Variant report

Variant	rs17441194
Chromosome Location	chr4:80193292-80193293
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11930784	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1385056	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs17003695	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17003697	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17441480	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17441599	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4302482	0.88[JPT][hapmap]
rs72870849	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72870863	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72870900	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72872309	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72872313	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72872315	0.84[EUR][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	nsv1000907	chr4:79838948-80224764	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv879505	chr4:79887043-80293046	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:80165400-80194000	Weak transcription	Aorta	Aorta
2	chr4:80192200-80202200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:80193000-80196200	Enhancers	Fetal Heart	heart

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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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