Variant report

Variant	rs11039148
Chromosome Location	chr11:47274126-47274127
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47274018..47276189-chr11:47289692..47292205,2	MCF-7	breast:
2	chr11:47273288..47275375-chr11:47288346..47292837,4	K562	blood:
3	chr11:47236362..47238989-chr11:47273774..47276751,3	K562	blood:
4	chr11:47273867..47276931-chr11:47289002..47291937,3	MCF-7	breast:
5	chr11:47265054..47272453-chr11:47272862..47282933,17	MCF-7	breast:
6	chr11:47236362..47238989-chr11:47273774..47276076,2	K562	blood:
7	chr11:47269243..47272486-chr11:47273981..47276768,5	MCF-7	breast:
8	chr11:47273086..47275375-chr11:47290934..47292611,2	K562	blood:
9	chr11:47268932..47273259-chr11:47273972..47277777,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000025434	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000134574	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1051006	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10838685	0.82[EUR][1000 genomes]
rs10838686	0.81[EUR][1000 genomes]
rs10838689	0.80[EUR][1000 genomes]
rs11039144	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11039155	0.87[EUR][1000 genomes]
rs11493249	0.81[EUR][1000 genomes]
rs12574081	0.89[EUR][1000 genomes]
rs1449626	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16938581	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2242261	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2242262	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2279238	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2306353	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2596397	0.86[AMR][1000 genomes]
rs2596398	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2633080	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2633083	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2957873	0.86[AMR][1000 genomes]
rs326224	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3758670	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3781619	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3781620	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3824866	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4647725	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4647726	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4647737	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4647741	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4647754	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4647757	0.92[AMR][1000 genomes]
rs4752972	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4752973	0.95[AMR][1000 genomes]
rs4752977	0.81[EUR][1000 genomes]
rs4752978	0.80[EUR][1000 genomes]
rs58023804	0.81[EUR][1000 genomes]
rs59567949	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7118396	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7120158	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7395496	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7933246	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7947269	0.83[AMR][1000 genomes]
rs830083	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs830084	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][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	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11039148	DDB2	Cis_1M	lymphoblastoid	RTeQTL
rs11039148	ACP2	cis	Thyroid	GTEx
rs11039148	ACP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47271000-47280800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:47271200-47275000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:47271200-47276200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr11:47271200-47276600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:47271400-47274400	Weak transcription	Fetal Intestine Small	intestine
6	chr11:47271400-47274600	Weak transcription	Fetal Stomach	stomach
7	chr11:47271400-47274800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:47271400-47274800	Weak transcription	Primary T cells from cord blood	blood
9	chr11:47271400-47274800	Weak transcription	Hela-S3	cervix
10	chr11:47271400-47275000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:47271400-47275000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr11:47271400-47275000	Weak transcription	Placenta	Placenta
13	chr11:47271400-47275000	Weak transcription	Pancreas	Pancrea
14	chr11:47271400-47275000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr11:47271400-47275000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr11:47271400-47275000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:47271400-47275000	Weak transcription	Small Intestine	intestine
18	chr11:47271400-47275000	Weak transcription	Stomach Mucosa	stomach
19	chr11:47271400-47275000	Weak transcription	HSMMtube	muscle
20	chr11:47271400-47275200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:47271400-47275200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr11:47271400-47275200	Weak transcription	Brain Angular Gyrus	brain
23	chr11:47271400-47275200	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:47271400-47275200	Weak transcription	Fetal Lung	lung
25	chr11:47271400-47275200	Weak transcription	Fetal Muscle Leg	muscle
26	chr11:47271400-47275200	Weak transcription	Fetal Thymus	thymus
27	chr11:47271400-47275200	Weak transcription	Psoas Muscle	Psoas
28	chr11:47271400-47275200	Weak transcription	Right Atrium	heart
29	chr11:47271400-47275200	Weak transcription	Right Ventricle	heart
30	chr11:47271400-47275200	Weak transcription	A549	lung
31	chr11:47271400-47275200	Weak transcription	HUVEC	blood vessel
32	chr11:47271400-47275200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr11:47271400-47275400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:47271400-47275400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:47271400-47275400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr11:47271400-47275400	Weak transcription	Brain Anterior Caudate	brain
37	chr11:47271400-47275400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr11:47271400-47275400	Weak transcription	Brain Substantia Nigra	brain
39	chr11:47271400-47275400	Weak transcription	Fetal Heart	heart
40	chr11:47271400-47275400	Weak transcription	Fetal Kidney	kidney
41	chr11:47271400-47275400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr11:47271400-47275400	Weak transcription	NHLF	lung
43	chr11:47271400-47275600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:47271400-47275600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr11:47271400-47275600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:47271400-47275600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr11:47271400-47275600	Weak transcription	HSMM	muscle
48	chr11:47271400-47275600	Weak transcription	NH-A	brain
49	chr11:47271400-47275600	Weak transcription	NHDF-Ad	bronchial
50	chr11:47271400-47275600	Weak transcription	Osteobl	bone

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