Variant report

Variant	rs55669228
Chromosome Location	chr11:73043236-73043237
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73032442..73034881-chr11:73042060..73045731,3	K562	blood:
2	chr11:73042602..73045462-chr11:73088644..73091188,2	K562	blood:
3	chr11:73025640..73027752-chr11:73039353..73043399,3	K562	blood:
4	chr11:73038301..73040651-chr11:73040971..73045246,4	K562	blood:
5	chr11:72992008..72994369-chr11:73042375..73045074,2	K562	blood:
6	chr11:73041986..73043948-chr11:73085823..73088729,2	MCF-7	breast:
7	chr11:73041736..73046932-chr11:73048658..73054905,8	K562	blood:

Variant related genes	Relation type
ENSG00000110237	Chromatin interaction
ENSG00000054967	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1107037	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1107038	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1107039	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235716	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235718	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11826797	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12272360	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12273234	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12279235	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12290082	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293779	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17310347	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938776	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938779	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017066	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3887105	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55664562	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55732055	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55885773	1.00[ASN][1000 genomes]
rs55921075	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55980420	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56012762	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56140159	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56184513	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56334857	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56394842	1.00[ASN][1000 genomes]
rs56665358	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56775065	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59127043	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61749197	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542448	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542460	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941389	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs874456	0.90[EUR][1000 genomes];1.00[ASN][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	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv520665	chr11:72999221-73061856	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv825993	chr11:73029209-73091929	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73033200-73045400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr11:73033200-73045600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr11:73035200-73045800	Weak transcription	Fetal Brain Male	brain
4	chr11:73036600-73045000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr11:73036800-73043600	Weak transcription	Stomach Mucosa	stomach
6	chr11:73037400-73046200	Weak transcription	Brain Angular Gyrus	brain
7	chr11:73038000-73047000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:73038600-73047000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:73038800-73047000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:73039000-73045000	Weak transcription	HMEC	breast
11	chr11:73039200-73044800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:73039600-73046400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:73040000-73045000	Weak transcription	GM12878-XiMat	blood
14	chr11:73040400-73046800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:73040600-73047000	Enhancers	NHDF-Ad	bronchial
16	chr11:73040800-73043800	Enhancers	Brain Hippocampus Middle	brain
17	chr11:73040800-73045000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:73040800-73045200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:73040800-73045200	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr11:73040800-73045400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:73040800-73045400	Enhancers	NH-A	brain
22	chr11:73040800-73045800	Enhancers	Rectal Smooth Muscle	rectum
23	chr11:73040800-73046000	Enhancers	Fetal Lung	lung
24	chr11:73040800-73047000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr11:73040800-73047000	Enhancers	Fetal Kidney	kidney
26	chr11:73040800-73047200	Enhancers	Fetal Heart	heart
27	chr11:73041000-73045200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:73041000-73045800	Enhancers	Adipose Nuclei	Adipose
29	chr11:73041000-73046600	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr11:73041000-73047000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr11:73041000-73047000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr11:73041400-73044000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr11:73041400-73044400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:73041400-73045800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:73041400-73047000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:73041400-73047000	Enhancers	Fetal Muscle Leg	muscle
37	chr11:73041400-73047000	Enhancers	Placenta	Placenta
38	chr11:73041600-73043400	Enhancers	Brain Anterior Caudate	brain
39	chr11:73041600-73043400	Enhancers	Right Atrium	heart
40	chr11:73041600-73044000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr11:73041600-73044200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:73041600-73044200	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr11:73041600-73044400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:73041600-73045000	Enhancers	HSMM	muscle
45	chr11:73041600-73045600	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr11:73041600-73046200	Enhancers	Ovary	ovary
47	chr11:73041600-73046400	Enhancers	Left Ventricle	heart
48	chr11:73041600-73046600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:73041600-73046800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:73041600-73047000	Enhancers	Right Ventricle	heart

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