Variant report

Variant	rs12246321
Chromosome Location	chr10:51549711-51549712
allele	A/C
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:16)

rs_ID	r²[population]
rs11003820	1.00[AMR][1000 genomes]
rs11004361	1.00[AMR][1000 genomes]
rs11004455	1.00[AMR][1000 genomes]
rs11005274	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11005729	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12247763	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12249198	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12250658	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16914406	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16914420	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4935595	1.00[AMR][1000 genomes]
rs56301424	1.00[AMR][1000 genomes]
rs59436713	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60528425	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74131171	1.00[AMR][1000 genomes]
rs74131182	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	esv2758219	chr10:50971974-51925166	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	esv2759749	chr10:50971974-51925166	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv428232	chr10:50971974-51925166	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv1830900	chr10:51187411-51903662	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv895383	chr10:51260747-51724915	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv508583	chr10:51385007-51595892	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	esv1815597	chr10:51525699-51804254	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr10:51542800-51552600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr10:51547600-51565000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:51548000-51552400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr10:51548000-51552600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr10:51548200-51552600	Weak transcription	K562	blood
6	chr10:51548600-51549800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr10:51548800-51549800	Enhancers	Duodenum Mucosa	Duodenum
8	chr10:51549200-51552600	Weak transcription	Stomach Mucosa	stomach
9	chr10:51549400-51555200	Weak transcription	HepG2	liver

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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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