Variant report

Variant	rs11916993
Chromosome Location	chr3:17618592-17618593
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11917279	0.94[AFR][1000 genomes]
rs11923225	0.83[AFR][1000 genomes]
rs11925079	0.94[AFR][1000 genomes]
rs56975774	0.89[AFR][1000 genomes]
rs57167178	0.94[AFR][1000 genomes]
rs58983540	1.00[AFR][1000 genomes]
rs59007406	0.94[AFR][1000 genomes]
rs59994592	0.83[AFR][1000 genomes]
rs60535468	0.94[AFR][1000 genomes]
rs73153022	0.94[AFR][1000 genomes]
rs73155232	0.94[AFR][1000 genomes]
rs73160960	0.95[AFR][1000 genomes]
rs73161449	0.94[AFR][1000 genomes]
rs73161460	0.94[AFR][1000 genomes]
rs73165737	1.00[AFR][1000 genomes]
rs73165787	0.89[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	nsv876591	chr3:17246392-17671992	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv915606	chr3:17357042-17668263	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv999460	chr3:17360261-17720103	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv536510	chr3:17360261-17720103	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1013069	chr3:17560456-17783372	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17580000-17619400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:17596000-17619600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr3:17608000-17621600	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr3:17608600-17621200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr3:17610800-17619400	Weak transcription	A549	lung
6	chr3:17613600-17621800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:17614800-17623400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:17615200-17619400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:17615600-17620200	Weak transcription	Primary B cells from cord blood	blood
10	chr3:17615800-17619200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr3:17616000-17663600	Weak transcription	Left Ventricle	heart
12	chr3:17616400-17619600	Weak transcription	GM12878-XiMat	blood
13	chr3:17617200-17620800	Weak transcription	Primary B cells from peripheral blood	blood

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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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