Variant report

Variant	rs11231123
Chromosome Location	chr11:62277029-62277030
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62274977..62278202-chr11:62299637..62302170,3	MCF-7	breast:
2	chr11:62274768..62277804-chr11:62311507..62316657,6	MCF-7	breast:
3	chr11:62275811..62278092-chr11:62326912..62329535,2	MCF-7	breast:
4	chr11:62270607..62282151-chr11:62305075..62317987,34	MCF-7	breast:
5	chr11:62274660..62277446-chr11:62443371..62446014,2	MCF-7	breast:
6	chr11:62274579..62277992-chr11:62305357..62311305,7	MCF-7	breast:
7	chr11:62274872..62277646-chr11:62281160..62283730,2	K562	blood:
8	chr11:62275860..62278195-chr11:62302595..62304915,2	MCF-7	breast:
9	chr11:62275856..62280048-chr11:62301692..62305667,4	K562	blood:
10	chr11:62274477..62276025-chr11:62276651..62278667,2	MCF-7	breast:
11	chr11:62264606..62266453-chr11:62274794..62277331,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000162191	Chromatin interaction
ENSG00000257058	Chromatin interaction
ENSG00000250659	Chromatin interaction
ENSG00000124942	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11828907	1.00[EUR][1000 genomes]
rs17157352	1.00[EUR][1000 genomes]
rs34320415	1.00[EUR][1000 genomes]
rs3888584	1.00[EUR][1000 genomes]
rs41346047	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41427449	1.00[EUR][1000 genomes]
rs57799986	1.00[EUR][1000 genomes]
rs58505493	1.00[EUR][1000 genomes]
rs58792209	1.00[EUR][1000 genomes]
rs59143369	1.00[EUR][1000 genomes]
rs73483978	1.00[EUR][1000 genomes]
rs73485621	1.00[EUR][1000 genomes]
rs73485634	1.00[EUR][1000 genomes]
rs73500265	1.00[EUR][1000 genomes]
rs73500293	1.00[EUR][1000 genomes]
rs73502105	1.00[EUR][1000 genomes]
rs73502120	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv832180	chr11:62201605-62364828	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
5	nsv897621	chr11:62230309-62290170	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
7	esv1801128	chr11:62276347-62329897	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
8	esv1831183	chr11:62276347-62329897	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62267000-62277400	Enhancers	Fetal Heart	heart
2	chr11:62270800-62281600	Weak transcription	Liver	Liver
3	chr11:62271800-62277200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:62272000-62277800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:62273200-62277400	Enhancers	Placenta	Placenta
6	chr11:62273400-62280600	Weak transcription	Aorta	Aorta
7	chr11:62274200-62281200	Weak transcription	Gastric	stomach
8	chr11:62274600-62280600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:62275200-62277400	Enhancers	Right Atrium	heart
10	chr11:62275600-62277400	Flanking Active TSS	A549	lung
11	chr11:62275600-62279600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:62276000-62277400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:62276200-62277200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:62276200-62277400	Enhancers	Right Ventricle	heart
15	chr11:62276200-62282000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:62276400-62277200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:62276400-62277200	Weak transcription	Psoas Muscle	Psoas
18	chr11:62276400-62277400	Enhancers	Adipose Nuclei	Adipose
19	chr11:62276400-62277600	Enhancers	Hela-S3	cervix
20	chr11:62276400-62279600	Weak transcription	Esophagus	oesophagus
21	chr11:62276400-62279600	Weak transcription	Lung	lung
22	chr11:62276400-62281000	Weak transcription	Primary B cells from cord blood	blood
23	chr11:62276400-62281000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:62276400-62281000	Weak transcription	Ovary	ovary
25	chr11:62276400-62281200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr11:62276400-62281200	Weak transcription	Left Ventricle	heart
27	chr11:62276400-62281200	Weak transcription	Spleen	Spleen
28	chr11:62276400-62281600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:62276400-62282000	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr11:62276400-62282600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:62276400-62290800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr11:62276400-62298600	Weak transcription	Pancreas	Pancrea
33	chr11:62276600-62277200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:62276600-62277200	Enhancers	Brain Hippocampus Middle	brain
35	chr11:62276600-62277400	Enhancers	Colon Smooth Muscle	Colon
36	chr11:62276600-62277400	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr11:62276600-62277400	Enhancers	Rectal Smooth Muscle	rectum
38	chr11:62276600-62277400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr11:62276600-62277600	Weak transcription	Fetal Stomach	stomach
40	chr11:62276600-62277800	Enhancers	HepG2	liver
41	chr11:62276600-62277800	Enhancers	Osteobl	bone
42	chr11:62276600-62278000	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr11:62276600-62278400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr11:62276600-62279600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr11:62276600-62281000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:62276600-62281200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:62276600-62281400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr11:62276600-62281800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr11:62276600-62282000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr11:62276600-62282000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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