Variant report

Variant	rs4320747
Chromosome Location	chr1:179760942-179760943
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1148824	0.92[CEU][hapmap];0.88[GIH][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs1148825	0.88[GIH][hapmap]
rs1281421	0.81[CEU][hapmap];0.86[GIH][hapmap]
rs1281422	0.80[ASN][1000 genomes]
rs2236589	0.84[GIH][hapmap]
rs2647226	0.92[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2777920	0.84[CEU][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.84[JPT][hapmap];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2794586	0.88[GIH][hapmap];0.83[TSI][hapmap]
rs2794589	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3845386	1.00[CEU][hapmap];0.88[GIH][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6425594	0.96[CEU][hapmap];0.86[GIH][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6658638	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6684425	0.92[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6690639	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6695329	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs6701652	0.83[CEU][hapmap];0.80[EUR][1000 genomes]
rs7552673	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs904272	0.84[CEU][hapmap];0.84[JPT][hapmap];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009961	chr1:179714247-179790110	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1011407	chr1:179733193-179799430	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179757800-179764400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:179758200-179761000	Weak transcription	Fetal Intestine Small	intestine
3	chr1:179758200-179761600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:179758400-179761200	Weak transcription	Fetal Intestine Large	intestine

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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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