Variant report

Variant	rs228112
Chromosome Location	chr14:81324352-81324353
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10136404	0.85[AMR][1000 genomes]
rs1016507	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1025253	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12432357	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12434564	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12888082	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1458993	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs172920	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17542615	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1797670	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2044737	0.83[AMR][1000 genomes]
rs2044738	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2217174	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2217176	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs228110	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs228111	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs228118	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs228120	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs228121	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs228125	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2371457	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2556601	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2556605	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35540104	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4903948	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6574613	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7141130	0.83[EUR][1000 genomes]
rs71416852	0.81[EUR][1000 genomes]
rs7143407	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7148618	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7153979	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7154132	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7154373	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs728444	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs759916	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs759917	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8003784	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8005883	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8006507	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8006864	0.83[EUR][1000 genomes]
rs8021137	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8022411	0.87[AMR][1000 genomes];0.81[EUR][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:17 , 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	chr14:81292200-81328200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:81316600-81338800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr14:81317000-81326000	Weak transcription	Dnd41	blood
6	chr14:81317800-81328400	Weak transcription	HSMM	muscle
7	chr14:81317800-81333400	Weak transcription	Psoas Muscle	Psoas
8	chr14:81317800-81334400	Weak transcription	A549	lung
9	chr14:81318000-81332800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr14:81320000-81331800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr14:81320600-81326000	Weak transcription	NHDF-Ad	bronchial
12	chr14:81321600-81382200	Weak transcription	Left Ventricle	heart
13	chr14:81322400-81326000	Weak transcription	Fetal Thymus	thymus
14	chr14:81322600-81326000	Weak transcription	NHEK	skin
15	chr14:81323600-81330000	Weak transcription	Hela-S3	cervix
16	chr14:81323800-81333400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:81324000-81328400	Weak transcription	Thymus	Thymus

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