Variant report

Variant	rs2052691
Chromosome Location	chr11:10664421-10664422
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	chr11:10662421..10664986-chr11:10669210..10672158,2	K562	blood:
3	chr11:10661837..10665351-chr11:10668716..10672933,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1035691	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs10840453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840457	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.90[MKK][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042902	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.80[AMR][1000 genomes]
rs11042906	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11603178	1.00[JPT][hapmap]
rs1462940	1.00[JPT][hapmap]
rs1544861	0.87[AMR][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	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1863244	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1979367	1.00[JPT][hapmap]
rs2052690	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2052692	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2098839	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.94[MEX][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4025	1.00[JPT][hapmap]
rs41464450	1.00[JPT][hapmap]
rs4442541	0.90[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.90[MKK][hapmap];0.83[TSI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4909945	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.86[MKK][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910160	1.00[JPT][hapmap]
rs4910165	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6484437	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7936275	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7940646	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2052691	USP47	cis	cerebellum	SCAN
rs2052691	SPON1	cis	cerebellum	SCAN

Chromatin state (count:54 , 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	chr11:10646800-10667600	Weak transcription	Right Atrium	heart
4	chr11:10650400-10678600	Weak transcription	Right Ventricle	heart
5	chr11:10651800-10670600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:10652400-10668200	Weak transcription	NHLF	lung
7	chr11:10653200-10668200	Weak transcription	Esophagus	oesophagus
8	chr11:10653600-10669000	Weak transcription	Fetal Intestine Small	intestine
9	chr11:10658600-10665000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr11:10658800-10676600	Enhancers	Primary B cells from peripheral blood	blood
11	chr11:10659800-10666000	Weak transcription	Ovary	ovary
12	chr11:10660400-10667600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:10661000-10665400	Enhancers	Colon Smooth Muscle	Colon
14	chr11:10661200-10664600	Genic enhancers	Fetal Stomach	stomach
15	chr11:10661200-10665000	Enhancers	Spleen	Spleen
16	chr11:10661200-10665800	Enhancers	Brain Hippocampus Middle	brain
17	chr11:10661200-10673600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:10661400-10665800	Enhancers	Brain Substantia Nigra	brain
19	chr11:10661600-10669000	Weak transcription	NH-A	brain
20	chr11:10661800-10667600	Weak transcription	Left Ventricle	heart
21	chr11:10662000-10667400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:10662400-10672000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:10662800-10665000	Enhancers	Fetal Muscle Trunk	muscle
24	chr11:10662800-10665400	Enhancers	Brain Angular Gyrus	brain
25	chr11:10663400-10667600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:10663600-10665600	Enhancers	Brain Cingulate Gyrus	brain
27	chr11:10663600-10670200	Weak transcription	NHDF-Ad	bronchial
28	chr11:10663800-10664600	Enhancers	Primary B cells from cord blood	blood
29	chr11:10663800-10664600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:10663800-10664800	Weak transcription	Brain Anterior Caudate	brain
31	chr11:10663800-10665000	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr11:10663800-10665400	Weak transcription	Aorta	Aorta
33	chr11:10663800-10669000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:10664000-10666800	Weak transcription	K562	blood
35	chr11:10664000-10669000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:10664200-10664600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr11:10664200-10664600	Enhancers	GM12878-XiMat	blood
38	chr11:10664200-10666200	Weak transcription	Lung	lung
39	chr11:10664200-10666800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:10664200-10667400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr11:10664200-10667600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:10664200-10668000	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr11:10664200-10668600	Weak transcription	Fetal Intestine Large	intestine
44	chr11:10664200-10672000	Weak transcription	Fetal Muscle Leg	muscle
45	chr11:10664200-10678800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:10664400-10664800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:10664400-10664800	Weak transcription	Placenta	Placenta
48	chr11:10664400-10665600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr11:10664400-10665600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr11:10664400-10666800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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