Variant report

Variant	rs11207123
Chromosome Location	chr1:58310702-58310703
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11207113	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs11207116	0.86[AFR][1000 genomes]
rs11207120	0.86[AFR][1000 genomes]
rs11207125	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12058316	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12063361	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12072058	0.90[AFR][1000 genomes]
rs12077887	1.00[AMR][1000 genomes]
rs12078749	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs12081343	0.88[YRI][hapmap]
rs12081493	1.00[YRI][hapmap]
rs12084446	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12086375	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12086654	0.85[YRI][hapmap]
rs12092417	0.85[YRI][hapmap]
rs12092824	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6679423	1.00[AFR][1000 genomes]
rs6695286	0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[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	nsv1015057	chr1:57976993-58793962	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv530017	chr1:58002290-58669736	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv431379	chr1:58224212-58802608	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv829937	chr1:58258288-58406506	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58307200-58314200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:58308600-58311800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:58308600-58311800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:58308800-58313000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:58309000-58311200	Enhancers	NH-A	brain
6	chr1:58309000-58311600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:58309000-58316200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:58309400-58310800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:58309400-58313000	Enhancers	HMEC	breast
10	chr1:58309600-58310800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:58310200-58311200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr1:58310400-58311200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:58310600-58310800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:58310600-58310800	Flanking Active TSS	NHEK	skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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