Variant report

Variant	rs10930486
Chromosome Location	chr2:172472584-172472585
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172457790..172459885-chr2:172470961..172473294,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10185715	0.93[ASN][1000 genomes]
rs10432421	0.93[ASN][1000 genomes]
rs10432422	0.93[ASN][1000 genomes]
rs10432469	0.90[ASN][1000 genomes]
rs10432470	0.92[ASN][1000 genomes]
rs10432471	0.83[ASN][1000 genomes]
rs10432472	0.93[ASN][1000 genomes]
rs10432473	0.95[ASN][1000 genomes]
rs11674857	0.94[ASN][1000 genomes]
rs12622021	0.93[ASN][1000 genomes]
rs12996145	0.86[JPT][hapmap]
rs13002792	0.81[ASN][1000 genomes]
rs1533417	0.91[ASN][1000 genomes]
rs1543128	0.94[ASN][1000 genomes]
rs1554157	0.93[ASN][1000 genomes]
rs1554158	0.93[ASN][1000 genomes]
rs1606926	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1969271	0.93[ASN][1000 genomes]
rs2037158	0.92[ASN][1000 genomes]
rs2037159	0.92[ASN][1000 genomes]
rs2037160	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2037161	0.92[ASN][1000 genomes]
rs2037163	0.93[ASN][1000 genomes]
rs2102739	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2176150	0.94[ASN][1000 genomes]
rs2356796	0.92[ASN][1000 genomes]
rs2884028	0.80[CHB][hapmap];0.81[CHD][hapmap];0.82[ASN][1000 genomes]
rs28893802	0.94[ASN][1000 genomes]
rs4264541	0.91[ASN][1000 genomes]
rs4265979	0.96[ASN][1000 genomes]
rs4668394	0.83[CHD][hapmap];0.90[JPT][hapmap]
rs4668395	0.93[ASN][1000 genomes]
rs4668397	0.86[ASN][1000 genomes]
rs59567105	0.93[ASN][1000 genomes]
rs6433301	0.95[ASN][1000 genomes]
rs6433302	0.96[ASN][1000 genomes]
rs6704691	0.84[ASN][1000 genomes]
rs6718546	0.94[ASN][1000 genomes]
rs6723896	0.95[ASN][1000 genomes]
rs6725338	0.93[ASN][1000 genomes]
rs6745725	0.84[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs6754595	0.93[ASN][1000 genomes]
rs7562302	0.93[ASN][1000 genomes]
rs7571192	0.93[ASN][1000 genomes]
rs7575168	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9287946	0.84[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs9678221	0.94[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs9678229	0.83[AMR][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	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv997638	chr2:172442205-172560406	Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10930486	BBS5	cis	parietal	SCAN
rs10930486	SLC25A12	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172469000-172482600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:172470400-172473400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:172470800-172473600	Enhancers	NHDF-Ad	bronchial
4	chr2:172470800-172474600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:172471200-172475200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:172471400-172473200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:172471800-172472600	Enhancers	HSMM	muscle
8	chr2:172471800-172473200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:172471800-172473200	Enhancers	HSMMtube	muscle

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