Variant report

Variant	rs1283712
Chromosome Location	chr8:108466254-108466255
allele	C/T
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:18)

rs_ID	r²[population]
rs1283675	1.00[JPT][hapmap];0.83[MEX][hapmap];0.82[ASN][1000 genomes]
rs1283676	0.80[ASN][1000 genomes]
rs1283677	0.80[ASN][1000 genomes]
rs1283678	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1283679	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1283680	0.80[ASN][1000 genomes]
rs1283697	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1283699	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1283716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1283727	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1298936	0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs1654680	0.86[CHD][hapmap]
rs1654750	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1654751	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1672165	0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs1672166	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2916083	0.82[CEU][hapmap]
rs2916085	0.86[CHD][hapmap]

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	esv2764100	chr8:108220671-108469233	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1030831	chr8:108224295-108466437	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv539714	chr8:108224295-108466437	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv465760	chr8:108224687-108485912	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv611851	chr8:108224687-108485912	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108450400-108469600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:108450400-108469800	Weak transcription	Psoas Muscle	Psoas
3	chr8:108452400-108467200	Weak transcription	Fetal Lung	lung
4	chr8:108452400-108468000	Weak transcription	Aorta	Aorta
5	chr8:108457400-108467200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:108457600-108466400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:108460200-108466600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:108460200-108467600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:108461400-108467000	Weak transcription	Osteobl	bone
10	chr8:108462000-108469800	Weak transcription	HUVEC	blood vessel
11	chr8:108462800-108466400	Weak transcription	Colon Smooth Muscle	Colon
12	chr8:108464200-108466600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:108464600-108467000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr8:108466200-108466400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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

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