Variant report

Variant	rs4278171
Chromosome Location	chr8:4824335-4824336
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10088688	0.94[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10094549	0.84[CEU][hapmap]
rs10101412	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10105362	0.83[CEU][hapmap]
rs1011587	0.94[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap]
rs10503294	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs10503296	0.84[CEU][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs11778422	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12114470	0.84[CEU][hapmap]
rs12155630	0.84[CEU][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs12674915	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs13248218	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs13254311	0.86[CEU][hapmap]
rs13264559	0.95[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap]
rs13273154	0.84[CEU][hapmap]
rs2924719	1.00[CEU][hapmap]
rs2924720	0.95[CEU][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2924721	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2924723	0.94[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2924724	0.95[CEU][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2977726	0.81[EUR][1000 genomes]
rs2977727	0.81[EUR][1000 genomes]
rs2977732	0.89[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2977733	0.84[CEU][hapmap]
rs4272399	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4295679	0.84[CEU][hapmap]
rs4329292	0.95[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap]
rs4360313	0.84[CEU][hapmap]
rs4385481	0.84[CEU][hapmap]
rs4436145	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4477045	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4495447	0.95[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4517142	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4517143	0.95[CEU][hapmap];0.88[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4521778	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4537322	0.81[CHB][hapmap]
rs4593565	0.95[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs4614018	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4623447	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs4875426	0.95[CEU][hapmap];0.90[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4875427	0.95[CEU][hapmap];0.90[GIH][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6558951	0.95[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv609876	chr8:4494811-5092970	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1029480	chr8:4497596-5081032	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv498130	chr8:4532988-5176376	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv889976	chr8:4750266-4824335	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1031026	chr8:4771072-5054326	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv609898	chr8:4815582-4828351	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv609899	chr8:4815873-4828351	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1025322	chr8:4818393-4829588	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1028164	chr8:4818462-4829588	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4278171	CLDN23	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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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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