Variant report

Variant	rs59567949
Chromosome Location	chr11:47300155-47300156
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	chr11:47296966..47300270-chr11:47303730..47307265,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110514	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1051006	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10769253	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10769254	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10769255	0.94[EUR][1000 genomes]
rs10838685	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10838686	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10838687	0.92[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10838689	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11039144	0.82[AMR][1000 genomes]
rs11039148	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11039155	0.88[EUR][1000 genomes]
rs11039189	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11493249	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11530166	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12222581	0.81[AMR][1000 genomes]
rs12574081	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1449626	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16938581	0.80[AMR][1000 genomes]
rs2242261	0.80[AMR][1000 genomes]
rs2242262	0.80[AMR][1000 genomes]
rs2254240	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2279238	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2290146	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2290148	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2633083	0.80[AMR][1000 genomes]
rs3729802	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3729804	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3729805	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3758670	0.80[EUR][1000 genomes]
rs3781619	0.82[AMR][1000 genomes]
rs3781620	0.80[AMR][1000 genomes]
rs3824866	0.82[AMR][1000 genomes]
rs4647737	0.82[AMR][1000 genomes]
rs4647741	0.80[AMR][1000 genomes]
rs4647754	0.82[AMR][1000 genomes]
rs4752977	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4752978	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4752979	0.88[AMR][1000 genomes]
rs4752983	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58023804	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6485751	0.88[AMR][1000 genomes]
rs7118396	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7120158	0.80[AMR][1000 genomes]
rs7124958	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs753992	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs753993	0.82[AMR][1000 genomes]
rs7928073	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7933246	0.80[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	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs59567949	ACP2	Cis_1M	lymphoblastoid	RTeQTL
rs59567949	DDB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47294600-47355200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr11:47294800-47305800	Weak transcription	Stomach Mucosa	stomach
3	chr11:47294800-47310200	Weak transcription	Right Atrium	heart
4	chr11:47295000-47323600	Strong transcription	Dnd41	blood
5	chr11:47295200-47308800	Strong transcription	Osteobl	bone
6	chr11:47295200-47319800	Strong transcription	Fetal Muscle Trunk	muscle
7	chr11:47295200-47320200	Strong transcription	Fetal Stomach	stomach
8	chr11:47295200-47321600	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr11:47295200-47323800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr11:47295200-47326800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:47295400-47301200	Strong transcription	Fetal Lung	lung
12	chr11:47295400-47301800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:47295400-47303800	Strong transcription	Liver	Liver
14	chr11:47295400-47303800	Strong transcription	HepG2	liver
15	chr11:47295400-47308200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:47295400-47308400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
17	chr11:47295400-47308400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
18	chr11:47295400-47308600	Strong transcription	NHLF	lung
19	chr11:47295400-47318200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:47295400-47318800	Strong transcription	Thymus	Thymus
21	chr11:47295400-47319200	Strong transcription	Brain Cingulate Gyrus	brain
22	chr11:47295400-47319600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:47295400-47319600	Strong transcription	Fetal Brain Female	brain
24	chr11:47295400-47320800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:47295400-47321400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:47295400-47323800	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr11:47295400-47324800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:47295400-47324800	Strong transcription	Fetal Thymus	thymus
29	chr11:47295400-47340200	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr11:47295400-47341000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr11:47295400-47352600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr11:47295600-47319600	Strong transcription	Fetal Muscle Leg	muscle
33	chr11:47295600-47320000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:47295600-47320200	Strong transcription	Fetal Intestine Large	intestine
35	chr11:47295600-47321200	Strong transcription	Brain Germinal Matrix	brain
36	chr11:47295600-47321800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr11:47295600-47323800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr11:47295600-47323800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr11:47295600-47324000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:47295600-47324200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:47295600-47324200	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr11:47295600-47338800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:47295800-47302400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:47295800-47315800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:47295800-47319600	Strong transcription	Fetal Intestine Small	intestine
46	chr11:47295800-47319800	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr11:47295800-47320000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:47295800-47322000	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr11:47295800-47322400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:47295800-47340600	Strong transcription	Primary neutrophils fromperipheralblood	blood

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