Variant report

Variant	rs4816606
Chromosome Location	chr21:40275231-40275232
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40274625..40276194-chr21:40279774..40282336,2	K562	blood:
2	chr21:40176606..40179033-chr21:40274640..40277312,2	K562	blood:
3	chr21:40184185..40186181-chr21:40274030..40276834,2	MCF-7	breast:
4	chr21:40274512..40276414-chr21:40289458..40290998,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs13050863	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1475592	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1785432	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2150409	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2210265	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2836723	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2836725	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2836726	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2836742	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs455152	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs463442	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs464093	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs467788	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs468042	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs468637	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs469031	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs469043	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs469368	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4816607	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6517485	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8133009	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs992242	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40270600-40278600	Weak transcription	Liver	Liver
2	chr21:40273600-40277800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr21:40273800-40284800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr21:40274400-40275400	Enhancers	HMEC	breast
5	chr21:40274400-40275400	Enhancers	NHEK	skin
6	chr21:40274400-40276600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr21:40274800-40275600	Enhancers	Esophagus	oesophagus
8	chr21:40274800-40276400	Enhancers	Lung	lung
9	chr21:40274800-40276600	Enhancers	Aorta	Aorta
10	chr21:40274800-40276600	Enhancers	Fetal Muscle Leg	muscle
11	chr21:40274800-40276600	Enhancers	Placenta	Placenta
12	chr21:40274800-40276600	Enhancers	Fetal Thymus	thymus
13	chr21:40274800-40276600	Enhancers	Psoas Muscle	Psoas
14	chr21:40274800-40277000	Enhancers	Left Ventricle	heart
15	chr21:40275200-40275400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr21:40275200-40275400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr21:40275200-40275400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr21:40275200-40275600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr21:40275200-40275600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr21:40275200-40275800	Enhancers	Hela-S3	cervix
21	chr21:40275200-40276400	Enhancers	Right Atrium	heart
22	chr21:40275200-40276600	Enhancers	Fetal Heart	heart

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