Variant report

Variant	rs592206
Chromosome Location	chr12:10126427-10126428
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1060648	0.94[ASW][hapmap];0.81[MEX][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes]
rs2760953	0.81[MEX][hapmap]
rs2961544	0.94[ASW][hapmap];0.81[MEX][hapmap];0.93[YRI][hapmap]
rs519291	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs526157	0.81[MEX][hapmap]
rs566229	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs570082	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs608418	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs609216	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs623182	0.85[EUR][1000 genomes]
rs623269	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs623728	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs640817	0.81[MEX][hapmap]
rs650368	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898755	chr12:10069302-10186284	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1038226	chr12:10121288-10143591	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1043125	chr12:10121288-10177037	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1042106	chr12:10121288-10177636	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1040610	chr12:10121288-10179374	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv525593	chr12:10121347-10156646	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs592206	CLEC12A	cis	Whole Blood	GTEx
rs592206	PRH2	cis	parietal	SCAN
rs592206	SCARNA12	cis	cerebellum	SCAN
rs592206	VAMP1	cis	cerebellum	SCAN
rs592206	CLEC1B	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10124400-10126600	Active TSS	Primary B cells from cord blood	blood
2	chr12:10124600-10126800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:10125200-10126800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:10125400-10126800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr12:10126000-10127000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
6	chr12:10126200-10126600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:10126200-10126800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr12:10126200-10127000	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
9	chr12:10126200-10128400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:10126400-10126600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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