Variant report

Variant	rs2108709
Chromosome Location	chr14:72489841-72489842
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11850239	1.00[JPT][hapmap]
rs2190871	1.00[JPT][hapmap]
rs36746	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899414	1.00[JPT][hapmap]
rs4899415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902967	1.00[JPT][hapmap]
rs4902968	1.00[JPT][hapmap]
rs4902969	1.00[JPT][hapmap]
rs4902970	1.00[JPT][hapmap]
rs4902973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902975	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs758235	1.00[JPT][hapmap]
rs8003097	1.00[JPT][hapmap]
rs8004427	1.00[JPT][hapmap]
rs8022771	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1053520	chr14:72485195-72537202	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72489200-72490200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:72489200-72491000	Enhancers	HMEC	breast
3	chr14:72489400-72490000	Flanking Active TSS	NHEK	skin
4	chr14:72489600-72490400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:72489600-72490600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:72489600-72490600	Enhancers	Hela-S3	cervix
7	chr14:72489600-72491200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr14:72489600-72491200	Enhancers	Adipose Nuclei	Adipose
9	chr14:72489600-72491200	Enhancers	GM12878-XiMat	blood
10	chr14:72489800-72490000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr14:72489800-72491600	Enhancers	Cortex derived primary cultured neurospheres	brain

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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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