Variant report

Variant	rs12280732
Chromosome Location	chr11:3984145-3984146
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:3979407..3982038-chr11:3982601..3985547,3	K562	blood:
2	chr11:3973583..3975273-chr11:3982575..3984995,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12291668	1.00[AMR][1000 genomes]
rs34345859	1.00[AMR][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	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3961200-4002000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:3970800-3988600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr11:3971400-3988400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr11:3972800-3988800	Weak transcription	Fetal Muscle Leg	muscle
5	chr11:3973000-3988600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:3973200-3984800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:3973200-3993200	Weak transcription	Colon Smooth Muscle	Colon
8	chr11:3973200-4008400	Weak transcription	Fetal Lung	lung
9	chr11:3973600-3993800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr11:3974800-3988200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr11:3974800-3988800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr11:3975000-4006000	Weak transcription	Right Ventricle	heart
13	chr11:3975600-3988600	Weak transcription	Dnd41	blood
14	chr11:3975600-3988800	Weak transcription	Aorta	Aorta
15	chr11:3975800-3984800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:3975800-3988800	Weak transcription	Esophagus	oesophagus
17	chr11:3977400-3985400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr11:3977400-3988600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr11:3980600-3988800	Weak transcription	GM12878-XiMat	blood
20	chr11:3980600-3994200	Weak transcription	Fetal Stomach	stomach
21	chr11:3981000-3988800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr11:3981200-3984800	Weak transcription	K562	blood
23	chr11:3981200-3990400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:3981400-3985200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:3981600-3988800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:3981600-3993000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr11:3981800-3989800	Weak transcription	Osteobl	bone
28	chr11:3981800-3990800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:3982000-3984400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr11:3982000-3993200	Weak transcription	NHEK	skin
31	chr11:3982200-3988800	Weak transcription	Spleen	Spleen
32	chr11:3982400-3994200	Weak transcription	Brain Anterior Caudate	brain
33	chr11:3982600-3984400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr11:3982600-3984600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr11:3982600-3984800	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr11:3982600-3985000	Weak transcription	Psoas Muscle	Psoas
37	chr11:3982600-3985200	Weak transcription	HMEC	breast
38	chr11:3982600-3987200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr11:3982600-3988800	Weak transcription	Primary B cells from cord blood	blood
40	chr11:3982600-3988800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:3982600-3992800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:3982600-3994000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:3982600-3994200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:3982600-4004400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:3982600-4005600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr11:3982600-4006000	Weak transcription	Left Ventricle	heart
47	chr11:3982800-3984600	Weak transcription	Primary T cells from cord blood	blood
48	chr11:3983200-3985000	Enhancers	NHDF-Ad	bronchial
49	chr11:3983200-3986000	Enhancers	HepG2	liver
50	chr11:3983200-3988800	Enhancers	Primary T helper cells PMA-I stimulated	--

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