Variant report

Variant	rs12895801
Chromosome Location	chr14:81412117-81412118
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10136404	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10145099	0.81[EUR][1000 genomes]
rs1016507	0.82[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1025253	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1035144	0.82[JPT][hapmap]
rs11623416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627019	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11627929	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12050416	0.81[YRI][hapmap]
rs12431821	0.80[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]
rs12432357	0.85[EUR][1000 genomes]
rs12434564	0.86[EUR][1000 genomes]
rs12878945	0.95[JPT][hapmap]
rs12880014	0.80[CHB][hapmap]
rs12888082	0.81[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs12891585	0.85[CHB][hapmap];0.93[JPT][hapmap]
rs12892825	0.92[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1458993	0.82[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs17111270	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs172920	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17542615	0.82[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs17542712	0.95[JPT][hapmap]
rs17613911	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs17614081	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs179262	0.85[EUR][1000 genomes]
rs179263	0.84[EUR][1000 genomes]
rs1797670	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2044738	0.85[EUR][1000 genomes]
rs2114703	0.93[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2162548	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2215981	0.89[CEU][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs2217174	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2217176	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs228110	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs228111	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs228118	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs228120	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs228121	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs228125	0.82[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2284726	0.81[EUR][1000 genomes]
rs2371416	1.00[JPT][hapmap]
rs2371457	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2371462	0.84[CEU][hapmap];0.84[JPT][hapmap];0.95[EUR][1000 genomes]
rs2556601	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2556605	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2888046	0.92[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35540104	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3742721	0.92[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3742722	0.92[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3783948	0.82[EUR][1000 genomes]
rs4411444	0.82[JPT][hapmap]
rs4523859	0.81[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]
rs4899782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899783	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903948	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4903954	0.90[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6574613	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67065081	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7141130	0.81[EUR][1000 genomes]
rs7141434	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs71416852	0.81[EUR][1000 genomes]
rs7143407	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7143744	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7148368	0.90[JPT][hapmap]
rs7148618	0.81[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes]
rs7150858	0.90[JPT][hapmap]
rs7153979	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7154132	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7154373	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs728444	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs759916	0.94[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs759917	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8003784	0.86[EUR][1000 genomes]
rs8005883	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8006507	0.86[EUR][1000 genomes]
rs8006864	0.81[EUR][1000 genomes]
rs8009120	0.85[CEU][hapmap];0.91[JPT][hapmap];0.95[EUR][1000 genomes]
rs8009260	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8016507	0.81[YRI][hapmap]
rs8021137	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8022411	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
3	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
4	nsv456346	chr14:81399692-81448382	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
5	nsv565291	chr14:81399692-81448382	Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr14:81408800-81412400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr14:81408800-81414200	Weak transcription	Liver	Liver
3	chr14:81408800-81421000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:81409000-81414000	Weak transcription	Thymus	Thymus
5	chr14:81409200-81415400	Weak transcription	Placenta	Placenta
6	chr14:81409600-81412600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr14:81410000-81412200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:81410200-81420000	Weak transcription	Dnd41	blood
9	chr14:81411400-81413600	Enhancers	HMEC	breast
10	chr14:81411800-81412600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:81411800-81413200	Enhancers	NHEK	skin
12	chr14:81411800-81416800	Strong transcription	Fetal Thymus	thymus
13	chr14:81412000-81412400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:81412000-81412600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:81412000-81412600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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