Variant report

Variant	rs12293779
Chromosome Location	chr11:73035852-73035853
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73035604..73038970-chr11:73047692..73050704,4	K562	blood:
2	chr11:73034172..73036801-chr11:73094770..73096669,2	MCF-7	breast:
3	chr11:73034868..73037112-chr11:73112469..73114530,2	MCF-7	breast:
4	chr11:73035604..73038970-chr11:73047692..73050704,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1107037	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1107038	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1107039	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235716	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235718	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11826797	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12272360	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12273234	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12279235	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12280876	0.89[AFR][1000 genomes]
rs12284174	0.91[AFR][1000 genomes]
rs12284575	0.87[AFR][1000 genomes]
rs12290082	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12291164	0.81[AFR][1000 genomes]
rs17310347	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938776	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938779	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017066	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3887105	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55664562	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55669228	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55732055	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55885773	1.00[ASN][1000 genomes]
rs55921075	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55980420	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56012762	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56140159	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56184513	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56334857	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56394842	1.00[ASN][1000 genomes]
rs56665358	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56775065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59127043	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61749197	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542448	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542460	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941389	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs874456	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73024400-73037000	Enhancers	Placenta	Placenta
2	chr11:73024800-73037000	Genic enhancers	Fetal Intestine Small	intestine
3	chr11:73025400-73037200	Enhancers	Left Ventricle	heart
4	chr11:73025800-73038400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:73026400-73036800	Enhancers	Fetal Heart	heart
6	chr11:73026600-73039600	Genic enhancers	Fetal Stomach	stomach
7	chr11:73028400-73039000	Enhancers	Rectal Smooth Muscle	rectum
8	chr11:73028600-73037000	Enhancers	Right Ventricle	heart
9	chr11:73030400-73036200	Enhancers	Lung	lung
10	chr11:73030600-73037000	Enhancers	Ovary	ovary
11	chr11:73030800-73036800	Enhancers	Primary hematopoietic stem cells	blood
12	chr11:73030800-73037000	Enhancers	Esophagus	oesophagus
13	chr11:73030800-73039000	Enhancers	Fetal Lung	lung
14	chr11:73030800-73040000	Enhancers	Right Atrium	heart
15	chr11:73031000-73037200	Enhancers	Colonic Mucosa	Colon
16	chr11:73031200-73037000	Enhancers	NHDF-Ad	bronchial
17	chr11:73031400-73036000	Enhancers	NH-A	brain
18	chr11:73031400-73036600	Enhancers	Fetal Muscle Trunk	muscle
19	chr11:73031600-73036600	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr11:73031800-73036000	Enhancers	Brain Anterior Caudate	brain
21	chr11:73031800-73036400	Enhancers	Duodenum Mucosa	Duodenum
22	chr11:73031800-73036600	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr11:73031800-73037000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr11:73031800-73037000	Enhancers	Spleen	Spleen
25	chr11:73031800-73038800	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr11:73031800-73042200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:73032000-73036000	Enhancers	Brain Cingulate Gyrus	brain
28	chr11:73032000-73037400	Enhancers	Brain Hippocampus Middle	brain
29	chr11:73032200-73036600	Enhancers	Fetal Kidney	kidney
30	chr11:73032200-73036800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:73032200-73036800	Enhancers	Stomach Mucosa	stomach
32	chr11:73032400-73038000	Weak transcription	NHEK	skin
33	chr11:73032600-73036000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:73032600-73039000	Enhancers	Brain Substantia Nigra	brain
35	chr11:73033000-73036800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr11:73033200-73036200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:73033200-73036600	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr11:73033200-73045400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:73033200-73045600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr11:73033400-73036600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:73033600-73036400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr11:73033800-73036600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
43	chr11:73033800-73036800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr11:73033800-73040400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:73034000-73036400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr11:73034000-73036400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:73034200-73036400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:73034200-73039400	Genic enhancers	Fetal Muscle Leg	muscle
49	chr11:73034400-73036600	Weak transcription	Brain Angular Gyrus	brain
50	chr11:73034400-73037800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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