Variant report

Variant	rs1813323
Chromosome Location	chr1:226500831-226500832
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	chr1:226482037..226484983-chr1:226498404..226500947,2	K562	blood:
2	chr1:226499763..226503129-chr1:226508161..226511446,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10127753	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10127776	0.86[ASW][hapmap];0.91[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.91[LWK][hapmap];0.94[MKK][hapmap];0.85[TSI][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10127970	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10753416	0.95[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes]
rs10799341	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10799343	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10799344	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10799346	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10799347	0.91[CEU][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10915964	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10915970	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1219658	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs1417766	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17263666	0.93[ASW][hapmap];0.89[LWK][hapmap];0.85[MKK][hapmap]
rs2126573	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2126577	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2126578	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2169567	0.95[CEU][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs2254723	0.95[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2377026	0.91[CEU][hapmap];0.89[CHB][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2377028	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs2377029	0.83[EUR][1000 genomes]
rs2615799	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs2615803	0.95[CEU][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2666429	1.00[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2889537	0.95[CEU][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4418563	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4612598	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6605032	0.95[CEU][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs6656074	0.83[ASN][1000 genomes]
rs7552015	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9725097	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]

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	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv517107	chr1:226375267-226508645	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv873233	chr1:226385623-226508645	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv832770	chr1:226465130-226655512	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1813323	ACBD3	Cis_1M	lymphoblastoid	RTeQTL
rs1813323	LIN9	cis	cerebellum	SCAN
rs1813323	CNIH4	cis	cerebellum	SCAN
rs1813323	ITPKB	cis	cerebellum	SCAN
rs1813323	GJC2	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226498600-226503800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:226498800-226502200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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