Variant report

Variant	rs7283257
Chromosome Location	chr21:40321711-40321712
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40313934..40316767-chr21:40319047..40321824,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10854393	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10854394	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10854395	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11088460	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11088461	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12165276	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2410071	1.00[CEU][hapmap]
rs2836793	0.88[ASN][1000 genomes]
rs2836794	0.88[ASN][1000 genomes]
rs2836809	1.00[CEU][hapmap]
rs2836810	1.00[CEU][hapmap]
rs60997307	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7278217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs732339	1.00[CEU][hapmap]
rs732340	1.00[CEU][hapmap]
rs8129750	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs8131869	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8133475	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs881558	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs973193	1.00[CEU][hapmap]
rs9980120	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9980681	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9981682	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9982548	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9982800	0.88[ASN][1000 genomes]
rs9983903	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40310800-40329600	Weak transcription	Thymus	Thymus
2	chr21:40317800-40324000	Enhancers	NHDF-Ad	bronchial
3	chr21:40318000-40322000	Weak transcription	Fetal Intestine Large	intestine
4	chr21:40318000-40331200	Weak transcription	Aorta	Aorta
5	chr21:40318400-40322600	Weak transcription	Fetal Lung	lung
6	chr21:40318800-40326400	Weak transcription	Left Ventricle	heart
7	chr21:40318800-40326600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr21:40319400-40322400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr21:40319400-40323400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr21:40319800-40323200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr21:40319800-40326400	Weak transcription	Spleen	Spleen
12	chr21:40320400-40322600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr21:40320800-40322000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr21:40320800-40322400	Weak transcription	Osteobl	bone
15	chr21:40321000-40322000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr21:40321000-40322800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr21:40321000-40327400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr21:40321400-40322400	ZNF genes & repeats	Fetal Intestine Small	intestine
19	chr21:40321600-40322400	Enhancers	Stomach Mucosa	stomach
20	chr21:40321600-40323600	Enhancers	NHLF	lung

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