Variant report

Variant	rs2238243
Chromosome Location	chr14:72666117-72666118
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1012220	0.81[CEU][hapmap]
rs10131012	0.91[JPT][hapmap]
rs10132818	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10134489	0.91[JPT][hapmap]
rs10134542	0.91[JPT][hapmap]
rs10136881	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10149098	0.91[JPT][hapmap]
rs10150159	0.90[JPT][hapmap]
rs10150242	0.90[JPT][hapmap]
rs11848300	0.85[CEU][hapmap];0.85[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12148024	0.81[JPT][hapmap]
rs12432346	0.91[JPT][hapmap]
rs12883593	0.84[CEU][hapmap]
rs12894979	0.81[JPT][hapmap]
rs1402056	0.81[JPT][hapmap]
rs1402058	0.85[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1402061	0.85[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1520326	0.91[JPT][hapmap]
rs1520330	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1544487	0.91[JPT][hapmap]
rs1558073	0.91[JPT][hapmap]
rs17769097	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1949560	0.89[CEU][hapmap];0.83[MEX][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1949561	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2079502	0.91[JPT][hapmap]
rs2108466	0.91[JPT][hapmap]
rs2108467	0.81[EUR][1000 genomes]
rs2190627	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2238212	0.91[JPT][hapmap]
rs2238213	0.91[JPT][hapmap]
rs2238215	0.81[JPT][hapmap]
rs2238216	0.81[JPT][hapmap]
rs2238217	0.91[JPT][hapmap]
rs2238218	0.91[JPT][hapmap]
rs2238227	0.83[AMR][1000 genomes]
rs2238244	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.81[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2239257	0.91[JPT][hapmap]
rs2239258	0.91[JPT][hapmap]
rs2239261	0.91[JPT][hapmap]
rs2283406	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2283407	0.81[ASN][1000 genomes]
rs2283408	0.85[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2283409	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2332806	0.85[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2332807	0.91[JPT][hapmap]
rs2332808	0.91[JPT][hapmap]
rs28678452	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3784049	0.91[JPT][hapmap]
rs4903003	0.81[JPT][hapmap]
rs4903004	0.91[JPT][hapmap]
rs6574055	0.91[JPT][hapmap]
rs6574057	0.91[JPT][hapmap]
rs7141299	0.84[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7157673	0.85[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs7350728	0.91[JPT][hapmap]
rs740337	0.91[JPT][hapmap]
rs763507	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8007566	0.80[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs8007922	0.91[JPT][hapmap]
rs847241	0.91[JPT][hapmap]
rs847345	0.91[JPT][hapmap]
rs977340	0.89[CEU][hapmap];0.83[MEX][hapmap];0.83[AMR][1000 genomes];0.82[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:4 , 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	chr14:72663000-72666800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr14:72664200-72667200	Weak transcription	Adipose Nuclei	Adipose

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