Variant report

Variant	rs7563888
Chromosome Location	chr2:56473714-56473715
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1001471	0.90[JPT][hapmap]
rs10188465	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs10490397	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10490400	0.83[JPT][hapmap]
rs10490401	0.82[JPT][hapmap]
rs11125618	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs12613716	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12623053	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs12623278	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12713316	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12993884	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12994087	0.98[ASN][1000 genomes]
rs12996636	0.95[CHB][hapmap]
rs13004757	0.86[JPT][hapmap]
rs13012528	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs13016868	0.85[JPT][hapmap]
rs13025817	0.87[JPT][hapmap]
rs13403828	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs13429808	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1468914	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs17047656	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17047684	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17047705	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2111476	0.90[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2193485	0.86[JPT][hapmap]
rs2216325	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2216332	0.86[JPT][hapmap]
rs35637593	0.99[ASN][1000 genomes]
rs3971875	0.92[ASN][1000 genomes]
rs57041406	0.85[ASN][1000 genomes]
rs6710311	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6730327	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs7576428	0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.92[ASN][1000 genomes]
rs7588401	0.92[ASN][1000 genomes]
rs7590310	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7591193	0.99[ASN][1000 genomes]
rs7591392	0.99[ASN][1000 genomes]
rs759615	0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs7602551	0.90[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs9653542	0.99[ASN][1000 genomes]
rs969301	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs969302	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs969303	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874162	chr2:56255832-56480571	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv530516	chr2:56447922-56633505	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56470400-56475400	Weak transcription	Psoas Muscle	Psoas
2	chr2:56472600-56475400	Weak transcription	Left Ventricle	heart
3	chr2:56472600-56476800	Weak transcription	Fetal Intestine Large	intestine
4	chr2:56472600-56477600	Weak transcription	Fetal Intestine Small	intestine
5	chr2:56472800-56474200	Weak transcription	Fetal Heart	heart
6	chr2:56473000-56476200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:56473000-56487200	Weak transcription	HSMM	muscle

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