Variant report

Variant	rs991596
Chromosome Location	chr13:94518362-94518363
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 140 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs10047752	0.80[EUR][1000 genomes]
rs10775112	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs11617930	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs12429919	0.80[EUR][1000 genomes]
rs12876318	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs1330468	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1411504	0.82[EUR][1000 genomes]
rs1411505	0.82[EUR][1000 genomes]
rs1411507	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs1411509	0.84[EUR][1000 genomes]
rs1411510	0.92[CEU][hapmap]
rs1411513	0.92[CEU][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1854730	0.85[EUR][1000 genomes]
rs1888230	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1888231	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs1888232	0.95[EUR][1000 genomes]
rs1983987	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1983988	0.90[EUR][1000 genomes]
rs2008059	0.85[EUR][1000 genomes]
rs2150124	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs2183426	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs2183430	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs2210110	0.89[EUR][1000 genomes]
rs2389048	0.82[EUR][1000 genomes]
rs2892666	0.85[EUR][1000 genomes]
rs2892667	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs3759422	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs3759423	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs3864992	0.85[EUR][1000 genomes]
rs3864993	0.85[EUR][1000 genomes]
rs3864994	0.85[EUR][1000 genomes]
rs4274304	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs4274305	0.85[EUR][1000 genomes]
rs4300503	0.85[EUR][1000 genomes]
rs4326909	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4486746	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs4548731	0.85[EUR][1000 genomes]
rs4556669	0.85[EUR][1000 genomes]
rs6416428	0.85[EUR][1000 genomes]
rs71207435	0.82[EUR][1000 genomes]
rs71207436	0.85[EUR][1000 genomes]
rs7317037	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs7317144	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs7320107	0.91[EUR][1000 genomes]
rs7320571	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs7326965	0.95[EUR][1000 genomes]
rs7329113	0.84[EUR][1000 genomes]
rs7329264	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7330202	0.92[CEU][hapmap]
rs7331637	0.80[EUR][1000 genomes]
rs7331870	0.80[EUR][1000 genomes]
rs7983205	0.93[EUR][1000 genomes]
rs7986675	0.88[EUR][1000 genomes]
rs7988628	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs7989528	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7991274	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs7998863	0.83[EUR][1000 genomes]
rs7999251	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs8001981	0.95[EUR][1000 genomes]
rs885192	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs928189	0.92[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9284274	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs9301910	0.80[EUR][1000 genomes]
rs9301911	0.80[EUR][1000 genomes]
rs9301912	0.88[EUR][1000 genomes]
rs9301913	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs9301914	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9301916	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9516286	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs9516287	0.85[EUR][1000 genomes]
rs9516289	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs9516295	0.82[EUR][1000 genomes]
rs9516296	0.82[EUR][1000 genomes]
rs9516297	0.82[EUR][1000 genomes]
rs9516301	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9516302	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9516306	0.89[EUR][1000 genomes]
rs9516308	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9524212	0.84[EUR][1000 genomes]
rs9524214	0.85[EUR][1000 genomes]
rs9524215	0.84[EUR][1000 genomes]
rs9524216	0.85[EUR][1000 genomes]
rs9524217	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs9524218	0.85[EUR][1000 genomes]
rs9524222	0.85[EUR][1000 genomes]
rs9524223	0.85[EUR][1000 genomes]
rs9524224	0.85[EUR][1000 genomes]
rs9524225	0.85[EUR][1000 genomes]
rs9524226	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs9524227	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs9524228	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs9524229	0.82[EUR][1000 genomes]
rs9524230	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs9524231	0.85[EUR][1000 genomes]
rs9524232	0.80[EUR][1000 genomes]
rs9524233	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs9524235	0.80[EUR][1000 genomes]
rs9524236	0.85[EUR][1000 genomes]
rs9524237	0.80[EUR][1000 genomes]
rs9524243	0.86[EUR][1000 genomes]
rs9524247	0.88[EUR][1000 genomes]
rs9524249	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs9524252	0.94[EUR][1000 genomes]
rs9524253	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9524254	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs9524257	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9524262	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9524263	0.92[CEU][hapmap];0.81[CHB][hapmap];0.90[EUR][1000 genomes]
rs9524264	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9524265	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9524268	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9524272	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9524274	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9556324	0.84[EUR][1000 genomes]
rs9556325	0.84[EUR][1000 genomes]
rs9556326	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs9556328	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs9556334	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs9561444	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs9561445	0.84[EUR][1000 genomes]
rs9561447	0.85[EUR][1000 genomes]
rs9561448	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs9561449	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs9561453	0.83[EUR][1000 genomes]
rs9561458	0.91[CEU][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9589836	0.85[EUR][1000 genomes]
rs9589837	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs9589841	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs9589842	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs9589848	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs991431	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs991597	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs996920	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs996921	0.92[CEU][hapmap];0.82[CHB][hapmap];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948714	chr13:94100104-94699435	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv933807	chr13:94187158-94845505	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1045230	chr13:94277683-94764671	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv832684	chr13:94379507-94550853	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv948455	chr13:94451368-94988900	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv430598	chr13:94490519-94546599	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs991596	GPC6	cis	Artery Aorta	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94515000-94518400	Weak transcription	HSMMtube	muscle
2	chr13:94515600-94519400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr13:94515600-94519600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr13:94515800-94521200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr13:94517200-94519800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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