Variant report

Variant	rs288503
Chromosome Location	chr3:69629103-69629104
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1498858	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2556381	0.96[EUR][1000 genomes]
rs288492	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs288494	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs288497	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs288499	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs288500	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs288502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs288511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs288512	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs288513	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs288514	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4855421	1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap]
rs6549239	0.81[CEU][hapmap]
rs748178	0.80[EUR][1000 genomes]
rs7647307	0.80[MEX][hapmap]
rs92481	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007730	chr3:69355932-69730587	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3426797	chr3:69433086-69777229	Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1004470	chr3:69597148-69728231	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1015103	chr3:69619879-69712504	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69628000-69629400	Enhancers	Fetal Muscle Leg	muscle
2	chr3:69628000-69629600	Enhancers	Fetal Brain Male	brain
3	chr3:69628200-69629600	Enhancers	Fetal Brain Female	brain
4	chr3:69628200-69629800	Enhancers	Brain Germinal Matrix	brain
5	chr3:69628400-69629400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr3:69628400-69629400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:69628400-69629600	Flanking Active TSS	Fetal Lung	lung
8	chr3:69628600-69629200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr3:69628600-69629400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:69628600-69629400	Enhancers	Brain Substantia Nigra	brain
11	chr3:69628600-69629400	Enhancers	Fetal Stomach	stomach
12	chr3:69628800-69629200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr3:69628800-69629200	Enhancers	Psoas Muscle	Psoas
14	chr3:69628800-69629400	Active TSS	Brain Angular Gyrus	brain
15	chr3:69628800-69629400	Enhancers	Ovary	ovary
16	chr3:69629000-69629200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
17	chr3:69629000-69629400	Bivalent Enhancer	Adipose Nuclei	Adipose
18	chr3:69629000-69629600	Enhancers	Brain Hippocampus Middle	brain

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

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