Variant report

Variant	rs722561
Chromosome Location	chr14:72706871-72706872
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs12147219	0.81[CEU][hapmap];0.89[EUR][1000 genomes]
rs12147220	0.89[EUR][1000 genomes]
rs12147238	0.89[EUR][1000 genomes]
rs12147792	0.89[EUR][1000 genomes]
rs12147803	0.89[EUR][1000 genomes]
rs12881198	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12891167	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12897241	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1520327	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1589301	0.82[EUR][1000 genomes]
rs17109194	0.87[EUR][1000 genomes]
rs17109324	0.89[EUR][1000 genomes]
rs17109573	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17109589	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1879288	0.82[EUR][1000 genomes]
rs2079501	0.83[JPT][hapmap]
rs2238203	0.83[JPT][hapmap];0.82[EUR][1000 genomes]
rs2238208	0.83[JPT][hapmap];0.82[EUR][1000 genomes]
rs2238209	0.82[EUR][1000 genomes]
rs2238210	0.82[EUR][1000 genomes]
rs2238219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2238220	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2238221	0.85[CEU][hapmap];0.80[JPT][hapmap]
rs2238223	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2238224	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2238225	0.80[JPT][hapmap]
rs2238228	0.89[EUR][1000 genomes]
rs2238229	0.84[CHB][hapmap];0.89[EUR][1000 genomes]
rs2238230	0.84[CHB][hapmap];0.89[EUR][1000 genomes]
rs2238231	0.89[EUR][1000 genomes]
rs2238232	0.83[CHB][hapmap];0.89[EUR][1000 genomes]
rs2238233	0.89[EUR][1000 genomes]
rs2238234	0.89[EUR][1000 genomes]
rs2238235	0.89[EUR][1000 genomes]
rs2238236	0.89[EUR][1000 genomes]
rs2238237	0.89[EUR][1000 genomes]
rs2239253	0.82[EUR][1000 genomes]
rs2239254	0.82[EUR][1000 genomes]
rs2239256	0.83[JPT][hapmap]
rs2239260	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2239262	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2283394	0.82[EUR][1000 genomes]
rs2283395	0.82[EUR][1000 genomes]
rs2283399	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2283400	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34122902	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34373542	0.84[EUR][1000 genomes]
rs34905590	0.89[EUR][1000 genomes]
rs35133217	0.84[EUR][1000 genomes]
rs35413081	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36162266	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4899429	0.82[EUR][1000 genomes]
rs4903000	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4903005	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55954287	0.82[EUR][1000 genomes]
rs56263585	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66823874	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67838629	0.82[EUR][1000 genomes]
rs699359	0.86[ASN][1000 genomes]
rs7156265	0.83[JPT][hapmap];0.82[EUR][1000 genomes]
rs7156404	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72721816	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8013850	0.82[EUR][1000 genomes]
rs847246	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs847247	0.95[ASN][1000 genomes]
rs847248	0.87[ASN][1000 genomes]
rs847249	0.87[ASN][1000 genomes]
rs847251	0.83[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs847256	0.91[ASN][1000 genomes]
rs847257	0.84[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs847260	0.83[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs847261	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs722561	PTHLH	trans	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 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	chr14:72705200-72707000	Enhancers	Fetal Thymus	thymus
4	chr14:72706400-72707000	Enhancers	Fetal Stomach	stomach
5	chr14:72706600-72707200	Enhancers	Brain Germinal Matrix	brain
6	chr14:72706600-72710000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:72706600-72721200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:72706800-72712600	Weak transcription	Fetal Kidney	kidney

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