Variant report

Variant	rs228120
Chromosome Location	chr14:81333763-81333764
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	0.83[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1016507	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1025253	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1035144	0.81[JPT][hapmap]
rs11623023	0.88[EUR][1000 genomes]
rs11623416	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11627019	0.82[ASN][1000 genomes]
rs11627929	0.84[ASN][1000 genomes]
rs12431821	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.88[EUR][1000 genomes]
rs12432357	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12434564	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12878945	0.95[JPT][hapmap]
rs12880014	0.87[CHB][hapmap];1.00[YRI][hapmap]
rs12886388	0.88[EUR][1000 genomes]
rs12888082	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12891585	0.93[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs12892825	0.82[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes]
rs12895801	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1458993	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]
rs1597320	1.00[YRI][hapmap]
rs17111270	0.82[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs172920	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17542615	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17542712	0.95[JPT][hapmap]
rs17613911	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs17614081	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs1797670	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2044737	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2044738	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2114703	0.81[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes]
rs2162548	0.83[EUR][1000 genomes]
rs2215981	0.84[CEU][hapmap];0.81[JPT][hapmap]
rs2217174	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2217176	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2246617	0.82[CHB][hapmap];1.00[YRI][hapmap]
rs228110	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs228111	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs228112	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs228118	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs228121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs228125	1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2371413	1.00[YRI][hapmap]
rs2371416	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs2371457	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2371462	0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2556601	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2556605	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2590480	1.00[YRI][hapmap]
rs2888046	0.89[JPT][hapmap];0.83[EUR][1000 genomes]
rs35540104	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3742721	0.82[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes]
rs3742722	0.82[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes]
rs4411444	0.81[JPT][hapmap]
rs4523859	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4899782	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4899783	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4903948	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4903954	0.88[JPT][hapmap];0.84[EUR][1000 genomes]
rs61979448	0.88[EUR][1000 genomes]
rs61979449	0.88[EUR][1000 genomes]
rs61979451	0.88[EUR][1000 genomes]
rs61979452	0.89[EUR][1000 genomes]
rs6574605	1.00[YRI][hapmap]
rs6574613	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67065081	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7141130	0.92[EUR][1000 genomes]
rs7141434	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs71416852	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7143407	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7143744	0.83[EUR][1000 genomes]
rs7148368	0.96[CEU][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs7148618	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7150858	0.88[CEU][hapmap];0.90[JPT][hapmap]
rs7153979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7154132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7154373	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs728444	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs759916	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs759917	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8003784	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8005809	1.00[YRI][hapmap]
rs8005883	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8006507	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8006864	1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8009120	0.81[CEU][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8016601	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs8021137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8022411	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81291800-81344200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:81316600-81338800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr14:81317800-81334400	Weak transcription	A549	lung
4	chr14:81321600-81382200	Weak transcription	Left Ventricle	heart
5	chr14:81326200-81336400	Weak transcription	NHDF-Ad	bronchial
6	chr14:81326600-81339800	Weak transcription	Fetal Thymus	thymus
7	chr14:81327000-81333800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr14:81329200-81359400	Weak transcription	HSMM	muscle
9	chr14:81330400-81350600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr14:81330800-81334000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr14:81331200-81344800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:81332600-81344400	Weak transcription	Ovary	ovary
13	chr14:81332600-81345800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:81332800-81337800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:81332800-81344000	Weak transcription	Thymus	Thymus
16	chr14:81333000-81334200	Enhancers	HMEC	breast
17	chr14:81333000-81344600	Weak transcription	Aorta	Aorta
18	chr14:81333200-81334000	Enhancers	NHEK	skin
19	chr14:81333400-81334000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:81333600-81334200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:81333600-81334200	Weak transcription	Dnd41	blood

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