Variant report

Variant	rs2238240
Chromosome Location	chr14:72668959-72668960
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs12147219	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs12147220	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs12147238	0.86[EUR][1000 genomes]
rs12147792	0.86[EUR][1000 genomes]
rs12147803	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs12891167	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs12897241	0.90[CEU][hapmap]
rs1520327	0.82[EUR][1000 genomes]
rs1520329	0.90[CEU][hapmap]
rs17109194	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs17109324	0.86[EUR][1000 genomes]
rs17109573	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs1879288	0.90[CEU][hapmap]
rs2238200	0.81[CEU][hapmap]
rs2238203	0.90[CEU][hapmap]
rs2238208	0.90[CEU][hapmap]
rs2238209	0.80[CEU][hapmap]
rs2238210	0.90[CEU][hapmap]
rs2238220	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs2238223	0.86[EUR][1000 genomes]
rs2238224	0.86[EUR][1000 genomes]
rs2238228	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs2238229	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs2238230	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs2238231	0.86[EUR][1000 genomes]
rs2238232	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs2238233	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs2238234	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs2238235	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs2238236	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs2238237	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs2238239	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2239253	0.90[CEU][hapmap]
rs2239254	0.90[CEU][hapmap]
rs2239256	0.90[CEU][hapmap]
rs2239262	0.90[CEU][hapmap]
rs2283394	0.90[CEU][hapmap]
rs2283395	0.90[CEU][hapmap]
rs2283399	0.90[CEU][hapmap]
rs34122902	0.82[EUR][1000 genomes]
rs34905590	0.86[EUR][1000 genomes]
rs35367207	0.94[EUR][1000 genomes]
rs35953744	0.90[EUR][1000 genomes]
rs4899429	0.90[CEU][hapmap]
rs4903000	0.86[EUR][1000 genomes]
rs4903005	0.90[CEU][hapmap]
rs66823874	0.82[EUR][1000 genomes]
rs7156265	0.90[CEU][hapmap]
rs72721816	0.86[EUR][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	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
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1041492	chr14:72634606-72768970	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	1 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	chr14:72653600-72683000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:72654400-72670200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:72667600-72670000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr14:72668000-72669000	Weak transcription	Adipose Nuclei	Adipose
5	chr14:72668400-72669000	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr14:72668400-72669600	Enhancers	Fetal Muscle Leg	muscle

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