Variant report

Variant	rs2512499
Chromosome Location	chr11:86753948-86753949
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12419551	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1378879	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1531146	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1531147	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1968740	0.94[EUR][1000 genomes]
rs1968742	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2001411	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2077594	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2445535	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2445575	0.88[EUR][1000 genomes]
rs2445580	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2445586	0.96[EUR][1000 genomes]
rs2445589	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2512330	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2512332	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2512356	0.96[EUR][1000 genomes]
rs2512357	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2512358	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2512365	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2512367	0.88[EUR][1000 genomes]
rs2512389	0.94[EUR][1000 genomes]
rs2512395	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2512396	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2512397	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2512485	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2513210	0.92[EUR][1000 genomes]
rs2513212	0.96[EUR][1000 genomes]
rs2513214	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2513215	0.88[EUR][1000 genomes]
rs2513216	0.88[EUR][1000 genomes]
rs2513218	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2513224	0.93[EUR][1000 genomes]
rs2513228	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2513233	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2513239	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2513240	0.94[EUR][1000 genomes]
rs3133317	0.96[EUR][1000 genomes]
rs3133319	0.94[EUR][1000 genomes]
rs3133361	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4943971	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7943307	0.82[EUR][1000 genomes]
rs7943346	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv13345	chr11:86753735-86756555	Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86749600-86754200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:86749600-86758200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:86749600-86766800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:86750000-86756400	Weak transcription	Primary B cells from cord blood	blood
5	chr11:86750000-86765800	Weak transcription	Placenta	Placenta
6	chr11:86750400-86754000	Weak transcription	Fetal Stomach	stomach
7	chr11:86750400-86760600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr11:86750600-86754800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:86750600-86755400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr11:86750600-86755600	Weak transcription	Fetal Intestine Small	intestine
11	chr11:86750600-86755600	Weak transcription	Right Ventricle	heart
12	chr11:86750600-86756400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:86750600-86757600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:86750600-86757800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:86750600-86757800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:86750600-86757800	Weak transcription	Fetal Intestine Large	intestine
17	chr11:86750600-86759800	Weak transcription	Fetal Thymus	thymus
18	chr11:86750600-86760600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr11:86750800-86754000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:86750800-86754200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:86750800-86755000	Weak transcription	NHEK	skin
22	chr11:86750800-86757200	Weak transcription	Fetal Muscle Leg	muscle
23	chr11:86750800-86757800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:86750800-86758600	Weak transcription	HSMM	muscle
25	chr11:86750800-86759800	Weak transcription	HSMMtube	muscle
26	chr11:86750800-86760000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:86750800-86760200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:86750800-86780600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr11:86750800-86782000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr11:86750800-86787400	Weak transcription	A549	lung
31	chr11:86751000-86754400	Weak transcription	Brain Germinal Matrix	brain
32	chr11:86751000-86754800	Weak transcription	Primary T cells from cord blood	blood
33	chr11:86751000-86755000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:86751000-86755400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:86751000-86757000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:86751000-86757400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr11:86751000-86760000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr11:86751000-86786800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:86751000-86787400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:86751200-86754200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:86751200-86754800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:86751200-86755000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr11:86751200-86756200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr11:86751200-86756600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr11:86751200-86757200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:86751200-86762600	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr11:86751200-86785600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:86751400-86754400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:86751400-86756600	Weak transcription	Hela-S3	cervix
50	chr11:86751400-86757400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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