Variant report

Variant	rs2869585
Chromosome Location	chr17:63223949-63223950
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:63223689..63225402-chr17:63552714..63555075,2	MCF-7	breast:
2	chr17:63223927..63226638-chr17:63237839..63240467,2	K562	blood:
3	chr17:63220426..63221946-chr17:63223585..63225928,2	K562	blood:
4	chr17:63222163..63226262-chr17:63226769..63229619,4	MCF-7	breast:
5	chr17:63223609..63225528-chr17:63228836..63231724,2	K562	blood:

Variant related genes	Relation type
ENSG00000168646	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs16960828	1.00[EUR][1000 genomes]
rs16960834	1.00[EUR][1000 genomes]
rs16961446	1.00[EUR][1000 genomes]
rs16961700	1.00[EUR][1000 genomes]
rs16962050	1.00[EUR][1000 genomes]
rs2109447	1.00[EUR][1000 genomes]
rs2137976	1.00[EUR][1000 genomes]
rs2869587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2904133	1.00[JPT][hapmap];0.90[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs378764	1.00[EUR][1000 genomes]
rs385608	1.00[EUR][1000 genomes]
rs4129027	1.00[EUR][1000 genomes]
rs55944145	1.00[EUR][1000 genomes]
rs55963637	1.00[EUR][1000 genomes]
rs55990302	1.00[EUR][1000 genomes]
rs56081678	1.00[EUR][1000 genomes]
rs56264686	1.00[EUR][1000 genomes]
rs56719687	1.00[EUR][1000 genomes]
rs56818563	1.00[EUR][1000 genomes]
rs57088441	1.00[EUR][1000 genomes]
rs57311249	1.00[EUR][1000 genomes]
rs57411829	1.00[EUR][1000 genomes]
rs57859065	1.00[EUR][1000 genomes]
rs58606080	1.00[EUR][1000 genomes]
rs59024552	1.00[EUR][1000 genomes]
rs59203896	1.00[EUR][1000 genomes]
rs59400153	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60051589	1.00[EUR][1000 genomes]
rs60264965	1.00[EUR][1000 genomes]
rs60320143	1.00[EUR][1000 genomes]
rs60568462	1.00[EUR][1000 genomes]
rs61070431	1.00[EUR][1000 genomes]
rs61534937	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6504282	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6504283	1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6504284	1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6504285	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6504286	1.00[EUR][1000 genomes]
rs7217524	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7217548	0.80[ASW][hapmap];0.90[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7218518	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7220188	1.00[EUR][1000 genomes]
rs7223308	1.00[EUR][1000 genomes]
rs73349122	1.00[EUR][1000 genomes]
rs73994750	1.00[EUR][1000 genomes]
rs73994752	1.00[EUR][1000 genomes]
rs73994754	1.00[EUR][1000 genomes]
rs73994756	1.00[EUR][1000 genomes]
rs73994757	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73994758	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73994760	1.00[EUR][1000 genomes]
rs73994761	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73994763	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73994764	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73994765	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73994766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73994767	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73994770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73994771	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73994772	1.00[EUR][1000 genomes]
rs73994774	1.00[EUR][1000 genomes]
rs73994782	1.00[EUR][1000 genomes]
rs73994788	1.00[EUR][1000 genomes]
rs73994790	1.00[EUR][1000 genomes]
rs73994792	1.00[EUR][1000 genomes]
rs73994793	1.00[EUR][1000 genomes]
rs7503762	1.00[EUR][1000 genomes]
rs8065438	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8065444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8066063	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8066072	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8066092	1.00[EUR][1000 genomes]
rs8066191	1.00[EUR][1000 genomes]
rs8068016	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8071641	1.00[EUR][1000 genomes]
rs8073544	1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8073716	1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8074507	1.00[EUR][1000 genomes]
rs8077510	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8077956	1.00[JPT][hapmap];0.90[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8078032	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8078045	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8078298	1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8078885	0.80[ASW][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs954496	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63220600-63224400	Weak transcription	Esophagus	oesophagus
2	chr17:63220600-63224400	Weak transcription	Right Atrium	heart
3	chr17:63221400-63224200	Weak transcription	Ovary	ovary
4	chr17:63221600-63228000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr17:63222400-63224800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:63222600-63224800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr17:63222800-63224400	Weak transcription	Fetal Lung	lung
8	chr17:63223400-63224600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr17:63223400-63225400	Enhancers	Spleen	Spleen
10	chr17:63223600-63224400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr17:63223600-63224400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr17:63223600-63225400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr17:63223800-63224000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr17:63223800-63224400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr17:63223800-63225200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr17:63223800-63226200	Enhancers	Primary hematopoietic stem cells	blood

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