Variant report

Variant	rs2052692
Chromosome Location	chr11:10667641-10667642
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:10663428..10665355-chr11:10666767..10668361,2	K562	blood:
2	chr11:10665534..10668459-chr11:10683707..10686559,2	K562	blood:
3	chr11:10665821..10668759-chr11:10676865..10679050,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1035691	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs10840453	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10840457	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11042902	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs11042906	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11603178	1.00[JPT][hapmap]
rs1462940	1.00[JPT][hapmap]
rs1544861	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16908001	1.00[JPT][hapmap]
rs16927077	1.00[JPT][hapmap]
rs17318955	1.00[JPT][hapmap]
rs17403439	1.00[JPT][hapmap]
rs17403460	1.00[JPT][hapmap]
rs17403795	1.00[JPT][hapmap]
rs17403942	1.00[JPT][hapmap]
rs17403977	1.00[JPT][hapmap]
rs1863243	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1863244	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1979367	1.00[JPT][hapmap]
rs2052690	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2052691	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2098839	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4025	1.00[JPT][hapmap]
rs41464450	1.00[JPT][hapmap]
rs4442541	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4909945	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4910160	1.00[JPT][hapmap]
rs4910165	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6484437	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7936275	0.91[AMR][1000 genomes]
rs7940646	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs881869	1.00[JPT][hapmap]
rs903822	1.00[JPT][hapmap]
rs903823	1.00[JPT][hapmap]

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	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv832063	chr11:10618485-10785281	ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2052692	SPON1	cis	cerebellum	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10646000-10679000	Weak transcription	Fetal Lung	lung
2	chr11:10646200-10679200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr11:10650400-10678600	Weak transcription	Right Ventricle	heart
4	chr11:10651800-10670600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:10652400-10668200	Weak transcription	NHLF	lung
6	chr11:10653200-10668200	Weak transcription	Esophagus	oesophagus
7	chr11:10653600-10669000	Weak transcription	Fetal Intestine Small	intestine
8	chr11:10658800-10676600	Enhancers	Primary B cells from peripheral blood	blood
9	chr11:10661200-10673600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:10661600-10669000	Weak transcription	NH-A	brain
11	chr11:10662400-10672000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:10663600-10670200	Weak transcription	NHDF-Ad	bronchial
13	chr11:10663800-10669000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:10664000-10669000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:10664200-10668000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr11:10664200-10668600	Weak transcription	Fetal Intestine Large	intestine
17	chr11:10664200-10672000	Weak transcription	Fetal Muscle Leg	muscle
18	chr11:10664200-10678800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:10664400-10668800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr11:10664400-10675000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr11:10664600-10670600	Weak transcription	Primary B cells from cord blood	blood
22	chr11:10665000-10667800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr11:10665000-10668000	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr11:10665000-10668600	Weak transcription	Placenta	Placenta
25	chr11:10665000-10670000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr11:10665200-10667800	Weak transcription	Brain Anterior Caudate	brain
27	chr11:10665600-10667800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr11:10665600-10668200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr11:10665600-10672200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr11:10665800-10667800	Weak transcription	Brain Hippocampus Middle	brain
31	chr11:10666400-10668600	Enhancers	Spleen	Spleen
32	chr11:10666400-10669400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:10666400-10671800	Genic enhancers	Stomach Smooth Muscle	stomach
34	chr11:10666600-10667800	Weak transcription	Ovary	ovary
35	chr11:10666600-10668000	Weak transcription	Fetal Stomach	stomach
36	chr11:10666800-10667800	Enhancers	K562	blood
37	chr11:10666800-10668000	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr11:10666800-10669000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:10666800-10669400	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr11:10666800-10669400	Genic enhancers	Aorta	Aorta
41	chr11:10667400-10668000	Enhancers	Fetal Kidney	kidney
42	chr11:10667400-10668200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:10667400-10668200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:10667400-10668400	Enhancers	Colon Smooth Muscle	Colon
45	chr11:10667400-10668600	Enhancers	Rectal Smooth Muscle	rectum
46	chr11:10667400-10669200	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr11:10667400-10669600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:10667600-10668000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:10667600-10668200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:10667600-10668200	Enhancers	HMEC	breast

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