Variant report

Variant	rs1948430
Chromosome Location	chr4:81628702-81628703
allele	A/C
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:16)

rs_ID	r²[population]
rs1486031	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16998198	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17004982	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2017726	0.90[ASN][1000 genomes]
rs329397	0.92[ASN][1000 genomes]
rs329398	0.88[ASN][1000 genomes]
rs329399	0.87[ASN][1000 genomes]
rs329400	0.92[ASN][1000 genomes]
rs329404	0.90[ASN][1000 genomes]
rs329405	0.90[ASN][1000 genomes]
rs59433566	0.81[AMR][1000 genomes]
rs72863181	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72864836	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72864848	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72864878	0.81[EUR][1000 genomes]
rs72864897	0.86[EUR][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	nsv1002776	chr4:81480374-81802614	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv537154	chr4:81480374-81802614	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3518601	chr4:81523238-81831941	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3518602	chr4:81523354-81831976	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr4:81624600-81630600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:81625200-81634400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr4:81626800-81634200	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:81627400-81633000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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