Variant report

Variant	rs1544487
Chromosome Location	chr14:72709149-72709150
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10131012	1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs10134489	1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10134542	1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs10142099	0.90[YRI][hapmap]
rs10143449	0.94[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs10149098	0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.84[MKK][hapmap];0.81[TSI][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10150159	1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs10150242	1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1076317	0.88[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs11848300	0.86[JPT][hapmap]
rs12148024	0.86[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs12432346	0.85[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.86[TSI][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12432632	0.95[ASN][1000 genomes]
rs12894979	0.91[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs1402056	0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.94[ASN][1000 genomes]
rs1402058	0.86[JPT][hapmap]
rs1402061	0.86[JPT][hapmap]
rs1520326	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1558071	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1558073	1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1568404	0.81[JPT][hapmap]
rs17180251	0.94[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs17180265	0.91[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2079502	1.00[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2108466	1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2238212	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2238213	1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2238215	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2238216	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2238217	1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2238218	1.00[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2238243	0.91[JPT][hapmap]
rs2238244	0.91[JPT][hapmap]
rs2239257	0.93[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.83[MEX][hapmap];0.87[MKK][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2239258	1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[ASN][1000 genomes]
rs2239261	1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2283408	0.86[JPT][hapmap]
rs2332806	0.86[JPT][hapmap]
rs2332807	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2332808	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3784049	1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4903003	0.88[CHD][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];0.84[ASN][1000 genomes]
rs4903004	0.84[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6574055	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6574056	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6574057	1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs699369	0.84[ASN][1000 genomes]
rs71448391	0.84[ASN][1000 genomes]
rs7157673	0.86[JPT][hapmap]
rs7350728	0.98[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.87[MEX][hapmap];0.82[MKK][hapmap];0.90[YRI][hapmap];0.86[ASN][1000 genomes]
rs740337	0.95[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs758004	0.84[ASN][1000 genomes]
rs763507	0.91[JPT][hapmap]
rs8007566	0.82[JPT][hapmap]
rs8007922	0.81[ASW][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs847241	0.85[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs847304	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs847345	1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[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	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72699800-72719600	Weak transcription	Right Ventricle	heart
2	chr14:72700600-72709800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr14:72706600-72710000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:72706600-72721200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:72706800-72712600	Weak transcription	Fetal Kidney	kidney
6	chr14:72707000-72710200	Weak transcription	Fetal Stomach	stomach
7	chr14:72709000-72711200	Weak transcription	H9 Cell Line	embryonic stem cell

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