Variant report

Variant	rs972311
Chromosome Location	chr4:121017399-121017400
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10008584	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10010446	0.82[ASN][1000 genomes]
rs1075717	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11727480	0.85[CEU][hapmap];0.90[CHB][hapmap];0.84[CHD][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11942060	0.82[ASN][1000 genomes]
rs12711084	0.90[CHB][hapmap];1.00[CHD][hapmap];0.82[ASN][1000 genomes]
rs13121806	0.81[CHB][hapmap];0.84[CHD][hapmap]
rs1389429	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1908169	0.83[EUR][1000 genomes]
rs1972014	0.81[CHB][hapmap];0.80[CHD][hapmap]
rs2892890	0.81[CHB][hapmap];0.84[CHD][hapmap]
rs2934379	0.81[CHB][hapmap];0.80[CHD][hapmap]
rs3113988	0.80[CHD][hapmap]
rs6534168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6534169	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6534170	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6844428	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7660900	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv1007641	chr4:120884220-121555889	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv537234	chr4:120884220-121555889	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 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	chr4:121011000-121021400	Weak transcription	Left Ventricle	heart
2	chr4:121016600-121017400	Weak transcription	Psoas Muscle	Psoas
3	chr4:121017000-121019000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:121017200-121018000	Enhancers	NHLF	lung

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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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