Variant report

Variant	rs12226522
Chromosome Location	chr11:47309472-47309473
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	chr11:47304441..47308044-chr11:47308393..47311628,5	K562	blood:
2	chr11:47303872..47306284-chr11:47308245..47309940,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110514	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11039095	1.00[AFR][1000 genomes]
rs11039099	1.00[AFR][1000 genomes]
rs11039103	1.00[AFR][1000 genomes]
rs11039104	1.00[AFR][1000 genomes]
rs11039128	1.00[AFR][1000 genomes]
rs11039169	1.00[AFR][1000 genomes]
rs11039179	1.00[AFR][1000 genomes]
rs11039180	1.00[AFR][1000 genomes]
rs11039214	1.00[AFR][1000 genomes]
rs11039252	1.00[AFR][1000 genomes]
rs12226869	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4647752	1.00[AFR][1000 genomes]
rs61751747	1.00[EUR][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

No data

Chromatin state (count:125 , 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	chr11:47294800-47310200	Weak transcription	Right Atrium	heart
3	chr11:47295000-47323600	Strong transcription	Dnd41	blood
4	chr11:47295200-47319800	Strong transcription	Fetal Muscle Trunk	muscle
5	chr11:47295200-47320200	Strong transcription	Fetal Stomach	stomach
6	chr11:47295200-47321600	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr11:47295200-47323800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr11:47295200-47326800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:47295400-47318200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:47295400-47318800	Strong transcription	Thymus	Thymus
11	chr11:47295400-47319200	Strong transcription	Brain Cingulate Gyrus	brain
12	chr11:47295400-47319600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:47295400-47319600	Strong transcription	Fetal Brain Female	brain
14	chr11:47295400-47320800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:47295400-47321400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr11:47295400-47323800	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr11:47295400-47324800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:47295400-47324800	Strong transcription	Fetal Thymus	thymus
19	chr11:47295400-47340200	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr11:47295400-47341000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:47295400-47352600	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr11:47295600-47319600	Strong transcription	Fetal Muscle Leg	muscle
23	chr11:47295600-47320000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:47295600-47320200	Strong transcription	Fetal Intestine Large	intestine
25	chr11:47295600-47321200	Strong transcription	Brain Germinal Matrix	brain
26	chr11:47295600-47321800	Strong transcription	Primary B cells from peripheral blood	blood
27	chr11:47295600-47323800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr11:47295600-47323800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr11:47295600-47324000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:47295600-47324200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:47295600-47324200	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr11:47295600-47338800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:47295800-47315800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:47295800-47319600	Strong transcription	Fetal Intestine Small	intestine
35	chr11:47295800-47319800	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr11:47295800-47320000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:47295800-47322000	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:47295800-47322400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:47295800-47340600	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr11:47295800-47352800	Strong transcription	Duodenum Mucosa	Duodenum
41	chr11:47296000-47317200	Strong transcription	Pancreas	Pancrea
42	chr11:47296000-47317600	Strong transcription	Gastric	stomach
43	chr11:47296000-47318800	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr11:47296000-47318800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr11:47296000-47319400	Strong transcription	Lung	lung
46	chr11:47296000-47319800	Strong transcription	Brain Anterior Caudate	brain
47	chr11:47296000-47320200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:47296000-47320400	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr11:47296000-47321400	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr11:47296000-47321800	Strong transcription	Colonic Mucosa	Colon

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