Variant report

Variant	rs228118
Chromosome Location	chr14:81329981-81329982
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10136404	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1016507	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1025253	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11623023	0.88[EUR][1000 genomes]
rs11623416	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11627019	0.82[ASN][1000 genomes]
rs11627929	0.84[ASN][1000 genomes]
rs12431821	0.88[EUR][1000 genomes]
rs12432357	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12434564	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12886388	0.88[EUR][1000 genomes]
rs12888082	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12892825	0.84[EUR][1000 genomes]
rs12895801	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1458993	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17111270	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs172920	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17542615	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1797670	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2044737	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2044738	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2114703	0.83[EUR][1000 genomes]
rs2162548	0.83[EUR][1000 genomes]
rs2217174	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2217176	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs228110	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs228111	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs228112	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs228120	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs228121	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs228125	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2371416	0.82[EUR][1000 genomes]
rs2371457	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2371462	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2556601	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2556605	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2888046	0.83[EUR][1000 genomes]
rs35540104	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3742721	0.83[EUR][1000 genomes]
rs3742722	0.84[EUR][1000 genomes]
rs4899782	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	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4903954	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]
rs6574613	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]
rs71416852	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7143407	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7143744	0.83[EUR][1000 genomes]
rs7148368	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7148618	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7153979	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7154132	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7154373	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs728444	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs759916	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs759917	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8003784	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8005883	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8006507	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8006864	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8009120	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8021137	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8022411	0.85[AFR][1000 genomes];0.96[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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81291600-81331000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr14:81291800-81344200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:81316600-81338800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr14:81317800-81333400	Weak transcription	Psoas Muscle	Psoas
5	chr14:81317800-81334400	Weak transcription	A549	lung
6	chr14:81318000-81332800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr14:81320000-81331800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:81321600-81382200	Weak transcription	Left Ventricle	heart
9	chr14:81323600-81330000	Weak transcription	Hela-S3	cervix
10	chr14:81323800-81333400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:81326200-81333200	Weak transcription	NHEK	skin
12	chr14:81326200-81336400	Weak transcription	NHDF-Ad	bronchial
13	chr14:81326600-81339800	Weak transcription	Fetal Thymus	thymus
14	chr14:81327000-81333800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr14:81327800-81333400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr14:81328800-81333000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:81329200-81332000	Weak transcription	Thymus	Thymus
18	chr14:81329200-81359400	Weak transcription	HSMM	muscle
19	chr14:81329400-81331400	Weak transcription	Dnd41	blood

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