Variant report

Variant	rs2238275
Chromosome Location	chr14:72457365-72457366
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10150071	0.82[ASN][1000 genomes]
rs10483838	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs12884777	0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs17104975	0.93[JPT][hapmap]
rs17104979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17105025	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs17105032	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.96[ASN][1000 genomes]
rs17105061	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.96[ASN][1000 genomes]
rs1860105	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1989628	0.96[ASN][1000 genomes]
rs2190872	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2238274	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2238276	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2238278	0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs2238283	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap]
rs2238285	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap]
rs2239270	1.00[CEU][hapmap]
rs2283422	0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs23219	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs2332701	0.89[ASN][1000 genomes]
rs4902960	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.95[ASN][1000 genomes]
rs4902961	0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs4902965	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56661004	0.86[ASN][1000 genomes]
rs56731686	0.96[ASN][1000 genomes]
rs58002698	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60545259	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7143919	0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs7156200	0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs720391	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73293246	0.86[ASN][1000 genomes]
rs74060440	0.86[ASN][1000 genomes]
rs764624	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72456800-72457600	Enhancers	Fetal Muscle Leg	muscle
2	chr14:72457000-72457400	Enhancers	Right Ventricle	heart
3	chr14:72457000-72460200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr14:72457000-72461200	Weak transcription	Fetal Heart	heart
5	chr14:72457200-72457600	Enhancers	Left Ventricle	heart
6	chr14:72457200-72461000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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