Variant report

Variant	rs11804733
Chromosome Location	chr1:86812108-86812109
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11161796	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11161797	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11801454	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11803763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11810074	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12079988	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12096446	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34372019	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56841249	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59696140	0.81[AFR][1000 genomes]
rs72949810	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949874	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949875	0.90[AFR][1000 genomes]
rs72949879	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949884	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949902	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951825	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951830	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951832	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951845	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1002541	chr1:86689088-86905902	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv871866	chr1:86726619-86851420	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
5	nsv871081	chr1:86806372-86892819	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86805400-86817400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:86806400-86823600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:86808600-86842800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:86810400-86819200	Weak transcription	NHLF	lung
5	chr1:86810600-86816200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:86810600-86819200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:86810800-86813200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr1:86810800-86815800	Enhancers	HUVEC	blood vessel
9	chr1:86810800-86817400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:86810800-86818600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:86810800-86819400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:86811000-86816400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:86811000-86817400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:86811000-86817800	Weak transcription	Adipose Nuclei	Adipose
15	chr1:86811200-86815400	Weak transcription	Aorta	Aorta
16	chr1:86811200-86818800	Weak transcription	Fetal Thymus	thymus
17	chr1:86811200-86819000	Weak transcription	Fetal Lung	lung
18	chr1:86811400-86817400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:86811400-86817600	Weak transcription	Primary T cells from cord blood	blood
20	chr1:86811600-86812200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:86811600-86819000	Weak transcription	Brain Angular Gyrus	brain
22	chr1:86812000-86818400	Weak transcription	NH-A	brain
23	chr1:86812000-86819200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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