Variant report

Variant	rs10840454
Chromosome Location	chr11:10668395-10668396
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10431031	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10770128	0.95[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10770129	0.95[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10770130	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10840451	0.85[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10840455	0.90[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840456	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10840460	0.93[EUR][1000 genomes]
rs10840461	0.93[EUR][1000 genomes]
rs10840462	0.93[EUR][1000 genomes]
rs10840463	0.85[CEU][hapmap];0.93[EUR][1000 genomes]
rs10840464	0.93[EUR][1000 genomes]
rs10840465	0.93[EUR][1000 genomes]
rs10840466	0.93[EUR][1000 genomes]
rs10840467	0.93[EUR][1000 genomes]
rs11042904	0.80[JPT][hapmap]
rs11042909	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042913	0.93[EUR][1000 genomes]
rs12295574	0.93[ASN][1000 genomes]
rs1390572	0.93[EUR][1000 genomes]
rs1425149	0.93[EUR][1000 genomes]
rs1425150	0.85[CEU][hapmap];0.93[EUR][1000 genomes]
rs1425151	0.85[CEU][hapmap];0.93[EUR][1000 genomes]
rs1544862	0.93[EUR][1000 genomes]
rs1559652	0.94[ASN][1000 genomes]
rs1845832	0.93[EUR][1000 genomes]
rs1874444	0.93[EUR][1000 genomes]
rs1895712	0.93[EUR][1000 genomes]
rs2033049	0.81[ASN][1000 genomes]
rs2113897	0.86[ASN][1000 genomes]
rs35040034	0.93[EUR][1000 genomes]
rs3993279	0.88[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs4909943	0.88[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs4909944	0.88[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs4910164	0.89[ASN][1000 genomes]
rs7108708	0.80[JPT][hapmap]
rs7119452	0.80[JPT][hapmap]
rs7123106	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7127014	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs722274	0.93[EUR][1000 genomes]
rs7933525	0.93[EUR][1000 genomes]
rs7935285	0.94[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7938635	0.90[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9633862	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9633863	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][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	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

No data

Chromatin state (count:59 , 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	chr11:10653600-10669000	Weak transcription	Fetal Intestine Small	intestine
6	chr11:10658800-10676600	Enhancers	Primary B cells from peripheral blood	blood
7	chr11:10661200-10673600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:10661600-10669000	Weak transcription	NH-A	brain
9	chr11:10662400-10672000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr11:10663600-10670200	Weak transcription	NHDF-Ad	bronchial
11	chr11:10663800-10669000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:10664000-10669000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:10664200-10668600	Weak transcription	Fetal Intestine Large	intestine
14	chr11:10664200-10672000	Weak transcription	Fetal Muscle Leg	muscle
15	chr11:10664200-10678800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:10664400-10668800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr11:10664400-10675000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr11:10664600-10670600	Weak transcription	Primary B cells from cord blood	blood
19	chr11:10665000-10668600	Weak transcription	Placenta	Placenta
20	chr11:10665000-10670000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr11:10665600-10672200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr11:10666400-10668600	Enhancers	Spleen	Spleen
23	chr11:10666400-10669400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:10666400-10671800	Genic enhancers	Stomach Smooth Muscle	stomach
25	chr11:10666800-10669000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:10666800-10669400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr11:10666800-10669400	Genic enhancers	Aorta	Aorta
28	chr11:10667400-10668400	Enhancers	Colon Smooth Muscle	Colon
29	chr11:10667400-10668600	Enhancers	Rectal Smooth Muscle	rectum
30	chr11:10667400-10669200	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr11:10667400-10669600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr11:10667600-10668400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:10667600-10668400	Enhancers	Left Ventricle	heart
34	chr11:10667600-10668600	Enhancers	Right Atrium	heart
35	chr11:10667600-10668800	Enhancers	Brain Angular Gyrus	brain
36	chr11:10667600-10669000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:10667600-10669400	Enhancers	Brain Substantia Nigra	brain
38	chr11:10667600-10669400	Enhancers	Lung	lung
39	chr11:10667600-10671400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:10667800-10668400	Enhancers	Brain Cingulate Gyrus	brain
41	chr11:10667800-10668600	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr11:10667800-10668800	Weak transcription	K562	blood
43	chr11:10667800-10669400	Enhancers	Brain Hippocampus Middle	brain
44	chr11:10668000-10668400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:10668000-10668400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr11:10668000-10668800	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr11:10668000-10669400	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr11:10668200-10668400	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr11:10668200-10668400	Enhancers	Duodenum Mucosa	Duodenum
50	chr11:10668200-10668600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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