Variant report

Variant	rs7488278
Chromosome Location	chr12:76129356-76129357
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11180656	0.82[EUR][1000 genomes]
rs11180657	0.83[ASW][hapmap];0.82[CEU][hapmap];0.97[LWK][hapmap];0.93[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1275569	0.97[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs1275571	0.89[EUR][1000 genomes]
rs1493788	0.89[AFR][1000 genomes]
rs2367075	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2886858	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4831913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4831948	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes]
rs6582300	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7304154	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7306470	0.90[AFR][1000 genomes]
rs7969221	0.82[CEU][hapmap];0.84[MKK][hapmap];0.85[TSI][hapmap];0.81[EUR][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	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv559422	chr12:76129356-76168066	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7488278	BBS10	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76121600-76132200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr12:76127800-76131000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:76127800-76138400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:76128400-76129400	Weak transcription	Liver	Liver
5	chr12:76128600-76132400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:76129000-76129400	Weak transcription	HepG2	liver
7	chr12:76129200-76130600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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