Variant report

Variant	rs2017066
Chromosome Location	chr11:73026678-73026679
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73024782..73027312-chr11:73031745..73033337,2	K562	blood:
2	chr11:73004772..73007681-chr11:73025999..73028203,2	MCF-7	breast:
3	chr11:73023858..73027999-chr11:73087402..73090750,4	MCF-7	breast:
4	chr11:73022279..73024730-chr11:73026577..73028297,2	K562	blood:
5	chr11:73025076..73027780-chr11:73032690..73035517,2	K562	blood:
6	chr11:73022132..73024730-chr11:73025470..73028297,3	K562	blood:
7	chr11:73017816..73020717-chr11:73023250..73027680,5	K562	blood:
8	chr11:73011766..73013330-chr11:73026654..73028926,2	MCF-7	breast:
9	chr11:73025640..73027752-chr11:73039353..73043399,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000054967	Chromatin interaction
ENSG00000257038	Chromatin interaction
ENSG00000110237	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1107037	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1107038	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1107039	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235716	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235718	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11826797	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12272360	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12273234	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12279235	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12290082	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12291164	0.86[AFR][1000 genomes]
rs12293779	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17310347	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938779	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3887105	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55664562	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55669228	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55732055	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55851019	0.84[AFR][1000 genomes]
rs55885773	1.00[ASN][1000 genomes]
rs55921075	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55980420	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56012762	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56140159	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56184513	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56334857	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56394842	1.00[ASN][1000 genomes]
rs56665358	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56775065	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58053874	0.84[AFR][1000 genomes]
rs59127043	0.97[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61749197	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542448	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542460	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941389	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs874456	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73020800-73028000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:73021000-73027200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr11:73022200-73026800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:73022600-73026800	Flanking Active TSS	Colon Smooth Muscle	Colon
5	chr11:73023000-73027000	Flanking Active TSS	Osteobl	bone
6	chr11:73023000-73029200	Enhancers	Placenta Amnion	Placenta Amnion
7	chr11:73023000-73029600	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr11:73023400-73026800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:73024000-73029400	Enhancers	Brain Angular Gyrus	brain
10	chr11:73024000-73030000	Enhancers	Lung	lung
11	chr11:73024400-73027400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:73024400-73029200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:73024400-73029600	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr11:73024400-73037000	Enhancers	Placenta	Placenta
15	chr11:73024600-73026800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:73024600-73026800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:73024600-73027000	Flanking Active TSS	Right Ventricle	heart
18	chr11:73024600-73029200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:73024800-73027200	Enhancers	Esophagus	oesophagus
20	chr11:73024800-73028400	Enhancers	Spleen	Spleen
21	chr11:73024800-73037000	Genic enhancers	Fetal Intestine Small	intestine
22	chr11:73025000-73026800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:73025000-73029400	Enhancers	Fetal Lung	lung
24	chr11:73025000-73029600	Enhancers	Fetal Brain Male	brain
25	chr11:73025000-73029800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr11:73025200-73026800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:73025200-73027200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:73025200-73029800	Enhancers	Primary hematopoietic stem cells	blood
29	chr11:73025200-73030000	Enhancers	Right Atrium	heart
30	chr11:73025200-73031200	Enhancers	Brain Anterior Caudate	brain
31	chr11:73025400-73029000	Enhancers	Ovary	ovary
32	chr11:73025400-73029600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr11:73025400-73037200	Enhancers	Left Ventricle	heart
34	chr11:73025600-73027400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:73025600-73027600	Enhancers	Fetal Brain Female	brain
36	chr11:73025600-73027800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:73025600-73027800	Enhancers	K562	blood
38	chr11:73025600-73029400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:73025600-73031200	Genic enhancers	Fetal Intestine Large	intestine
40	chr11:73025600-73033000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:73025600-73033400	Weak transcription	Liver	Liver
42	chr11:73025800-73026800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr11:73025800-73027800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:73025800-73027800	Weak transcription	Gastric	stomach
45	chr11:73025800-73031400	Enhancers	Brain Substantia Nigra	brain
46	chr11:73025800-73038400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:73026000-73027600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:73026000-73027600	Weak transcription	Pancreas	Pancrea
49	chr11:73026000-73028000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr11:73026000-73028200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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