][1000 genomes]
rs7220751	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7221174	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73330404	1.00[EUR][1000 genomes]
rs8066949	0.91[ASN][1000 genomes]
rs8066968	0.91[ASN][1000 genomes]
rs8067258	0.89[ASN][1000 genomes]
rs8072505	0.86[ASN][1000 genomes]
rs8072603	0.84[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs8075414	1.00[YRI][hapmap]
rs8078293	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs8078401	1.00[EUR][1000 genomes]
rs8078678	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8081457	0.97[ASN][1000 genomes]
rs9892860	0.84[EUR][1000 genomes]
rs9898101	0.84[EUR][1000 genomes]
rs9904247	0.85[ASN][1000 genomes]
rs9916445	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9916525	0.80[ASN][1000 genomes]
rs9916766	0.84[CHD][hapmap];1.00[GIH][hapmap];0.80[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];1.00[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:31 , 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	chr17:63224000-63226400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr17:63224400-63226400	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr17:63224400-63226600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr17:63224400-63226800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr17:63224600-63226800	Enhancers	Primary T cells fromperipheralblood	blood
7	chr17:63225200-63226400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr17:63225200-63226600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr17:63225200-63226600	Enhancers	Dnd41	blood
10	chr17:63225200-63227600	Weak transcription	Stomach Mucosa	stomach
11	chr17:63225200-63227800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr17:63225200-63228200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr17:63225400-63231600	Weak transcription	Osteobl	bone
14	chr17:63225600-63226400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr17:63225600-63227400	Weak transcription	HSMM	muscle
16	chr17:63225600-63227400	Weak transcription	NH-A	brain
17	chr17:63225600-63227800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr17:63225600-63227800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr17:63225600-63228000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr17:63225800-63226400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr17:63225800-63226600	Enhancers	GM12878-XiMat	blood
22	chr17:63225800-63227600	Weak transcription	HUVEC	blood vessel
23	chr17:63225800-63227600	Weak transcription	NHDF-Ad	bronchial
24	chr17:63225800-63227800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr17:63225800-63227800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr17:63226000-63226400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr17:63226000-63227800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr17:63226000-63228000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr17:63226200-63226400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr17:63226200-63226600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
31	chr17:63226200-63227800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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