Variant report

Variant	rs1520327
Chromosome Location	chr14:72711026-72711027
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs12147219	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12147220	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12147238	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12147792	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12147803	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12881198	0.85[ASN][1000 genomes]
rs12883470	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12891167	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12897241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1520329	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1589301	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17109194	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17109324	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17109573	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17109589	0.85[ASN][1000 genomes]
rs17110829	0.93[AMR][1000 genomes]
rs1879288	0.88[EUR][1000 genomes]
rs1981604	0.81[AMR][1000 genomes]
rs2079501	0.81[AMR][1000 genomes]
rs2238200	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2238203	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2238208	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2238209	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2238210	0.88[EUR][1000 genomes]
rs2238219	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2238220	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2238223	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2238224	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2238228	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2238229	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2238230	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2238231	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2238232	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2238233	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2238234	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2238235	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2238236	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2238237	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2238239	0.93[AFR][1000 genomes]
rs2238240	0.82[EUR][1000 genomes]
rs2239252	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2239253	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2239254	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2239260	0.85[ASN][1000 genomes]
rs2239262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2283394	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2283395	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2283399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2283400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34122902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34373542	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs34755616	0.93[AMR][1000 genomes]
rs34905590	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35133217	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs35291137	0.93[AMR][1000 genomes]
rs35367207	0.93[AFR][1000 genomes]
rs35413081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35953744	0.82[AFR][1000 genomes]
rs36162266	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4324071	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4899429	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4899431	0.93[AMR][1000 genomes]
rs4899432	0.93[AMR][1000 genomes]
rs4903000	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4903005	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4903011	0.93[AMR][1000 genomes]
rs55954287	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56263585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66507723	0.93[AMR][1000 genomes]
rs66823874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67838629	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs699359	0.92[ASN][1000 genomes]
rs7156265	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7156404	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs722561	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72721816	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8013850	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8015237	0.93[AMR][1000 genomes]
rs847246	0.87[ASN][1000 genomes]
rs847247	0.83[ASN][1000 genomes]
rs847248	0.91[ASN][1000 genomes]
rs847249	0.90[ASN][1000 genomes]
rs847251	0.95[ASN][1000 genomes]
rs847256	0.86[ASN][1000 genomes]
rs847257	0.94[ASN][1000 genomes]
rs847260	0.91[ASN][1000 genomes]
rs847261	0.85[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
rs1520327	PTHLH	trans	lymphoblastoid	RTeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72699800-72719600	Weak transcription	Right Ventricle	heart
2	chr14:72706600-72721200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:72706800-72712600	Weak transcription	Fetal Kidney	kidney
4	chr14:72709000-72711200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:72710000-72711200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr14:72710000-72711400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr14:72710000-72711400	Enhancers	Fetal Heart	heart
8	chr14:72710200-72711400	Enhancers	Fetal Stomach	stomach
9	chr14:72710400-72712800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:72710600-72711400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr14:72710600-72711400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:72711000-72711600	Enhancers	Left Ventricle	heart
13	chr14:72711000-72712200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:72711000-72712800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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