Variant report

Variant	rs73490854
Chromosome Location	chr11:33586505-33586506
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12278240	1.00[EUR][1000 genomes]
rs16924391	1.00[EUR][1000 genomes]
rs16924435	1.00[EUR][1000 genomes]
rs16924441	1.00[EUR][1000 genomes]
rs16924442	1.00[EUR][1000 genomes]
rs57867058	1.00[AMR][1000 genomes]
rs58412081	1.00[AMR][1000 genomes]
rs58451441	1.00[AMR][1000 genomes]
rs58698848	1.00[EUR][1000 genomes]
rs59044984	1.00[EUR][1000 genomes]
rs60213132	1.00[EUR][1000 genomes]
rs61217095	1.00[AMR][1000 genomes]
rs61576899	1.00[AMR][1000 genomes]
rs7107818	1.00[EUR][1000 genomes]
rs7118012	1.00[EUR][1000 genomes]
rs73482997	1.00[AMR][1000 genomes]
rs73484914	1.00[AMR][1000 genomes]
rs73487004	1.00[EUR][1000 genomes]
rs73487007	1.00[EUR][1000 genomes]
rs73487009	1.00[EUR][1000 genomes]
rs73487019	1.00[EUR][1000 genomes]
rs73487021	1.00[EUR][1000 genomes]
rs73488979	1.00[EUR][1000 genomes]
rs73488985	1.00[EUR][1000 genomes]
rs73488989	1.00[EUR][1000 genomes]
rs73490845	1.00[EUR][1000 genomes]
rs73490855	1.00[EUR][1000 genomes]
rs73490869	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73491051	1.00[AMR][1000 genomes]
rs73492932	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73493311	1.00[EUR][1000 genomes]
rs7936080	1.00[EUR][1000 genomes]
rs7939302	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762904	chr11:32969258-33586535	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv533840	chr11:33008192-33595324	Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv1044478	chr11:33008435-33656273	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv1050944	chr11:33043155-33656273	Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv540993	chr11:33043155-33656273	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv529212	chr11:33053073-33641691	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	nsv869418	chr11:33053073-33662479	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv521130	chr11:33068389-33602913	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
9	nsv1041680	chr11:33249367-33637249	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv540997	chr11:33249367-33637249	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv832112	chr11:33469782-33683052	Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33555200-33617600	Weak transcription	Fetal Brain Male	brain
2	chr11:33568200-33606600	Weak transcription	HUVEC	blood vessel
3	chr11:33569800-33605000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:33575400-33589000	Weak transcription	Brain Germinal Matrix	brain
5	chr11:33578800-33599600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:33579400-33588400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:33579400-33594400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:33579400-33605000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:33579600-33586800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:33579600-33594400	Weak transcription	HSMMtube	muscle
11	chr11:33579600-33605600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr11:33579600-33607000	Weak transcription	Osteobl	bone
13	chr11:33580000-33588600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:33580000-33594200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:33580000-33597600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:33580000-33598400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:33580200-33596400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:33580600-33587000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:33581400-33588600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:33581600-33588000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:33582200-33598200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:33582600-33590000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:33582800-33588000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:33583600-33587000	Strong transcription	Fetal Brain Female	brain
25	chr11:33584200-33588000	Weak transcription	NH-A	brain
26	chr11:33585000-33587000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr11:33585000-33587200	Enhancers	Brain Anterior Caudate	brain
28	chr11:33585000-33587200	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr11:33585000-33587200	Enhancers	Brain Substantia Nigra	brain
30	chr11:33585200-33587000	Enhancers	Brain Angular Gyrus	brain
31	chr11:33585200-33587000	Enhancers	Brain Cingulate Gyrus	brain
32	chr11:33585200-33587000	Enhancers	Brain Hippocampus Middle	brain
33	chr11:33585600-33587000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:33585600-33588600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:33585800-33586600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:33585800-33586600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr11:33586400-33587000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr11:33586400-33587000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:33586400-33588400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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