Variant report

Variant	rs4885303
Chromosome Location	chr13:76088510-76088511
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76076405..76080634-chr13:76083700..76088829,4	K562	blood:
2	chr13:76075450..76077905-chr13:76087329..76089009,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1050235	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11148993	0.87[CEU][hapmap]
rs12146901	0.84[AMR][1000 genomes]
rs12146907	0.84[AMR][1000 genomes]
rs12859594	0.80[EUR][1000 genomes]
rs12859711	0.80[EUR][1000 genomes]
rs12861744	0.82[CEU][hapmap];0.80[EUR][1000 genomes]
rs12861774	0.82[EUR][1000 genomes]
rs12865529	0.94[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs12866747	0.80[EUR][1000 genomes]
rs12869081	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12871445	0.82[EUR][1000 genomes]
rs17064647	0.94[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs2031234	0.83[CEU][hapmap];0.80[EUR][1000 genomes]
rs34072684	0.80[EUR][1000 genomes]
rs34241221	0.80[EUR][1000 genomes]
rs34407556	0.80[EUR][1000 genomes]
rs34572351	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34949196	0.80[EUR][1000 genomes]
rs35132045	0.80[EUR][1000 genomes]
rs35132275	0.82[EUR][1000 genomes]
rs35352582	0.80[EUR][1000 genomes]
rs35556048	0.89[EUR][1000 genomes]
rs35596538	0.89[EUR][1000 genomes]
rs35631959	0.82[EUR][1000 genomes]
rs35680815	0.85[EUR][1000 genomes]
rs35853105	0.85[EUR][1000 genomes]
rs35901810	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36043532	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4885298	0.87[CEU][hapmap]
rs4885299	0.87[GIH][hapmap];0.85[MEX][hapmap]
rs4885302	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4885304	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4885310	0.85[EUR][1000 genomes]
rs4885311	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs4885315	0.80[EUR][1000 genomes]
rs4885327	0.80[EUR][1000 genomes]
rs6562904	1.00[EUR][1000 genomes]
rs6562905	0.83[CEU][hapmap]
rs6562910	0.80[EUR][1000 genomes]
rs66528354	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66635712	0.80[EUR][1000 genomes]
rs66808557	0.85[EUR][1000 genomes]
rs67051742	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67211435	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67270540	0.80[EUR][1000 genomes]
rs67532736	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67656352	0.80[EUR][1000 genomes]
rs68017902	0.80[EUR][1000 genomes]
rs68044755	0.82[EUR][1000 genomes]
rs68052366	0.80[EUR][1000 genomes]
rs71215998	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7321611	0.80[EUR][1000 genomes]
rs7324560	0.83[CEU][hapmap];0.80[EUR][1000 genomes]
rs7325969	0.83[CEU][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes]
rs7337186	0.82[CEU][hapmap]
rs9530443	1.00[CEU][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9530444	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9543938	0.81[CEU][hapmap]
rs9543943	0.87[CEU][hapmap]
rs9543950	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9543952	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9543953	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9543961	0.89[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9543962	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9573581	0.83[CEU][hapmap]
rs9593081	0.80[CEU][hapmap]

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	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv455987	chr13:75972846-76090084	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv562346	chr13:75972846-76090084	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv900562	chr13:76072743-76176680	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers 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	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4885303	LMO7	cis	parietal	SCAN
rs4885303	UCHL3	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76082600-76095400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:76085800-76088800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr13:76086600-76088600	Flanking Active TSS	GM12878-XiMat	blood
4	chr13:76088000-76088800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr13:76088000-76089000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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