Variant report

Variant	rs16827348
Chromosome Location	chr2:134398425-134398426
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10928457	0.84[AFR][1000 genomes]
rs11901215	1.00[MEX][hapmap]
rs12614645	0.81[AFR][1000 genomes]
rs59384957	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60998215	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6430440	1.00[AMR][1000 genomes]
rs72998142	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72998162	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73002007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7561867	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv431713	chr2:134316522-134413604	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv2934	chr2:134368478-134412454	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv998920	chr2:134382097-134424640	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134392200-134398800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:134392800-134399000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:134395000-134399600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:134395800-134402800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:134396600-134399000	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr2:134397000-134398800	Active TSS	Brain Anterior Caudate	brain
7	chr2:134397000-134399000	Active TSS	Brain Hippocampus Middle	brain
8	chr2:134397200-134399200	Active TSS	Brain Substantia Nigra	brain
9	chr2:134397200-134399200	Flanking Active TSS	NHEK	skin
10	chr2:134397400-134398600	Active TSS	HMEC	breast
11	chr2:134397600-134399400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:134397600-134402000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:134397800-134399200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:134397800-134399200	Active TSS	Brain Angular Gyrus	brain
15	chr2:134398000-134399000	Active TSS	Brain Cingulate Gyrus	brain
16	chr2:134398400-134398800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:134398400-134399200	Enhancers	Placenta Amnion	Placenta Amnion

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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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