Variant report

Variant	rs58460917
Chromosome Location	chr11:73044089-73044090
allele	C/G
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	chr11:73038301..73040651-chr11:73040971..73045246,4	K562	blood:
4	chr11:72992008..72994369-chr11:73042375..73045074,2	K562	blood:
5	chr11:73020988..73023287-chr11:73043427..73045188,2	K562	blood:
6	chr11:73033372..73035605-chr11:73043238..73045918,2	K562	blood:
7	chr11:73041736..73046932-chr11:73048658..73054905,8	K562	blood:

Variant related genes	Relation type
ENSG00000110237	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12280876	1.00[EUR][1000 genomes]
rs12284174	1.00[EUR][1000 genomes]
rs12291164	1.00[EUR][1000 genomes]
rs28719552	1.00[EUR][1000 genomes]
rs3933402	1.00[EUR][1000 genomes]
rs55851019	1.00[EUR][1000 genomes]
rs58053874	1.00[EUR][1000 genomes]
rs58965711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58995758	1.00[EUR][1000 genomes]
rs59268601	1.00[EUR][1000 genomes]
rs59271755	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59804106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60206663	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60610185	1.00[EUR][1000 genomes]
rs60779105	1.00[EUR][1000 genomes]
rs61086238	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61122124	1.00[EUR][1000 genomes]
rs61400770	1.00[EUR][1000 genomes]
rs61654355	1.00[EUR][1000 genomes]
rs7111021	1.00[EUR][1000 genomes]
rs7119632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7119975	1.00[EUR][1000 genomes]
rs7122979	1.00[EUR][1000 genomes]
rs7123114	1.00[EUR][1000 genomes]
rs7123218	1.00[EUR][1000 genomes]
rs7127143	1.00[EUR][1000 genomes]
rs7127412	1.00[EUR][1000 genomes]
rs947836	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	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:100 , 50 per page) page: 1 2

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	chr11:73037400-73046200	Weak transcription	Brain Angular Gyrus	brain
6	chr11:73038000-73047000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:73038600-73047000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:73038800-73047000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:73039000-73045000	Weak transcription	HMEC	breast
10	chr11:73039200-73044800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:73039600-73046400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:73040000-73045000	Weak transcription	GM12878-XiMat	blood
13	chr11:73040400-73046800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:73040600-73047000	Enhancers	NHDF-Ad	bronchial
15	chr11:73040800-73045000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:73040800-73045200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:73040800-73045200	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr11:73040800-73045400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:73040800-73045400	Enhancers	NH-A	brain
20	chr11:73040800-73045800	Enhancers	Rectal Smooth Muscle	rectum
21	chr11:73040800-73046000	Enhancers	Fetal Lung	lung
22	chr11:73040800-73047000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr11:73040800-73047000	Enhancers	Fetal Kidney	kidney
24	chr11:73040800-73047200	Enhancers	Fetal Heart	heart
25	chr11:73041000-73045200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:73041000-73045800	Enhancers	Adipose Nuclei	Adipose
27	chr11:73041000-73046600	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr11:73041000-73047000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr11:73041000-73047000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr11:73041400-73044400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:73041400-73045800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:73041400-73047000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:73041400-73047000	Enhancers	Fetal Muscle Leg	muscle
34	chr11:73041400-73047000	Enhancers	Placenta	Placenta
35	chr11:73041600-73044200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:73041600-73044200	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr11:73041600-73044400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:73041600-73045000	Enhancers	HSMM	muscle
39	chr11:73041600-73045600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr11:73041600-73046200	Enhancers	Ovary	ovary
41	chr11:73041600-73046400	Enhancers	Left Ventricle	heart
42	chr11:73041600-73046600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:73041600-73046800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:73041600-73047000	Enhancers	Right Ventricle	heart
45	chr11:73041600-73047000	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr11:73041800-73044600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
47	chr11:73041800-73045800	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr11:73041800-73046600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:73042000-73045200	Enhancers	A549	lung
50	chr11:73042000-73047000	Genic enhancers	Fetal Stomach	stomach

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