Variant report

Variant	rs2410064
Chromosome Location	chr21:40275917-40275918
allele	C/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	chr21:40251284..40253105-chr21:40275705..40277634,2	MCF-7	breast:
4	chr21:40184185..40186181-chr21:40274030..40276834,2	MCF-7	breast:
5	chr21:40274512..40276414-chr21:40289458..40290998,2	MCF-7	breast:
6	chr21:40173449..40180758-chr21:40275825..40282486,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10854390	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11909298	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12481753	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12482288	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12483491	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13048952	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13050477	0.96[CEU][hapmap];0.86[CHB][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13051097	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13339960	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2000639	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2094873	0.96[CEU][hapmap];0.86[CHB][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2836718	0.96[CEU][hapmap];0.86[CHB][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2836719	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2836735	0.96[CEU][hapmap];0.86[CHB][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2836737	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2836740	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34578621	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4143382	0.84[EUR][1000 genomes]
rs4817966	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7275316	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7275685	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7276441	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7277330	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7278979	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7279223	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8126904	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8131220	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9680142	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9680143	0.96[CEU][hapmap];0.86[CHB][hapmap];0.84[EUR][1000 genomes];0.80[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:28 , 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	chr21:40274400-40276600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr21:40274800-40276400	Enhancers	Lung	lung
6	chr21:40274800-40276600	Enhancers	Aorta	Aorta
7	chr21:40274800-40276600	Enhancers	Fetal Muscle Leg	muscle
8	chr21:40274800-40276600	Enhancers	Placenta	Placenta
9	chr21:40274800-40276600	Enhancers	Fetal Thymus	thymus
10	chr21:40274800-40276600	Enhancers	Psoas Muscle	Psoas
11	chr21:40274800-40277000	Enhancers	Left Ventricle	heart
12	chr21:40275200-40276400	Enhancers	Right Atrium	heart
13	chr21:40275200-40276600	Enhancers	Fetal Heart	heart
14	chr21:40275400-40276000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr21:40275400-40276200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr21:40275400-40276200	Flanking Active TSS	NHEK	skin
17	chr21:40275400-40276600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr21:40275600-40276000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr21:40275600-40276000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr21:40275600-40276000	Weak transcription	Esophagus	oesophagus
21	chr21:40275600-40276000	Enhancers	Stomach Smooth Muscle	stomach
22	chr21:40275800-40276000	Enhancers	Rectal Smooth Muscle	rectum
23	chr21:40275800-40276000	Enhancers	Stomach Mucosa	stomach
24	chr21:40275800-40276000	Flanking Active TSS	HepG2	liver
25	chr21:40275800-40276200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr21:40275800-40276400	Enhancers	Fetal Muscle Trunk	muscle
27	chr21:40275800-40276800	Enhancers	HMEC	breast
28	chr21:40275800-40277800	Weak transcription	Hela-S3	cervix

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