Variant report

Variant	rs59400153
Chromosome Location	chr17:63224615-63224616
allele	A/G
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]
rs2869585	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869587	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2904133	1.00[AFR][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]
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[EUR][1000 genomes]
rs6504282	1.00[ASN][1000 genomes]
rs6504283	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6504284	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6504285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6504286	1.00[EUR][1000 genomes]
rs7217524	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7217548	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7218518	0.94[AFR][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[EUR][1000 genomes]
rs73994758	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73994760	1.00[EUR][1000 genomes]
rs73994761	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73994763	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73994764	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73994765	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73994766	1.00[EUR][1000 genomes]
rs73994767	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73994770	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73994771	0.98[AFR][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	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8065444	1.00[EUR][1000 genomes]
rs8066063	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8066072	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8066092	1.00[EUR][1000 genomes]
rs8066191	1.00[EUR][1000 genomes]
rs8068016	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8071641	1.00[EUR][1000 genomes]
rs8073544	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8073716	0.98[AFR][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[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8077956	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8078032	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8078045	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8078298	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8078885	1.00[AFR][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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63221600-63228000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:63222400-63224800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:63222600-63224800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr17:63223400-63225400	Enhancers	Spleen	Spleen
5	chr17:63223600-63225400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr17:63223800-63225200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr17:63223800-63226200	Enhancers	Primary hematopoietic stem cells	blood
8	chr17:63224000-63225200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr17:63224000-63226400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr17:63224200-63225200	Enhancers	Ovary	ovary
11	chr17:63224200-63225400	Enhancers	Placenta	Placenta
12	chr17:63224200-63225800	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr17:63224400-63224800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr17:63224400-63224800	Bivalent Enhancer	Primary T cells from cord blood	blood
15	chr17:63224400-63224800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr17:63224400-63224800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr17:63224400-63224800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr17:63224400-63224800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr17:63224400-63224800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr17:63224400-63224800	Bivalent Enhancer	Adipose Nuclei	Adipose
21	chr17:63224400-63224800	Bivalent Enhancer	Fetal Intestine Large	intestine
22	chr17:63224400-63225000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr17:63224400-63225000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr17:63224400-63225000	Enhancers	Gastric	stomach
25	chr17:63224400-63225000	Enhancers	Right Atrium	heart
26	chr17:63224400-63225200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr17:63224400-63225200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr17:63224400-63225200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
29	chr17:63224400-63225400	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr17:63224400-63225400	Flanking Active TSS	K562	blood
31	chr17:63224400-63225600	Enhancers	Fetal Lung	lung
32	chr17:63224400-63225800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr17:63224400-63225800	Enhancers	Esophagus	oesophagus
34	chr17:63224400-63226200	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr17:63224400-63226200	Enhancers	Duodenum Mucosa	Duodenum
36	chr17:63224400-63226400	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr17:63224400-63226600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr17:63224400-63226800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr17:63224600-63224800	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr17:63224600-63224800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr17:63224600-63224800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
42	chr17:63224600-63224800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
43	chr17:63224600-63225000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr17:63224600-63225000	Enhancers	Primary B cells from cord blood	blood
45	chr17:63224600-63225000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr17:63224600-63225000	Bivalent Enhancer	Fetal Intestine Small	intestine
47	chr17:63224600-63225000	Flanking Active TSS	HUVEC	blood vessel
48	chr17:63224600-63225200	Enhancers	Stomach Mucosa	stomach
49	chr17:63224600-63225200	Flanking Active TSS	Dnd41	blood
50	chr17:63224600-63225400	Bivalent Enhancer	Primary B cells from peripheral blood	blood

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