Variant report

Variant	rs516068
Chromosome Location	chr11:63510131-63510132
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1199383	1.00[AMR][1000 genomes]
rs1301131	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158455	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs17158456	1.00[YRI][hapmap]
rs2510524	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2957207	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs2957251	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2957254	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2957255	1.00[AMR][1000 genomes]
rs2957256	1.00[AMR][1000 genomes]
rs2959888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs480271	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs489327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs489580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs496346	0.86[AFR][1000 genomes]
rs496354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs499942	1.00[YRI][hapmap]
rs501095	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs502017	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs502717	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs509932	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs512073	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs516981	1.00[AMR][1000 genomes]
rs518304	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs518453	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs519374	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs520640	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs528770	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs533130	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs538627	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs540034	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs542124	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs554092	0.93[AFR][1000 genomes]
rs554661	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs560610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs569657	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs573083	1.00[AMR][1000 genomes]
rs622400	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs653841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs694024	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv832183	chr11:63416678-63564565	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63450800-63517400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr11:63459600-63516600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:63463200-63516200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:63467600-63516000	Weak transcription	Thymus	Thymus
5	chr11:63467600-63517600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr11:63473000-63516000	Weak transcription	Lung	lung
7	chr11:63473000-63518000	Weak transcription	Aorta	Aorta
8	chr11:63473000-63529400	Weak transcription	Right Ventricle	heart
9	chr11:63478800-63517200	Weak transcription	Fetal Intestine Small	intestine
10	chr11:63481000-63517600	Weak transcription	Spleen	Spleen
11	chr11:63481800-63512800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr11:63483400-63517000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:63486200-63519200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:63487000-63516800	Weak transcription	Primary T cells from cord blood	blood
15	chr11:63487400-63516000	Weak transcription	Fetal Thymus	thymus
16	chr11:63487400-63516600	Weak transcription	Dnd41	blood
17	chr11:63487400-63517000	Weak transcription	Fetal Muscle Leg	muscle
18	chr11:63487400-63517600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:63487600-63513400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:63487800-63516600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:63488000-63516600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:63488000-63519800	Weak transcription	NH-A	brain
23	chr11:63488400-63516400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:63488400-63516400	Weak transcription	Brain Germinal Matrix	brain
25	chr11:63488600-63512400	Weak transcription	Adipose Nuclei	Adipose
26	chr11:63491000-63529600	Weak transcription	Pancreas	Pancrea
27	chr11:63492800-63528000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:63494600-63516200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:63497800-63514800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:63499000-63518600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr11:63501800-63518400	Weak transcription	Fetal Brain Female	brain
32	chr11:63501800-63530000	Weak transcription	Psoas Muscle	Psoas
33	chr11:63502000-63516200	Weak transcription	Fetal Stomach	stomach
34	chr11:63502000-63516800	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr11:63505600-63516600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr11:63505600-63517200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:63506000-63513600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:63506200-63512400	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr11:63506200-63516600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:63506200-63517200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:63506200-63517600	Weak transcription	Colon Smooth Muscle	Colon
42	chr11:63506200-63527600	Weak transcription	Fetal Brain Male	brain
43	chr11:63506400-63512800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:63506400-63512800	Weak transcription	Brain Anterior Caudate	brain
45	chr11:63506400-63512800	Weak transcription	HepG2	liver
46	chr11:63506400-63513200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:63506400-63514400	Weak transcription	NHDF-Ad	bronchial
48	chr11:63506400-63516400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:63506400-63516400	Weak transcription	A549	lung
50	chr11:63506400-63516600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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