Variant report

Variant	rs12322829
Chromosome Location	chr12:63803344-63803345
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:13)

rs_ID	r²[population]
rs10219539	1.00[AMR][1000 genomes]
rs11174959	1.00[AMR][1000 genomes]
rs1143806	1.00[AMR][1000 genomes]
rs12299909	1.00[AMR][1000 genomes]
rs12300351	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300423	0.81[AFR][1000 genomes]
rs12311676	1.00[AMR][1000 genomes]
rs699625	1.00[AMR][1000 genomes]
rs7315546	1.00[AMR][1000 genomes]
rs74097349	1.00[AMR][1000 genomes]
rs7954967	0.90[AFR][1000 genomes]
rs7957105	1.00[AMR][1000 genomes]
rs7979930	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1035736	chr12:63526274-63920372	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541510	chr12:63526274-63920372	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1052866	chr12:63562442-63879794	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv541511	chr12:63562442-63879794	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv832439	chr12:63688083-63865226	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1044694	chr12:63746069-63920831	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv2422401	chr12:63778527-64017057	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv899167	chr12:63795229-63906892	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63801800-63807600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:63802000-63804200	Enhancers	Dnd41	blood
3	chr12:63802200-63803600	Enhancers	Fetal Heart	heart
4	chr12:63802200-63805800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr12:63802200-63807000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:63802400-63804000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:63802800-63804200	Weak transcription	Left Ventricle	heart
8	chr12:63803000-63805200	Enhancers	Primary hematopoietic stem cells	blood
9	chr12:63803000-63805400	Enhancers	HUVEC	blood vessel
10	chr12:63803200-63803800	Enhancers	Primary T cells from cord 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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