Variant report

Variant	rs11811814
Chromosome Location	chr1:197178491-197178492
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10494748	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10494749	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10494750	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10494751	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11800461	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11801772	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11803081	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11808524	0.87[AMR][1000 genomes]
rs11808883	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11809963	0.80[AFR][1000 genomes]
rs11811295	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1337165	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16841212	0.87[AMR][1000 genomes]
rs16841214	0.87[AMR][1000 genomes]
rs16841219	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16841220	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16841237	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16841270	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs61170532	0.87[AMR][1000 genomes]

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	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv873071	chr1:197079671-197187605	Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv873072	chr1:197079671-197221248	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv873073	chr1:197107074-197221248	Flanking Active TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197171600-197181800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:197171600-197181800	Weak transcription	Ovary	ovary
3	chr1:197171800-197179600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:197171800-197181400	Weak transcription	Fetal Heart	heart
5	chr1:197172200-197181400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:197172600-197194200	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:197176800-197181400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:197177800-197180200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:197177800-197183200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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