Variant report

Variant	rs552822
Chromosome Location	chr7:78480071-78480072
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1207820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12670051	0.87[ASN][1000 genomes]
rs1330497	0.92[CHB][hapmap];0.94[JPT][hapmap]
rs1330498	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs1642897	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs17454991	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs1799011	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs1799013	0.84[CHB][hapmap];0.83[JPT][hapmap]
rs1799014	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs1799015	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs1928911	0.87[ASN][1000 genomes]
rs1928912	0.87[ASN][1000 genomes]
rs2065198	1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs472023	0.86[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap]
rs4730552	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs474780	0.88[ASN][1000 genomes]
rs488478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs491394	0.88[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs492944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs504216	0.85[CHB][hapmap];0.93[JPT][hapmap];0.89[YRI][hapmap]
rs508142	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs508789	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs508841	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs514025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs514156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs514951	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs516085	0.99[ASN][1000 genomes]
rs522601	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs527231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs529602	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs535355	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap]
rs535451	0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs541737	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs546953	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs550607	0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs563887	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs564808	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs571376	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs571502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs573635	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs576744	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs578047	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs578326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950191	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7794352	0.86[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs961928	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs9641491	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs969699	0.92[CHB][hapmap];0.94[JPT][hapmap]

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	nsv607657	chr7:78329795-78483211	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv949647	chr7:78406281-78495913	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1024961	chr7:78432257-78483201	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78478600-78480800	Enhancers	HSMMtube	muscle
2	chr7:78478600-78484600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr7:78478600-78484600	Enhancers	HSMM	muscle
4	chr7:78479200-78480200	Enhancers	HepG2	liver
5	chr7:78479400-78480800	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr7:78479600-78480200	Enhancers	Fetal Heart	heart
7	chr7:78479800-78480200	Enhancers	Brain Cingulate Gyrus	brain
8	chr7:78479800-78480200	Enhancers	Brain Hippocampus Middle	brain
9	chr7:78479800-78480200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:78479800-78480800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr7:78479800-78481000	Enhancers	Brain Angular Gyrus	brain
12	chr7:78479800-78482400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:78480000-78480200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr7:78480000-78480800	Enhancers	Brain Substantia Nigra	brain
15	chr7:78480000-78480800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr7:78480000-78481000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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