Variant report

Variant	rs12225433
Chromosome Location	chr11:47778529-47778530
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47777399..47779462-chr11:47781256..47782859,2	MCF-7	breast:
2	chr11:47776323..47779560-chr11:47786709..47790072,6	MCF-7	breast:
3	chr11:47777730..47779559-chr11:47781286..47784201,3	K562	blood:
4	chr11:47746018..47748153-chr11:47776566..47779295,2	MCF-7	breast:
5	chr11:47777903..47779990-chr11:47786996..47788801,2	K562	blood:
6	chr11:47660743..47662346-chr11:47776631..47779336,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109920	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11039306	1.00[AFR][1000 genomes]
rs11039339	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11039413	1.00[AFR][1000 genomes]
rs11039462	1.00[AFR][1000 genomes]
rs11039468	1.00[AFR][1000 genomes]
rs12221935	1.00[AFR][1000 genomes]
rs2046378	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs2904128	1.00[AFR][1000 genomes]
rs60133324	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7109443	1.00[EUR][1000 genomes]
rs7109918	1.00[AFR][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	nsv469858	chr11:47647515-47837172	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv832143	chr11:47700808-47883540	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47737000-47786200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:47737200-47779800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:47737600-47779200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:47737800-47782800	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr11:47737800-47785800	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr11:47737800-47786000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:47737800-47786200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:47737800-47786200	Strong transcription	Muscle Satellite Cultured Cells	--
9	chr11:47737800-47786400	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr11:47737800-47786400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr11:47737800-47786400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:47737800-47786400	Strong transcription	Fetal Thymus	thymus
13	chr11:47737800-47786800	Strong transcription	Placenta	Placenta
14	chr11:47738000-47786200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:47738000-47786400	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr11:47738000-47786400	Strong transcription	Primary B cells from peripheral blood	blood
17	chr11:47738000-47786800	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:47738200-47779000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:47738200-47786400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:47738400-47786200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:47738600-47785800	Strong transcription	Dnd41	blood
22	chr11:47746200-47786000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:47746400-47786200	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr11:47747400-47786200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:47747600-47786400	Strong transcription	Fetal Intestine Large	intestine
26	chr11:47747800-47786200	Strong transcription	A549	lung
27	chr11:47748000-47786000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:47748600-47786200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:47748600-47786200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:47748800-47786200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr11:47753400-47786400	Strong transcription	Liver	Liver
32	chr11:47753600-47786400	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr11:47759200-47786200	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr11:47759400-47785400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:47760600-47783200	Strong transcription	Fetal Lung	lung
36	chr11:47760800-47779200	Strong transcription	Brain Germinal Matrix	brain
37	chr11:47764800-47780200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:47764800-47786200	Strong transcription	HSMM	muscle
39	chr11:47765200-47780400	Strong transcription	NHDF-Ad	bronchial
40	chr11:47766600-47779600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr11:47768000-47786600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr11:47769000-47779600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:47769000-47787600	Weak transcription	Stomach Mucosa	stomach
44	chr11:47769600-47786000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:47769800-47779600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:47773600-47779600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:47775400-47779200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:47775600-47778600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr11:47775600-47779200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr11:47776000-47779400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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