Variant report

Variant	rs1458993
Chromosome Location	chr14:81310876-81310877
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10136404	0.84[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1016507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1025253	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1035144	0.81[JPT][hapmap]
rs11623023	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11623416	0.82[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs12431821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12432357	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12434564	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12878945	0.83[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs12880014	1.00[CHB][hapmap]
rs12880075	0.84[ASN][1000 genomes]
rs12886388	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12888082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12891585	1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes]
rs12892825	0.81[CEU][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs12895801	0.82[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs1597320	0.88[CHB][hapmap]
rs17111270	0.81[CEU][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes]
rs172920	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17542615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17542712	0.83[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs17613911	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs17614081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs1797670	0.85[CHB][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2044737	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2044738	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2114703	0.82[CEU][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs2162548	0.81[EUR][1000 genomes]
rs2215981	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs2217174	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2217176	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2246617	0.87[CHB][hapmap]
rs228110	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs228111	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs228112	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs228118	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs228120	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs228121	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs228125	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2371413	0.87[CHB][hapmap]
rs2371416	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2371457	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2371462	0.81[CEU][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2556601	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2556605	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2590480	0.88[CHB][hapmap]
rs2888046	0.80[CEU][hapmap];0.89[JPT][hapmap];0.81[EUR][1000 genomes]
rs35540104	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3742721	0.81[CEU][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs3742722	0.81[CEU][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs4411444	0.81[JPT][hapmap]
rs4523859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs4899782	0.82[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4899783	0.86[EUR][1000 genomes]
rs4903948	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4903954	0.88[JPT][hapmap];0.82[EUR][1000 genomes]
rs61979448	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61979449	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61979451	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61979452	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6574605	0.88[CHB][hapmap]
rs6574613	0.88[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67065081	0.86[EUR][1000 genomes]
rs7141130	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7141434	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs71416852	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7142753	0.87[ASN][1000 genomes]
rs7143407	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7143744	0.81[EUR][1000 genomes]
rs7148368	0.96[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7148618	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7150858	0.89[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap]
rs7153979	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7154132	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7154373	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs728444	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs759916	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs759917	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8003784	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8005809	0.87[CHB][hapmap]
rs8005883	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8006507	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8006864	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8009120	0.82[CEU][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8016601	1.00[CEU][hapmap]
rs8021137	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8022411	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81285000-81311200	Weak transcription	Ovary	ovary
2	chr14:81285200-81315600	Weak transcription	HSMM	muscle
3	chr14:81290600-81311200	Weak transcription	Fetal Stomach	stomach
4	chr14:81291600-81331000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr14:81291800-81344200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:81292200-81328200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:81304800-81314400	Weak transcription	Thymus	Thymus
8	chr14:81305200-81321600	Weak transcription	Fetal Thymus	thymus
9	chr14:81306600-81311200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:81310000-81315600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:81310600-81315600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:81310800-81311000	Weak transcription	A549	lung
13	chr14:81310800-81311000	Genic enhancers	Dnd41	blood
14	chr14:81310800-81311400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:81310800-81311800	Enhancers	Skeletal Muscle Female	skeletal muscle

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