Variant report

Variant	rs8000417
Chromosome Location	chr13:94598156-94598157
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1415736	0.91[GIH][hapmap]
rs1415740	0.89[CEU][hapmap];0.86[AMR][1000 genomes]
rs1832360	0.84[AMR][1000 genomes]
rs1933145	0.84[AMR][1000 genomes]
rs1933146	0.84[CEU][hapmap];0.90[AMR][1000 genomes]
rs1933147	0.84[CEU][hapmap];0.91[AMR][1000 genomes]
rs1933148	0.92[AMR][1000 genomes]
rs2389078	1.00[CEU][hapmap];0.93[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2892675	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4771885	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6650320	0.84[CEU][hapmap]
rs6650321	0.84[CEU][hapmap];0.86[AMR][1000 genomes]
rs7323264	0.84[CEU][hapmap];0.87[MEX][hapmap];0.86[AMR][1000 genomes]
rs7325794	0.84[CEU][hapmap]
rs7985851	0.84[CEU][hapmap]
rs9284275	0.81[GIH][hapmap];0.82[MEX][hapmap];0.84[AMR][1000 genomes]
rs9284276	0.84[CEU][hapmap];0.86[AMR][1000 genomes]
rs9301919	0.86[AMR][1000 genomes]
rs9301920	0.84[CEU][hapmap];0.97[GIH][hapmap];0.87[MEX][hapmap];0.86[AMR][1000 genomes]
rs9301921	0.84[CEU][hapmap]
rs945937	0.86[AMR][1000 genomes]
rs945938	0.86[AMR][1000 genomes]
rs9516319	0.82[GIH][hapmap];0.87[MEX][hapmap];0.92[AMR][1000 genomes]
rs9516323	0.82[MEX][hapmap]
rs9524284	0.84[CEU][hapmap]
rs9524288	0.84[AMR][1000 genomes]
rs9524290	1.00[GIH][hapmap];0.87[MEX][hapmap];0.84[AMR][1000 genomes]
rs9524292	0.84[CEU][hapmap];0.86[AMR][1000 genomes]
rs9524294	0.86[AMR][1000 genomes]
rs9524295	0.82[AMR][1000 genomes]
rs9589877	0.82[MEX][hapmap]
rs981341	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948714	chr13:94100104-94699435	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv933807	chr13:94187158-94845505	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1045230	chr13:94277683-94764671	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv948455	chr13:94451368-94988900	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv916640	chr13:94521959-95101443	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv533063	chr13:94560362-95101443	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1052141	chr13:94596760-94689892	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8000417	CCL23	trans	cerebellum	SCAN
rs8000417	TGDS	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94595200-94602800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:94597400-94598600	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr13:94598000-94600800	Weak transcription	Fetal Lung	lung
4	chr13:94598000-94608200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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