Variant report

Variant	rs2513216
Chromosome Location	chr11:86750947-86750948
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86736816..86738762-chr11:86750724..86753457,2	K562	blood:
2	chr11:86741218..86743533-chr11:86749277..86751879,2	MCF-7	breast:
3	chr11:86749278..86752197-chr11:86764776..86767404,2	K562	blood:
4	chr11:86658501..86661245-chr11:86750837..86752641,2	K562	blood:
5	chr11:86665343..86667808-chr11:86749695..86751582,2	K562	blood:

Variant related genes	Relation type
ENSG00000246523	Chromatin interaction
ENSG00000174804	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10466732	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10751146	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10792898	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10792899	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12419551	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12790462	0.90[EUR][1000 genomes]
rs1378879	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1531146	0.85[EUR][1000 genomes]
rs1551503	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1963952	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1968740	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1968742	0.85[EUR][1000 genomes]
rs2001411	0.87[EUR][1000 genomes]
rs2034848	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2077594	0.87[EUR][1000 genomes]
rs2445535	0.88[EUR][1000 genomes]
rs2445575	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2445580	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2445586	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2445589	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2512330	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2512332	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2512356	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2512357	0.87[EUR][1000 genomes]
rs2512358	0.85[EUR][1000 genomes]
rs2512365	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2512367	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2512389	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2512395	0.85[EUR][1000 genomes]
rs2512396	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2512397	0.83[EUR][1000 genomes]
rs2512485	0.88[EUR][1000 genomes]
rs2512499	0.88[EUR][1000 genomes]
rs2513210	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2513212	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2513214	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2513215	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2513218	0.88[EUR][1000 genomes]
rs2513224	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2513228	0.88[EUR][1000 genomes]
rs2513233	0.88[EUR][1000 genomes]
rs2513239	0.85[EUR][1000 genomes]
rs2513240	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3133317	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3133319	0.83[EUR][1000 genomes]
rs3133361	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4245430	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4943971	0.88[EUR][1000 genomes]
rs4944662	0.91[EUR][1000 genomes]
rs7927570	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7943307	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7943346	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7943831	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7949018	0.88[EUR][1000 genomes]
rs991773	0.84[EUR][1000 genomes];0.82[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	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1037042	chr11:86586876-86978492	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv541119	chr11:86586876-86978492	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86748000-86751000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr11:86748200-86751000	Active TSS	Ovary	ovary
3	chr11:86748200-86751400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:86748400-86751200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr11:86748400-86751200	Active TSS	Aorta	Aorta
6	chr11:86748400-86751800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:86748400-86752000	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr11:86748600-86751000	Active TSS	NHLF	lung
9	chr11:86749000-86751000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:86749200-86751400	Active TSS	Right Atrium	heart
11	chr11:86749400-86752200	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr11:86749600-86751000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:86749600-86751200	Active TSS	HepG2	liver
14	chr11:86749600-86751400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:86749600-86754200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:86749600-86758200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:86749600-86766800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:86749800-86751000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr11:86749800-86751200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr11:86749800-86751400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:86749800-86751400	Flanking Active TSS	Dnd41	blood
22	chr11:86749800-86753800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr11:86750000-86751000	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr11:86750000-86751000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:86750000-86751000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:86750000-86751000	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr11:86750000-86751000	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr11:86750000-86751000	Enhancers	Brain Germinal Matrix	brain
29	chr11:86750000-86751200	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr11:86750000-86751200	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr11:86750000-86751400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:86750000-86751400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr11:86750000-86751600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr11:86750000-86752600	Enhancers	Brain Angular Gyrus	brain
35	chr11:86750000-86756400	Weak transcription	Primary B cells from cord blood	blood
36	chr11:86750000-86765800	Weak transcription	Placenta	Placenta
37	chr11:86750200-86751000	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr11:86750200-86751000	Enhancers	Osteobl	bone
39	chr11:86750200-86751600	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr11:86750200-86752200	Enhancers	Fetal Brain Male	brain
41	chr11:86750400-86751000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:86750400-86751000	Enhancers	Primary T cells from cord blood	blood
43	chr11:86750400-86751000	Enhancers	GM12878-XiMat	blood
44	chr11:86750400-86751000	Enhancers	NH-A	brain
45	chr11:86750400-86751000	Flanking Active TSS	NHDF-Ad	bronchial
46	chr11:86750400-86751200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:86750400-86751200	Enhancers	Brain Hippocampus Middle	brain
48	chr11:86750400-86751200	Enhancers	Fetal Heart	heart
49	chr11:86750400-86751600	Enhancers	Fetal Lung	lung
50	chr11:86750400-86752000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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