Variant report

Variant	rs516981
Chromosome Location	chr11:63520368-63520369
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63518838..63520761-chr11:63520908..63523772,3	K562	blood:
2	chr11:63520245..63522926-chr11:63528476..63531329,2	MCF-7	breast:
3	chr11:63517407..63520689-chr11:63520908..63522772,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1199383	1.00[AMR][1000 genomes]
rs1301131	1.00[AMR][1000 genomes]
rs2510524	1.00[AMR][1000 genomes]
rs2957251	1.00[AMR][1000 genomes]
rs2957254	1.00[AMR][1000 genomes]
rs2957255	1.00[AMR][1000 genomes]
rs2957256	1.00[AMR][1000 genomes]
rs2959888	1.00[AMR][1000 genomes]
rs480271	1.00[AMR][1000 genomes]
rs489327	1.00[AMR][1000 genomes]
rs489580	1.00[AMR][1000 genomes]
rs496354	1.00[AMR][1000 genomes]
rs501095	1.00[AMR][1000 genomes]
rs502017	1.00[AMR][1000 genomes]
rs502717	1.00[AMR][1000 genomes]
rs512073	1.00[AMR][1000 genomes]
rs516068	1.00[AMR][1000 genomes]
rs518304	1.00[AMR][1000 genomes]
rs518453	1.00[AMR][1000 genomes]
rs519374	1.00[AMR][1000 genomes]
rs520640	1.00[AMR][1000 genomes]
rs528770	1.00[AMR][1000 genomes]
rs533130	1.00[AMR][1000 genomes]
rs538627	1.00[AMR][1000 genomes]
rs540034	1.00[AMR][1000 genomes]
rs542124	1.00[AMR][1000 genomes]
rs554661	1.00[AMR][1000 genomes]
rs560610	1.00[AMR][1000 genomes]
rs569657	1.00[AMR][1000 genomes]
rs573083	1.00[AMR][1000 genomes]
rs622400	1.00[AMR][1000 genomes]
rs653841	1.00[AMR][1000 genomes]
rs694024	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	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
3	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63473000-63529400	Weak transcription	Right Ventricle	heart
2	chr11:63491000-63529600	Weak transcription	Pancreas	Pancrea
3	chr11:63492800-63528000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:63501800-63530000	Weak transcription	Psoas Muscle	Psoas
5	chr11:63506200-63527600	Weak transcription	Fetal Brain Male	brain
6	chr11:63509000-63534800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr11:63511000-63534800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:63511200-63529800	Weak transcription	Stomach Mucosa	stomach
9	chr11:63512000-63524800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr11:63513600-63528400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:63513800-63529200	Weak transcription	Fetal Heart	heart
12	chr11:63514400-63528400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr11:63514400-63528800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr11:63515000-63529800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr11:63515400-63527200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr11:63515800-63527600	Weak transcription	Fetal Lung	lung
17	chr11:63515800-63529200	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr11:63516000-63520800	Strong transcription	Fetal Thymus	thymus
19	chr11:63516000-63521800	Strong transcription	Lung	lung
20	chr11:63516000-63534800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:63516200-63520800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:63516200-63521800	Strong transcription	Fetal Stomach	stomach
23	chr11:63516400-63521600	Strong transcription	Brain Cingulate Gyrus	brain
24	chr11:63516400-63521800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:63516400-63521800	Strong transcription	Brain Germinal Matrix	brain
26	chr11:63516400-63527400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:63516400-63528400	Strong transcription	Adipose Nuclei	Adipose
28	chr11:63516400-63533400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:63516400-63534200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr11:63516600-63520800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:63516600-63521000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:63516600-63521200	Strong transcription	Fetal Intestine Large	intestine
33	chr11:63516600-63521400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:63516600-63521400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr11:63516600-63521400	Strong transcription	Dnd41	blood
36	chr11:63516600-63521600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:63516600-63521600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:63516600-63521600	Strong transcription	Liver	Liver
39	chr11:63516600-63521800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:63516600-63521800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:63516600-63521800	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr11:63516600-63521800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:63516600-63527400	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr11:63516600-63527400	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr11:63516600-63527400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr11:63516600-63528600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:63516600-63533800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr11:63516800-63520600	Strong transcription	Primary T cells from cord blood	blood
49	chr11:63516800-63521400	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr11:63516800-63521600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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