Variant report

Variant	rs1043467
Chromosome Location	chr11:120358145-120358146
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:120348981..120351223-chr11:120357260..120358786,2	K562	blood:
2	chr11:120351611..120354490-chr11:120357037..120360883,5	K562	blood:
3	chr11:120195286..120197931-chr11:120356675..120359114,2	K562	blood:

Variant related genes	Relation type
ENSG00000181264	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11217836	1.00[EUR][1000 genomes]
rs11217943	1.00[EUR][1000 genomes]
rs12270828	1.00[EUR][1000 genomes]
rs12271692	1.00[EUR][1000 genomes]
rs12273297	1.00[EUR][1000 genomes]
rs12279547	1.00[EUR][1000 genomes]
rs12279552	1.00[EUR][1000 genomes]
rs12286406	1.00[EUR][1000 genomes]
rs12287078	1.00[EUR][1000 genomes]
rs12288721	1.00[EUR][1000 genomes]
rs17124122	1.00[EUR][1000 genomes]
rs34217050	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35985298	1.00[EUR][1000 genomes]
rs59801719	1.00[EUR][1000 genomes]
rs59982630	1.00[EUR][1000 genomes]
rs60676831	1.00[EUR][1000 genomes]
rs73584172	1.00[EUR][1000 genomes]
rs73584179	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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120304800-120359400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr11:120308000-120359000	Strong transcription	Placenta	Placenta
3	chr11:120314200-120362200	Strong transcription	Liver	Liver
4	chr11:120316400-120382000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:120329000-120358800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:120335200-120359600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:120336200-120358600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr11:120339800-120362200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:120342200-120358400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:120342800-120358800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:120344000-120359200	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr11:120344200-120358600	Strong transcription	Brain Inferior Temporal Lobe	brain
13	chr11:120345200-120358400	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr11:120346400-120359800	Weak transcription	Primary B cells from cord blood	blood
15	chr11:120350400-120358800	Strong transcription	Fetal Muscle Trunk	muscle
16	chr11:120352400-120358600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:120353000-120359800	Weak transcription	Small Intestine	intestine
18	chr11:120353800-120360200	Weak transcription	HMEC	breast
19	chr11:120354400-120358800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:120354600-120358600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:120354600-120358600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:120354600-120358600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:120354800-120358200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:120354800-120358400	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr11:120354800-120358800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:120355000-120358800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:120355000-120359400	Strong transcription	HSMM	muscle
28	chr11:120355200-120358200	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr11:120355200-120358600	Strong transcription	NHDF-Ad	bronchial
30	chr11:120355200-120359200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:120355200-120359800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:120355400-120358400	Strong transcription	Fetal Lung	lung
33	chr11:120355400-120358600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:120355400-120358600	Strong transcription	NHLF	lung
35	chr11:120356000-120358200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr11:120356000-120358800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:120356000-120365000	Weak transcription	Fetal Heart	heart
38	chr11:120356200-120358600	Weak transcription	Hela-S3	cervix
39	chr11:120356200-120370800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr11:120356400-120358200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr11:120356400-120358200	Weak transcription	A549	lung
42	chr11:120356400-120359000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:120356400-120360400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr11:120356400-120363400	Weak transcription	NHEK	skin
45	chr11:120356400-120365200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr11:120356600-120358200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:120356600-120358400	Weak transcription	Primary B cells from peripheral blood	blood
48	chr11:120356600-120358400	Weak transcription	Fetal Brain Male	brain
49	chr11:120356600-120359400	Weak transcription	HepG2	liver
50	chr11:120356600-120359600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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