Variant report

Variant	rs11812546
Chromosome Location	chr10:49701384-49701385
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10400143	0.90[ASN][1000 genomes]
rs10735226	1.00[JPT][hapmap]
rs10776614	1.00[JPT][hapmap]
rs10776615	1.00[JPT][hapmap]
rs10857592	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs10857596	1.00[JPT][hapmap]
rs11101355	1.00[JPT][hapmap]
rs11101357	1.00[JPT][hapmap]
rs11101368	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs11101377	1.00[JPT][hapmap]
rs11101381	1.00[JPT][hapmap]
rs11101382	1.00[JPT][hapmap]
rs12358311	1.00[JPT][hapmap]
rs12358315	1.00[JPT][hapmap]
rs12777174	1.00[JPT][hapmap]
rs12777190	1.00[JPT][hapmap]
rs1345109	1.00[JPT][hapmap]
rs1345110	1.00[JPT][hapmap]
rs1345111	1.00[JPT][hapmap]
rs1348633	1.00[JPT][hapmap]
rs17697837	1.00[JPT][hapmap]
rs17697885	1.00[JPT][hapmap]
rs17770615	1.00[JPT][hapmap]
rs1814469	1.00[JPT][hapmap]
rs1838568	1.00[JPT][hapmap]
rs1838569	1.00[JPT][hapmap]
rs1838570	1.00[JPT][hapmap]
rs1838573	1.00[JPT][hapmap]
rs1965170	1.00[JPT][hapmap]
rs2077152	1.00[JPT][hapmap]
rs2141515	1.00[JPT][hapmap]
rs3906889	0.83[ASN][1000 genomes]
rs4080665	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs41510345	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs4450130	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs4838418	1.00[JPT][hapmap]
rs4838605	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs4838606	1.00[JPT][hapmap]
rs56342922	0.83[ASN][1000 genomes]
rs60214846	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60262503	0.83[ASN][1000 genomes]
rs61838729	0.81[ASN][1000 genomes]
rs61838734	0.83[ASN][1000 genomes]
rs7069220	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7071095	1.00[JPT][hapmap]
rs7071480	1.00[JPT][hapmap]
rs7074631	1.00[JPT][hapmap]
rs7085183	1.00[JPT][hapmap]
rs7085335	1.00[JPT][hapmap]
rs7087729	1.00[JPT][hapmap]
rs7093726	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7094216	1.00[JPT][hapmap]
rs7096053	1.00[JPT][hapmap]
rs7098068	1.00[JPT][hapmap]
rs72783089	0.81[ASN][1000 genomes]
rs72783093	0.85[ASN][1000 genomes]
rs72783094	0.95[ASN][1000 genomes]
rs72783101	0.95[ASN][1000 genomes]
rs72785120	0.82[ASN][1000 genomes]
rs73303077	0.92[ASN][1000 genomes]
rs747533	1.00[JPT][hapmap]
rs7895980	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7911247	1.00[JPT][hapmap]
rs7915233	1.00[JPT][hapmap]
rs935271	1.00[JPT][hapmap]

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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49679800-49704200	Weak transcription	NH-A	brain
2	chr10:49679800-49704200	Weak transcription	NHDF-Ad	bronchial
3	chr10:49685800-49704800	Weak transcription	HUVEC	blood vessel
4	chr10:49687000-49704400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr10:49687600-49703800	Weak transcription	HSMMtube	muscle
6	chr10:49689200-49701400	Weak transcription	Right Atrium	heart
7	chr10:49693000-49701800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr10:49696800-49702600	Weak transcription	HSMM	muscle
9	chr10:49698000-49731200	Weak transcription	Aorta	Aorta
10	chr10:49698200-49702600	Enhancers	Brain Substantia Nigra	brain
11	chr10:49698400-49703800	Enhancers	Primary hematopoietic stem cells	blood
12	chr10:49699000-49702200	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr10:49699200-49702400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:49699200-49705200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr10:49699200-49706000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr10:49699200-49706400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:49699400-49702000	Strong transcription	Osteobl	bone
18	chr10:49699400-49705200	Weak transcription	Brain Anterior Caudate	brain
19	chr10:49699800-49704800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr10:49700200-49701400	Weak transcription	Brain Hippocampus Middle	brain
21	chr10:49700400-49704200	Enhancers	Fetal Thymus	thymus
22	chr10:49700600-49702600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr10:49700600-49706800	Enhancers	K562	blood
24	chr10:49700800-49702400	Strong transcription	NHLF	lung
25	chr10:49701000-49703000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr10:49701000-49703000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr10:49701000-49703400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr10:49701000-49703400	Enhancers	NHEK	skin
29	chr10:49701000-49703800	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr10:49701200-49701400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr10:49701200-49701600	Enhancers	Left Ventricle	heart
32	chr10:49701200-49702000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr10:49701200-49702000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr10:49701200-49702000	Enhancers	Brain Angular Gyrus	brain
35	chr10:49701200-49702000	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr10:49701200-49702200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr10:49701200-49702200	Enhancers	Brain Cingulate Gyrus	brain
38	chr10:49701200-49702400	Enhancers	Fetal Muscle Trunk	muscle
39	chr10:49701200-49703200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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